Variant report

Variant	esv1826390
Chromosome Location	chr1:144943140-145085418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4488)
CpG islands
(count:2874)
Chromatin interactive
region (count:297)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4488 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145040639-145043538	K562	blood:	n/a	n/a
2	ARID3A	chr1:145058588-145061058	K562	blood:	n/a	n/a
3	ARID3A	chr1:145005457-145007401	K562	blood:	n/a	n/a
4	ARID3A	chr1:145061354-145062417	K562	blood:	n/a	n/a
5	ARID3A	chr1:144991522-144993662	K562	blood:	n/a	n/a
6	ARID3A	chr1:145027372-145031947	K562	blood:	n/a	n/a
7	ARID3A	chr1:145012025-145018939	K562	blood:	n/a	chr1:145012568-145012584 chr1:145012567-145012583
8	ARID3A	chr1:144997084-144999662	K562	blood:	n/a	n/a
9	ARID3A	chr1:145000157-145004850	K562	blood:	n/a	chr1:145001553-145001569 chr1:145004748-145004764
10	ARID3A	chr1:145040051-145040226	K562	blood:	n/a	n/a
11	ARID3A	chr1:145083440-145084471	K562	blood:	n/a	n/a
12	ARID3A	chr1:145039806-145040082	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:145007845-145011203	K562	blood:	n/a	n/a
14	ARID3A	chr1:145023275-145025964	K562	blood:	n/a	n/a
15	ARID3A	chr1:145054062-145056297	K562	blood:	n/a	chr1:145054435-145054451 chr1:145054273-145054289 chr1:145054272-145054288 chr1:145054436-145054452
16	ARID3A	chr1:145014466-145014972	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:144989106-144991213	K562	blood:	n/a	n/a
18	ARID3A	chr1:144988785-144990011	HepG2	liver:	n/a	n/a
19	ARID3A	chr1:144994237-144996744	K562	blood:	n/a	n/a
20	ATF1	chr1:144994316-144996366	K562	blood:	n/a	n/a
21	ATF1	chr1:145042745-145043636	K562	blood:	n/a	n/a
22	ATF1	chr1:145023255-145025928	K562	blood:	n/a	n/a
23	ATF1	chr1:145058458-145062743	K562	blood:	n/a	n/a
24	ATF1	chr1:145077527-145078634	K562	blood:	n/a	n/a
25	ATF1	chr1:145008736-145009963	K562	blood:	n/a	n/a
26	ATF1	chr1:144997529-144998431	K562	blood:	n/a	n/a
27	ATF1	chr1:145037166-145037364	K562	blood:	n/a	n/a
28	ATF1	chr1:145029752-145031659	K562	blood:	n/a	n/a
29	ATF1	chr1:145074748-145075398	K562	blood:	n/a	n/a
30	ATF1	chr1:145070839-145072121	K562	blood:	n/a	n/a
31	ATF1	chr1:145083579-145084451	K562	blood:	n/a	n/a
32	ATF1	chr1:145082093-145082887	K562	blood:	n/a	n/a
33	ATF1	chr1:145069602-145070170	K562	blood:	n/a	n/a
34	ATF1	chr1:145068286-145068723	K562	blood:	n/a	n/a
35	ATF1	chr1:145073353-145074236	K562	blood:	n/a	n/a
36	ATF1	chr1:145054709-145055914	K562	blood:	n/a	n/a
37	ATF1	chr1:145001703-145004761	K562	blood:	n/a	n/a
38	ATF1	chr1:144998715-144999351	K562	blood:	n/a	n/a
39	ATF1	chr1:145080812-145081067	K562	blood:	n/a	n/a
40	ATF1	chr1:145027502-145029034	K562	blood:	n/a	n/a
41	ATF1	chr1:144991677-144992162	K562	blood:	n/a	n/a
42	ATF1	chr1:145032820-145034366	K562	blood:	n/a	n/a
43	ATF1	chr1:145078844-145078995	K562	blood:	n/a	n/a
