Variant report

Variant	nsv872217
Chromosome Location	chr1:144990981-145195645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6260)
CpG islands
(count:4528)
Chromatin interactive
region (count:354)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6260 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145027372-145031947	K562	blood:	n/a	n/a
2	ARID3A	chr1:145039806-145040082	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:145012025-145018939	K562	blood:	n/a	chr1:145012568-145012584 chr1:145012567-145012583
4	ARID3A	chr1:145023275-145025964	K562	blood:	n/a	n/a
5	ARID3A	chr1:145061354-145062417	K562	blood:	n/a	n/a
6	ARID3A	chr1:145007845-145011203	K562	blood:	n/a	n/a
7	ARID3A	chr1:145083440-145084471	K562	blood:	n/a	n/a
8	ARID3A	chr1:145005457-145007401	K562	blood:	n/a	n/a
9	ARID3A	chr1:145089768-145090509	K562	blood:	n/a	n/a
10	ARID3A	chr1:144997084-144999662	K562	blood:	n/a	n/a
11	ARID3A	chr1:145091964-145092746	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:145040051-145040226	K562	blood:	n/a	n/a
13	ARID3A	chr1:145096149-145096769	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:145040639-145043538	K562	blood:	n/a	n/a
15	ARID3A	chr1:145058588-145061058	K562	blood:	n/a	n/a
16	ARID3A	chr1:145014466-145014972	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:144994237-144996744	K562	blood:	n/a	n/a
18	ARID3A	chr1:144989106-144991213	K562	blood:	n/a	n/a
19	ARID3A	chr1:145000157-145004850	K562	blood:	n/a	chr1:145001553-145001569 chr1:145004748-145004764
20	ARID3A	chr1:145098092-145098776	HepG2	liver:	n/a	n/a
21	ARID3A	chr1:145054062-145056297	K562	blood:	n/a	chr1:145054435-145054451 chr1:145054273-145054289 chr1:145054272-145054288 chr1:145054436-145054452
22	ARID3A	chr1:144991522-144993662	K562	blood:	n/a	n/a
23	ATF1	chr1:145069602-145070170	K562	blood:	n/a	n/a
24	ATF1	chr1:145077527-145078634	K562	blood:	n/a	n/a
25	ATF1	chr1:145070839-145072121	K562	blood:	n/a	n/a
26	ATF1	chr1:145109420-145111084	K562	blood:	n/a	n/a
27	ATF1	chr1:145018078-145018857	K562	blood:	n/a	n/a
28	ATF1	chr1:145078844-145078995	K562	blood:	n/a	n/a
29	ATF1	chr1:145074748-145075398	K562	blood:	n/a	n/a
30	ATF1	chr1:145058458-145062743	K562	blood:	n/a	n/a
31	ATF1	chr1:145096190-145096629	K562	blood:	n/a	n/a
32	ATF1	chr1:145108235-145108438	K562	blood:	n/a	n/a
33	ATF1	chr1:144998715-144999351	K562	blood:	n/a	n/a
34	ATF1	chr1:145054709-145055914	K562	blood:	n/a	n/a
35	ATF1	chr1:145008736-145009963	K562	blood:	n/a	n/a
36	ATF1	chr1:145042745-145043636	K562	blood:	n/a	n/a
37	ATF1	chr1:145090189-145090575	K562	blood:	n/a	n/a
38	ATF1	chr1:144991677-144992162	K562	blood:	n/a	n/a
39	ATF1	chr1:145112421-145113298	K562	blood:	n/a	n/a
40	ATF1	chr1:145111322-145111864	K562	blood:	n/a	n/a
41	ATF1	chr1:144994316-144996366	K562	blood:	n/a	n/a
42	ATF1	chr1:145014382-145016089	K562	blood:	n/a	n/a
43	ATF1	chr1:145027502-145029034	K562	blood:	n/a	n/a
44	ATF1	chr1:145080812-145081067	K562	blood:	n/a	n/a
45	ATF1	chr1:145073353-145074236	K562	blood:	n/a	n/a
46	ATF1	chr1:145029752-145031659	K562	blood:	n/a	n/a
47	ATF1	chr1:145086819-145087312	K562	blood:	n/a	n/a
48	ATF1	chr1:145083579-145084451	K562	blood:	n/a	n/a
49	ATF1	chr1:145068286-145068723	K562	blood:	n/a	n/a
50	ATF1	chr1:145113871-145114613	K562	blood:	n/a	n/a

(count:4528 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145017064-145017114	SAEC	small airway:	n/a
2	chr1:145092576-145092626	AG04450	lung:	fetal
3	chr1:145139063-145139113	HEK293	kidney:	embryo
4	chr1:145139908-145139958	HepG2	liver:	n/a
5	chr1:145075349-145075399	ECC-1	luminal epithelium:	n/a
6	chr1:145039741-145039791	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:145096321-145096371	T-47D	breast:	n/a
8	chr1:144994826-144994876	SK-N-SH_RA	brain:	n/a
9	chr1:144995682-144995732	ECC-1	luminal epithelium:	n/a
10	chr1:145075538-145075588	IMR90	lung:	fetal
11	chr1:145139473-145139523	K562	blood:	n/a
12	chr1:145073743-145073793	HAEpiC	amniotic membrane:	n/a
