Variant report

Variant	nsv1000151
Chromosome Location	chr1:145004743-145107641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4178)
CpG islands
(count:3114)
Chromatin interactive
region (count:278)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4178 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145061354-145062417	K562	blood:	n/a	n/a
2	ARID3A	chr1:145012025-145018939	K562	blood:	n/a	chr1:145012568-145012584 chr1:145012567-145012583
3	ARID3A	chr1:145014466-145014972	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:145007845-145011203	K562	blood:	n/a	n/a
5	ARID3A	chr1:145005457-145007401	K562	blood:	n/a	n/a
6	ARID3A	chr1:145089768-145090509	K562	blood:	n/a	n/a
7	ARID3A	chr1:145096149-145096769	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:145039806-145040082	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:145023275-145025964	K562	blood:	n/a	n/a
10	ARID3A	chr1:145098092-145098776	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:145027372-145031947	K562	blood:	n/a	n/a
12	ARID3A	chr1:145091964-145092746	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:145054062-145056297	K562	blood:	n/a	chr1:145054435-145054451 chr1:145054273-145054289 chr1:145054272-145054288 chr1:145054436-145054452
14	ARID3A	chr1:145000157-145004850	K562	blood:	n/a	chr1:145001553-145001569 chr1:145004748-145004764
15	ARID3A	chr1:145040639-145043538	K562	blood:	n/a	n/a
16	ARID3A	chr1:145083440-145084471	K562	blood:	n/a	n/a
17	ARID3A	chr1:145058588-145061058	K562	blood:	n/a	n/a
18	ARID3A	chr1:145040051-145040226	K562	blood:	n/a	n/a
19	ATF1	chr1:145032820-145034366	K562	blood:	n/a	n/a
20	ATF1	chr1:145023255-145025928	K562	blood:	n/a	n/a
21	ATF1	chr1:145069602-145070170	K562	blood:	n/a	n/a
22	ATF1	chr1:145037166-145037364	K562	blood:	n/a	n/a
23	ATF1	chr1:145001703-145004761	K562	blood:	n/a	n/a
24	ATF1	chr1:145008736-145009963	K562	blood:	n/a	n/a
25	ATF1	chr1:145073353-145074236	K562	blood:	n/a	n/a
26	ATF1	chr1:145018078-145018857	K562	blood:	n/a	n/a
27	ATF1	chr1:145082093-145082887	K562	blood:	n/a	n/a
28	ATF1	chr1:145058458-145062743	K562	blood:	n/a	n/a
29	ATF1	chr1:145078844-145078995	K562	blood:	n/a	n/a
30	ATF1	chr1:145068286-145068723	K562	blood:	n/a	n/a
31	ATF1	chr1:145014382-145016089	K562	blood:	n/a	n/a
32	ATF1	chr1:145070839-145072121	K562	blood:	n/a	n/a
33	ATF1	chr1:145042745-145043636	K562	blood:	n/a	n/a
34	ATF1	chr1:145012108-145014066	K562	blood:	n/a	n/a
35	ATF1	chr1:145098857-145100009	K562	blood:	n/a	n/a
36	ATF1	chr1:145029752-145031659	K562	blood:	n/a	n/a
37	ATF1	chr1:145077527-145078634	K562	blood:	n/a	n/a
38	ATF1	chr1:145054709-145055914	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	chr1:145083579-145084451	K562	blood:	n/a	n/a
42	ATF1	chr1:145096190-145096629	K562	blood:	n/a	n/a
43	ATF1	chr1:145086819-145087312	K562	blood:	n/a	n/a
44	ATF1	chr1:145020634-145021790	K562	blood:	n/a	n/a
45	ATF1	chr1:145090189-145090575	K562	blood:	n/a	n/a
46	ATF1	chr1:145074748-145075398	K562	blood:	n/a	n/a
47	ATF2	chr1:145039150-145040178	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr1:145092143-145092822	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr1:145058834-145059345	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr1:145092073-145092999	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3114 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145059467-145059517	BE2_C	brain:	n/a
2	chr1:145039893-145039943	MCF-7	breast:	n/a
3	chr1:145095823-145095873	HAEpiC	amniotic membrane:	n/a
4	chr1:145059467-145059517	BE2_C	brain:	n/a
5	chr1:145039893-145039943	MCF-7	breast:	n/a
6	chr1:145095823-145095873	HAEpiC	amniotic membrane:	n/a