44	ATF1	chr1:145014382-145016089	K562	blood:	n/a	n/a
45	ATF1	chr1:144988840-144990055	K562	blood:	n/a	n/a
46	ATF1	chr1:145012108-145014066	K562	blood:	n/a	n/a
47	ATF1	chr1:145018078-145018857	K562	blood:	n/a	n/a
48	ATF1	chr1:145020634-145021790	K562	blood:	n/a	n/a
49	ATF2	chr1:145058834-145059345	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr1:145039150-145040178	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2874 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144994826-144994876	U87	brain:	n/a
2	chr1:145039741-145039791	GM12891	blood:	n/a
3	chr1:145039638-145039688	Caco-2	colon:	n/a
4	chr1:145077772-145077822	GM19239	blood:	n/a
5	chr1:145012822-145012872	AG09309	skin:	n/a
6	chr1:144994933-144994983	PrEC	prostate:	n/a
7	chr1:145054779-145054829	ovcar-3	ovarian:	n/a
8	chr1:144994826-144994876	U87	brain:	n/a
9	chr1:145039741-145039791	GM12891	blood:	n/a
10	chr1:145039638-145039688	Caco-2	colon:	n/a
11	chr1:145077772-145077822	GM19239	blood:	n/a
12	chr1:145012822-145012872	AG09309	skin:	n/a
13	chr1:144994933-144994983	PrEC	prostate:	n/a
14	chr1:145054779-145054829	ovcar-3	ovarian:	n/a
15	chr1:145040160-145040210	HAEpiC	amniotic membrane:	n/a
16	chr1:145076239-145076289	HMEC	breast:	n/a
17	chr1:145036025-145036075	HCF	heart:	n/a
18	chr1:145033094-145033144	AG04450	lung:	fetal
19	chr1:145004468-145004518	IMR90	lung:	fetal
20	chr1:145028465-145028515	AG09309	skin:	n/a
21	chr1:145039929-145039979	MCF10A-Er-Src	breast:	n/a
22	chr1:145039893-145039943	Hepatocyte	liver:	n/a
23	chr1:145079447-145079497	NHDF-neo	bronchial:	n/a
24	chr1:144998869-144998919	AG04450	lung:	fetal
25	chr1:145077772-145077822	CMK	blood:	n/a
26	chr1:145075538-145075588	NHDF-neo	bronchial:	n/a
27	chr1:145073743-145073793	NT2-D1	testis:	n/a
28	chr1:144952173-144952223	ECC-1	luminal epithelium:	n/a
29	chr1:145079447-145079497	K562	blood:	n/a
30	chr1:145039741-145039791	HCM	heart:	n/a
31	chr1:145023679-145023729	SKMC	muscle:	n/a
32	chr1:145059467-145059517	NB4	blood:	n/a
33	chr1:144952173-144952223	HNPCEpiC	eye:	n/a
34	chr1:145039638-145039688	NHBE	bronchial:	n/a
35	chr1:144995682-144995732	HCT-116	colon:	n/a
36	chr1:145039638-145039688	RPTEC	kidney:	n/a
37	chr1:144995101-144995151	SAEC	small airway:	n/a
38	chr1:144989624-144989674	PANC-1	pancreas:	n/a
39	chr1:144995889-144995939	HRCEpiC	kidney:	n/a
40	chr1:144994318-144994368	AG04449	skin:	fetal
41	chr1:145077772-145077822	HEK293	kidney:	embryo
42	chr1:145039741-145039791	GM19239	blood:	n/a
43	chr1:144994658-144994708	HIPEpiC	eye:	n/a
44	chr1:145004305-145004355	MCF-7	breast:	n/a
45	chr1:145003040-145003090	BE2_C	brain:	n/a
46	chr1:145077772-145077822	HNPCEpiC	eye:	n/a
47	chr1:145073743-145073793	HEK293	kidney:	embryo
48	chr1:145012822-145012872	HEK293	kidney:	embryo
49	chr1:145075831-145075881	SK-N-SH_RA	brain:	n/a
50	chr1:145021703-145021753	HRE	kidney:	n/a