13	chr1:145036025-145036075	ovcar-3	ovarian:	n/a
14	chr1:145096403-145096453	Jurkat	blood:	n/a
15	chr1:145017064-145017114	SAEC	small airway:	n/a
16	chr1:145092576-145092626	AG04450	lung:	fetal
17	chr1:145139063-145139113	HEK293	kidney:	embryo
18	chr1:145139908-145139958	HepG2	liver:	n/a
19	chr1:145075349-145075399	ECC-1	luminal epithelium:	n/a
20	chr1:145039741-145039791	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:145096321-145096371	T-47D	breast:	n/a
22	chr1:144994826-144994876	SK-N-SH_RA	brain:	n/a
23	chr1:144995682-144995732	ECC-1	luminal epithelium:	n/a
24	chr1:145075538-145075588	IMR90	lung:	fetal
25	chr1:145139473-145139523	K562	blood:	n/a
26	chr1:145073743-145073793	HAEpiC	amniotic membrane:	n/a
27	chr1:145036025-145036075	ovcar-3	ovarian:	n/a
28	chr1:145096403-145096453	Jurkat	blood:	n/a
29	chr1:144994715-144994765	T-47D	breast:	n/a
30	chr1:145104707-145104757	HCM	heart:	n/a
31	chr1:145139679-145139729	MCF10A-Er-Src	breast:	n/a
32	chr1:144994542-144994592	HL-60	blood:	n/a
33	chr1:145092485-145092535	AG10803	skin:	n/a
34	chr1:145096236-145096286	SK-N-SH	brain:	n/a
35	chr1:145096319-145096369	HNPCEpiC	eye:	n/a
36	chr1:145035112-145035162	CMK	blood:	n/a
37	chr1:145096375-145096425	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:145035112-145035162	HRE	kidney:	n/a
39	chr1:145012822-145012872	Hepatocyte	liver:	n/a
40	chr1:145112981-145113031	NH-A	brain:	n/a
41	chr1:144998869-144998919	NHBE	bronchial:	n/a
42	chr1:145095965-145096015	GM12878	blood:	n/a
43	chr1:145092330-145092380	HCT-116	colon:	n/a
44	chr1:145042811-145042861	ovcar-3	ovarian:	n/a
45	chr1:145139679-145139729	HCM	heart:	n/a
46	chr1:145092330-145092380	GM06990	blood:	n/a
47	chr1:145139063-145139113	ECC-1	luminal epithelium:	n/a
48	chr1:145035112-145035162	HUVEC	blood vessel:	n/a
49	chr1:145115872-145115922	SK-N-SH_RA	brain:	n/a
50	chr1:145075538-145075588	ECC-1	luminal epithelium:	n/a

(count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr1:145076679..145079296-chr1:145102825..145104399,2	MCF-7	breast:
2	chr1:144931832..144934351-chr1:145043528..145045220,3	K562	blood:
3	chr1:145097859..145099647-chr1:147805751..147808247,2	K562	blood:
4	chr1:145124431..145127072-chr1:145381606..145383214,2	K562	blood:
5	chr1:144931701..144934508-chr1:145029528..145032354,3	MCF-7	breast:
6	chr1:144991648..144993196-chr12:122238579..122241353,2	MCF-7	breast:
7	chr1:144917990..144918581-chr1:145061611..145062219,2	MCF-7	breast:
8	chr1:144533901..144535603-chr1:145028465..145030192,2	K562	blood:
9	chr1:144988937..144989757-chr1:145029836..145030458,2	MCF-7	breast:
10	chr1:144532343..144534218-chr1:145080801..145083620,2	K562	blood:
11	chr1:145098754..145101358-chr20:45981567..45984247,2	MCF-7	breast:
12	chr1:144997738..145000659-chr1:145007857..145011011,3	MCF-7	breast:
13	chr1:145013724..145015799-chr5:131825406..131827078,2	MCF-7	breast:
14	chr1:144987976..144988507-chr1:145060005..145060715,2	MCF-7	breast:
15	chr1:145082537..145085433-chr1:145102296..145104665,3	MCF-7	breast:
16	chr1:120480674..120483081-chr1:145098868..145100829,2	MCF-7	breast:
17	chr1:144532329..144535680-chr1:145012343..145016063,5	K562	blood:
18	chr1:144995349..144995871-chr1:145040542..145041528,2	K562	blood:
19	chr1:144988555..144990830-chr1:145058113..145060409,2	K562	blood:
20	chr1:145116552..145118106-chr1:145382522..145384612,2	MCF-7	breast:
21	chr1:144992139..144994495-chr1:145073891..145076313,2	MCF-7	breast:
22	chr1:144930691..144932405-chr1:145101538..145103976,2	MCF-7	breast:
23	chr1:144991810..144992601-chr1:145058676..145059206,2	K562	blood:
24	chr1:144533808..144536803-chr1:145107932..145113896,6	K562	blood:
25	chr1:144932003..144934560-chr1:145095329..145097401,2	MCF-7	breast:
26	chr1:145041147..145043858-chr1:145090158..145092282,3	K562	blood:
27	chr1:144932167..144933314-chr1:145058712..145059472,5	MCF-7	breast:
28	chr1:144999707..145001666-chr1:145095290..145097407,2	K562	blood:
29	chr1:144930835..144932990-chr1:145009036..145011761,2	MCF-7	breast:
30	chr1:144917481..144919146-chr1:145058283..145060040,20	MCF-7	breast:
31	chr1:145044375..145046639-chr1:145102991..145105034,2	K562	blood:
32	chr1:145002712..145004491-chr1:145095156..145096973,2	MCF-7	breast:
33	chr1:144992899..144993435-chr1:145029983..145030524,2	MCF-7	breast:
34	chr1:144993854..144995667-chr1:145381995..145384401,2	K562	blood:
35	chr1:144919025..144921038-chr1:145058900..145061668,2	K562	blood:
36	chr1:144993161..144995099-chr1:145058341..145060153,2	MCF-7	breast:
37	chr1:145069991..145072792-chr1:145078438..145080718,2	K562	blood:
38	chr1:145000529..145002356-chr1:145004395..145006145,2	MCF-7	breast:
39	chr1:145058717..145059705-chr1:197277579..197278292,2	MCF-7	breast:
40	chr1:144934397..144936617-chr1:145058068..145059656,2	MCF-7	breast:
41	chr1:145006816..145009107-chr1:145057701..145060152,2	K562	blood:
42	chr1:144930877..144933652-chr1:144988569..144991245,4	MCF-7	breast:
43	chr1:144992899..144993435-chr1:145029983..145030524,2	MCF-7	breast:
44	chr1:144530904..144535858-chr1:144986921..144991934,7	K562	blood:
45	chr1:145108662..145110529-chr1:145382748..145385386,2	K562	blood:
46	chr1:145056819..145059219-chr1:145060207..145063114,3	K562	blood:
47	chr1:145006816..145009369-chr1:145057265..145060152,2	K562	blood:
48	chr1:144532050..144536421-chr1:145006819..145011373,9	K562	blood:
49	chr1:145128744..145130626-chr1:145382573..145384459,2	MCF-7	breast:
50	chr1:145096224..145096777-chr2:143635158..143635659,2	Hela-S3	cervix:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-3	chr1:145112627-145113408	ucscGeneNc_uc001epf_1
2	lnc-NBPF9-5	chr1:145018395-145018959	ENSG00000272755.1
3	lnc-NBPF9-3	chr1:145004781-145005286	NONHSAT005869
4	lnc-NBPF9-4	chr1:145016388-145016968	NONHSAT005870
5	lnc-NBPF9-4	chr1:145013726-145013828	NONHSAT005870
6	lnc-POLR3GL-6	chr1:145015873-145016011	NONHSAT005872
7	lnc-POLR3GL-6	chr1:145039590-145039851	NONHSAT005872
8	lnc-POLR3GL-6	chr1:145021112-145021167	NONHSAT005872
9	lnc-NOTCH2NL-3	chr1:145110974-145111762	ucscGeneNc_uc001epf_1
10	lnc-POLR3GL-6	chr1:145017881-145017999	NONHSAT005872
11	lnc-PDE4DIP-5	chr1:145088039-145088567	NONHSAT005874
12	lnc-NOTCH2NL-4	chr1:145044651-145044900	NONHSAT005873

No data

Variant related genes	Relation type
NUDT4P1	TF binding region
SEC22B	TF binding region
RN7SKP88	TF binding region
ENSG00000272755	TF binding region
PDE4DIP	TF binding region
ENSG00000271546	TF binding region
RNU6-1071P	TF binding region
NUDT4P1	CpG island
SEC22B	CpG island
RN7SKP88	CpG island
ENSG00000272755	CpG island
PDE4DIP	CpG island
ENSG00000271546	CpG island
RNU6-1071P	CpG island
ENSG00000273131	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000203843	chromatin interactions
ENSG00000079335	chromatin interactions
ENSG00000255182	chromatin interactions
ENSG00000115919	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000160972	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000167904	chromatin interactions
ENSG00000137574	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000169129	chromatin interactions
ENSG00000171735	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000180370	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000261139	chromatin interactions
ENSG00000139233	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000237436	chromatin interactions
ENSG00000239335	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000223491	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000120137	chromatin interactions
ENSG00000239306	chromatin interactions
NSMAF	miRNA target sites
SMAD7	miRNA target sites

Extended variants
information (count: 7673 )
Associated
traits (count: 183 )

Variant overlapped rSNPs/rCNVs (count:7673 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10752802	chr1:144990981-144990982	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs146101237	chr1:144990984-144990985	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs587669157	chr1:144991040-144991041	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs587742235	chr1:144991047-144991048	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs375386220	chr1:144991052-144991053	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs587695191	chr1:144991122-144991123	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs587733171	chr1:144991167-144991168	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs3123389	chr1:144991176-144991177	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs1664013	chr1:144991243-144991244	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs1778596	chr1:144991278-144991279	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs2921249	chr1:144991294-144991295	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs2596259	chr1:144991352-144991353	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs141873876	chr1:144991359-144991360	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs67445112	chr1:144991366-144991367	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs56104653	chr1:144991385-144991386	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs9701433	chr1:144991389-144991390	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs56259119	chr1:144991393-144991394	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs200998794	chr1:144991397-144991398	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201631176	chr1:144991404-144991405	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs200620961	chr1:144991406-144991407	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs6672899	chr1:144991409-144991410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs151242240	chr1:144991412-144991413	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs4649498	chr1:144991423-144991424	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs587622953	chr1:144991433-144991434	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs587717630	chr1:144991634-144991635	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs12141789	chr1:144991665-144991666	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs11808342	chr1:144991684-144991685	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs587771754	chr1:144991729-144991730	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs6675696	chr1:144991738-144991739	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs112637866	chr1:144991753-144991754	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs1778597	chr1:144991810-144991811	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs587671039	chr1:144991871-144991872	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs75781228	chr1:144991893-144991894	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs587704999	chr1:144991928-144991929	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs587756961	chr1:144991948-144991949	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs587636399	chr1:144991958-144991959	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs1778598	chr1:144991959-144991960	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs587709934	chr1:144991972-144991973	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs1664014	chr1:144991992-144991993	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs587630067	chr1:144992007-144992008	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs199611273	chr1:144992008-144992009	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs587594020	chr1:144992012-144992013	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs587659078	chr1:144992047-144992048	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs587714545	chr1:144992092-144992093	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs373505809	chr1:144992098-144992099	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs2590126	chr1:144992126-144992127	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs1664015	chr1:144992142-144992143	