(count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:145081885..145085259-chr1:145087352..145090342,5	K562	blood:
2	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
3	chr1:144927042..144929439-chr1:145000648..145002279,2	MCF-7	breast:
4	chr1:145041561..145043380-chr1:145095219..145097292,2	K562	blood:
5	chr1:144999707..145001666-chr1:145095290..145097407,2	K562	blood:
6	chr1:144999173..145001999-chr1:145037688..145039743,3	MCF-7	breast:
7	chr1:145073942..145076773-chr1:145095058..145097883,2	K562	blood:
8	chr1:145011807..145014868-chr1:145061675..145064921,5	K562	blood:
9	chr1:145061658..145065193-chr1:145068421..145071280,4	MCF-7	breast:
10	chr1:120413290..120414192-chr1:145061552..145062410,3	MCF-7	breast:
11	chr1:144991670..144992584-chr1:145058749..145059738,4	MCF-7	breast:
12	chr1:145076371..145079610-chr1:145081907..145086657,4	K562	blood:
13	chr1:145070825..145073370-chr1:145075606..145078023,2	K562	blood:
14	chr1:145076679..145079296-chr1:145102825..145104399,2	MCF-7	breast:
15	chr1:144533474..144535721-chr1:145039954..145042434,2	K562	blood:
16	chr1:144988001..144990859-chr1:145058247..145059747,33	MCF-7	breast:
17	chr1:145038465..145040335-chr1:145073529..145077328,4	MCF-7	breast:
18	chr1:144988890..144991160-chr1:145008732..145012540,3	MCF-7	breast:
19	chr1:144931749..144933730-chr1:145045667..145048235,2	MCF-7	breast:
20	chr1:144532739..144535051-chr1:145058991..145061540,3	K562	blood:
21	chr1:144999924..145002233-chr6:21588409..21590209,2	MCF-7	breast:
22	chr1:144993161..144995099-chr1:145058341..145060153,2	MCF-7	breast:
23	chr1:145016170..145017911-chr6:115806977..115809975,2	MCF-7	breast:
24	chr1:144534213..144536284-chr1:145054889..145056789,2	MCF-7	breast:
25	chr1:145052713..145055657-chr1:145057659..145059759,3	K562	blood:
26	chr1:145035558..145037358-chr1:145055855..145058557,2	K562	blood:
27	chr1:145054157..145055736-chr1:145057663..145060063,2	K562	blood:
28	chr1:145069991..145072792-chr1:145078438..145080718,2	K562	blood:
29	chr1:144930933..144933900-chr1:145065814..145068964,3	MCF-7	breast:
30	chr1:145023266..145026073-chr1:145059016..145061272,2	MCF-7	breast:
31	chr1:145032581..145034474-chr1:145068467..145071383,2	MCF-7	breast:
32	chr1:144995840..144996760-chr1:145055377..145055895,2	K562	blood:
33	chr1:144995215..144996797-chr1:147999077..148000694,2	MCF-7	breast:
34	chr1:145003631..145004191-chr1:145014605..145015136,2	K562	blood:
35	chr1:145045315..145047510-chr1:145064968..145067113,2	K562	blood:
36	chr1:145052529..145054250-chr1:145070398..145073752,3	K562	blood:
37	chr1:145032352..145035242-chr1:145073203..145075747,2	K562	blood:
38	chr1:145054096..145056410-chr1:147805245..147807903,2	K562	blood:
39	chr1:145039315..145039972-chr1:145058647..145059568,3	MCF-7	breast:
40	chr1:145014334..145015129-chr1:145055872..145056456,2	MCF-7	breast:
41	chr1:144999712..145002420-chr1:149856898..149859030,3	K562	blood:
42	chr1:144991670..144992584-chr1:145058749..145059738,4	MCF-7	breast:
43	chr1:145013098..145015242-chr1:145381594..145384249,2	MCF-7	breast:
44	chr1:145007566..145009681-chr1:145060269..145062517,2	K562	blood:
45	chr1:144992586..144994194-chr1:145030165..145032446,2	MCF-7	breast:
46	chr1:144946789..144948627-chr1:144995983..144997975,2	K562	blood:
47	chr1:145036819..145040211-chr1:145382559..145385935,4	MCF-7	breast:
48	chr1:144984721..144986263-chr1:144986371..144987987,2	MCF-7	breast:
49	chr1:144988937..144989757-chr1:145029836..145030458,2	MCF-7	breast:
50	chr1:145058445..145059351-chr12:58299064..58299785,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3GL-6	chr1:145017881-145017999	NONHSAT005872
2	lnc-POLR3GL-6	chr1:145015873-145016011	NONHSAT005872
3	lnc-NBPF9-3	chr1:145004781-145005286	NONHSAT005869
4	lnc-NOTCH2NL-4	chr1:145044651-145044900	NONHSAT005873
5	lnc-POLR3GL-6	chr1:145039590-145039851	NONHSAT005872
6	lnc-POLR3GL-6	chr1:145021112-145021167	NONHSAT005872
7	lnc-NBPF9-5	chr1:145018395-145018959	ENSG00000272755.1
8	lnc-NBPF9-4	chr1:145013726-145013828	NONHSAT005870
9	lnc-NBPF9-4	chr1:145016388-145016968	NONHSAT005870