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs1778599	chr1:144992151-144992152	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs376470559	chr1:144992175-144992176	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs587667473	chr1:144992181-144992182	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:183)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:7555 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144983000-144997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:144983200-144992000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:144983400-144991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:144983400-144991800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:144983400-144994000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:144983400-144994200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:144983400-144994200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:144983800-144991800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:144985800-144993400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:144987000-144993000	Weak transcription	Lung	lung
11	chr1:144987000-144994400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:144987800-144991000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:144987800-144991200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:144987800-144991800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:144988000-144991000	Enhancers	Brain Substantia Nigra	brain
16	chr1:144988000-144996400	Genic enhancers	Brain Germinal Matrix	brain
17	chr1:144988600-144991600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:144988600-144991800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:144988800-144991800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:144989000-144992200	Enhancers	Fetal Brain Female	brain
21	chr1:144989000-144993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:144989000-144993800	Transcr. at gene 5' and 3'	K562	blood
23	chr1:144989600-144991200	Enhancers	Fetal Intestine Small	intestine
24	chr1:144989600-144992400	Enhancers	Fetal Intestine Large	intestine
25	chr1:144989800-144991000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:144989800-144991000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:144989800-144991000	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:144989800-144991200	Enhancers	Brain Angular Gyrus	brain
29	chr1:144989800-144991200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:144989800-144991200	Weak transcription	Esophagus	oesophagus
31	chr1:144989800-144991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:144989800-144991600	Flanking Active TSS	Fetal Heart	heart
33	chr1:144989800-144991800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:144989800-144991800	Active TSS	Right Ventricle	heart
35	chr1:144989800-144991800	Enhancers	NHLF	lung
36	chr1:144989800-144992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:144989800-144994200	Weak transcription	Fetal Kidney	kidney
38	chr1:144989800-144995400	Active TSS	Left Ventricle	heart
39	chr1:144990000-144991000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:144990000-144991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:144990000-144991200	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:144990000-144991200	Weak transcription	Pancreas	Pancrea
43	chr1:144990000-144991200	Active TSS	Right Atrium	heart
44	chr1:144990000-144991200	Enhancers	NHDF-Ad	bronchial
45	chr1:144990000-144991400	Enhancers	Adipose Nuclei	Adipose
46	chr1:144990000-144991400	Weak transcription	Aorta	Aorta
47	chr1:144990000-144991400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:144990000-144991600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:144990000-144991600	Enhancers	Fetal Muscle Leg	muscle
50	chr1:144990000-144991800	Weak transcription	H9 Cell Line	embryonic stem cell

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