No data

Variant related genes	Relation type
RN7SKP88	TF binding region
ENSG00000272755	TF binding region
PDE4DIP	TF binding region
ENSG00000268172	TF binding region
RNU2-38P	TF binding region
RN7SKP88	CpG island
ENSG00000272755	CpG island
PDE4DIP	CpG island
ENSG00000268172	CpG island
RNU2-38P	CpG island
ENSG00000226446	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000079335	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000203843	chromatin interactions
ENSG00000261139	chromatin interactions
ENSG00000223491	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000180370	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000169129	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000160972	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000255182	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000252656	chromatin interactions

Extended variants
information (count: 5727 )
Associated
traits (count: 172 )

Variant overlapped rSNPs/rCNVs (count:5727 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587697103	chr1:144943170-144943171	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs587756131	chr1:144943181-144943182	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs587650117	chr1:144943239-144943240	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587657853	chr1:144943277-144943278	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374840094	chr1:144943280-144943281	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201501376	chr1:144943323-144943324	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs587700528	chr1:144943381-144943382	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587760055	chr1:144943443-144943444	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs587614395	chr1:144943450-144943451	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587695907	chr1:144943451-144943452	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs587751591	chr1:144943476-144943477	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs587648397	chr1:144943544-144943545	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs77331420	chr1:144943601-144943602	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs1324344	chr1:144943602-144943603	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs587703475	chr1:144943608-144943609	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs143293163	chr1:144943696-144943697	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs587765465	chr1:144943697-144943698	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs587632872	chr1:144943707-144943708	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs587739958	chr1:144943714-144943715	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs587617421	chr1:144943750-144943751	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs587696717	chr1:144943787-144943788	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs112602537	chr1:144943807-144943808	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs587731558	chr1:144943864-144943865	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2762740	chr1:144943870-144943871	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs587607079	chr1:144943877-144943878	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs587668490	chr1:144943887-144943888	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs587740618	chr1:144943911-144943912	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200305367	chr1:144943950-144943951	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs141299732	chr1:144944033-144944034	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs587739021	chr1:144944049-144944050	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12145352	chr1:144944050-144944051	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs587616119	chr1:144944063-144944064	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs2798890	chr1:144944078-144944079	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs587694154	chr1:144944093-144944094	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs2762739	chr1:144944107-144944108	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113341377	chr1:144944119-144944120	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587620782	chr1:144944129-144944130	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587686125	chr1:144944136-144944137	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs587760665	chr1:144944158-144944159	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs587642336	chr1:144944175-144944176	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587741989	chr1:144944256-144944257	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186155650	chr1:144944261-144944262	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs587675048	chr1:144944330-144944331	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs386467240	chr1:144944352-144944353	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587610826	chr1:144944373-144944374	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587696893	chr1:144944537-144944538	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2762738	chr1:144944578-144944579	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs199624604	chr1:144944634-144944635	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12121079	chr1:144944655-144944656	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs587725064	chr1:144944674-144944675	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:172)

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

Chromatin state (count:5394 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144933200-144943800	Weak transcription	Lung	lung
2	chr1:144934000-144949000	Weak transcription	Spleen	Spleen
3	chr1:144935400-144944000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:144935400-144944000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:144936600-144948800	Weak transcription	Pancreas	Pancrea
6	chr1:144937000-144943800	Weak transcription	Esophagus	oesophagus
7	chr1:144937200-144943800	Weak transcription	Gastric	stomach
8	chr1:144937400-144948200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:144937800-144948400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:144938600-144943600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:144939200-144948800	Weak transcription	Colonic Mucosa	Colon
12	chr1:144939400-144943200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:144939400-144943200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:144939400-144943200	Weak transcription	HepG2	liver
15	chr1:144939800-144944000	Enhancers	Fetal Stomach	stomach
16	chr1:144939800-144952200	Strong transcription	K562	blood
17	chr1:144940000-144943200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:144940200-144943200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:144940400-144944000	Enhancers	Colon Smooth Muscle	Colon
20	chr1:144940600-144943400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:144940600-144943400	Genic enhancers	Fetal Muscle Leg	muscle
22	chr1:144940600-144944000	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:144940800-144944000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:144941000-144946200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:144941200-144943800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:144941200-144946400	Weak transcription	Fetal Intestine Small	intestine
27	chr1:144941400-144943200	Enhancers	Fetal Brain Female	brain
28	chr1:144941400-144943400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:144941400-144946800	Weak transcription	Stomach Mucosa	stomach
30	chr1:144941600-144943200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:144941600-144943200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:144941600-144943600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr1:144941600-144943800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:144941600-144944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:144941600-144945800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:144941600-144946800	Strong transcription	Liver	Liver
37	chr1:144941600-144946800	Weak transcription	Ovary	ovary
38	chr1:144941600-144950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:144941600-144951000	Strong transcription	Left Ventricle	heart
40	chr1:144941800-144943400	Strong transcription	Adipose Nuclei	Adipose
41	chr1:144941800-144944000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:144941800-144944200	Strong transcription	Brain Germinal Matrix	brain
43	chr1:144942000-144944000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:144942000-144944400	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:144942000-144945200	Genic enhancers	NHDF-Ad	bronchial
46	chr1:144942200-144944000	Strong transcription	Brain Substantia Nigra	brain
47	chr1:144942200-144946000	Weak transcription	HMEC	breast
48	chr1:144942200-144949600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:144942200-144960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:144942400-144943400	Genic enhancers	Aorta	Aorta

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