7	chr1:145017064-145017114	IMR90	lung:	fetal
8	chr1:145059467-145059517	HRCEpiC	kidney:	n/a
9	chr1:145039893-145039943	AoSMC	blood vessel:	n/a
10	chr1:145096479-145096529	AG09319	gingival:	n/a
11	chr1:145077772-145077822	MCF10A-Er-Src	breast:	n/a
12	chr1:145104707-145104757	HRCEpiC	kidney:	n/a
13	chr1:145015987-145016037	HRE	kidney:	n/a
14	chr1:145095823-145095873	Jurkat	blood:	n/a
15	chr1:145092485-145092535	NHDF-neo	bronchial:	n/a
16	chr1:145096321-145096371	Hela-S3	cervix:	n/a
17	chr1:145073743-145073793	PFSK-1	brain:	n/a
18	chr1:145089017-145089067	BE2_C	brain:	n/a
19	chr1:145095823-145095873	GM12878	blood:	n/a
20	chr1:145079447-145079497	Jurkat	blood:	n/a
21	chr1:145021703-145021753	AG04450	lung:	fetal
22	chr1:145096849-145096899	Hepatocyte	liver:	n/a
23	chr1:145015987-145016037	HUVEC	blood vessel:	n/a
24	chr1:145040886-145040936	CMK	blood:	n/a
25	chr1:145089017-145089067	U87	brain:	n/a
26	chr1:145079447-145079497	SKMC	muscle:	n/a
27	chr1:145035112-145035162	GM12878	blood:	n/a
28	chr1:145040506-145040556	GM12891	blood:	n/a
29	chr1:145089017-145089067	H1-hESC	embryonic stem cell:	embryo
30	chr1:145096602-145096652	HAEpiC	amniotic membrane:	n/a
31	chr1:145039882-145039932	ProgFib	skin:	n/a
32	chr1:145040886-145040936	HIPEpiC	eye:	n/a
33	chr1:145092485-145092535	PFSK-1	brain:	n/a
34	chr1:145104707-145104757	A549	lung:	n/a
35	chr1:145096321-145096371	HL-60	blood:	n/a
36	chr1:145096602-145096652	LNCaP	prostate:	n/a
37	chr1:145039893-145039943	PrEC	prostate:	n/a
38	chr1:145096849-145096899	HRE	kidney:	n/a
39	chr1:145096849-145096899	SK-N-SH_RA	brain:	n/a
40	chr1:145039638-145039688	BE2_C	brain:	n/a
41	chr1:145040506-145040556	HIPEpiC	eye:	n/a
42	chr1:145021703-145021753	HEEpiC	esophagus:	n/a
43	chr1:145096236-145096286	Caco-2	colon:	n/a
44	chr1:145023679-145023729	HCPEpiC	choroid plexus:	n/a
45	chr1:145021703-145021753	SAEC	small airway:	n/a
46	chr1:145077772-145077822	HRCEpiC	kidney:	n/a
47	chr1:145054779-145054829	BE2_C	brain:	n/a
48	chr1:145039741-145039791	SK-N-SH_RA	brain:	n/a
49	chr1:145023679-145023729	IMR90	lung:	fetal
50	chr1:145040160-145040210	HCT-116	colon:	n/a

(count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:144993800..144995715-chr1:145096861..145099755,2	K562	blood:
2	chr1:145038465..145040335-chr1:145073529..145077328,4	MCF-7	breast:
3	chr1:145043001..145044851-chr1:145077921..145079924,2	K562	blood:
4	chr1:144533700..144535665-chr1:145063411..145067268,4	K562	blood:
5	chr1:145069551..145072010-chr1:145087296..145089112,2	K562	blood:
6	chr1:145013143..145015357-chr1:145059234..145060924,2	K562	blood:
7	chr1:120413290..120414192-chr1:145061552..145062410,3	MCF-7	breast:
8	chr1:144931817..144933993-chr1:145053642..145055745,2	MCF-7	breast:
9	chr1:144992899..144993435-chr1:145029983..145030524,2	MCF-7	breast:
10	chr1:145083894..145086416-chr1:145095361..145097533,3	MCF-7	breast:
11	chr1:144989112..144989905-chr1:145061477..145061994,2	MCF-7	breast:
12	chr1:145070529..145074002-chr1:145081962..145084484,3	K562	blood:
13	chr1:145025247..145027949-chr1:145103213..145105927,2	K562	blood:
14	chr1:145003130..145005875-chr1:149855420..149857105,2	K562	blood:
15	chr1:145045315..145047510-chr1:145064968..145067113,2	K562	blood:
16	chr1:144931155..144934615-chr1:145010020..145012641,3	MCF-7	breast:
17	chr1:145032352..145035242-chr1:145073203..145075747,2	K562	blood:
18	chr1:144531776..144534178-chr1:145095593..145097406,2	K562	blood:
19	chr1:144997738..145000659-chr1:145007857..145011011,3	MCF-7	breast:
20	chr1:144991810..144992601-chr1:145058676..145059206,2	K562	blood:
21	chr1:120428584..120429097-chr1:145061707..145062386,2	MCF-7	breast:
22	chr1:145082860..145085361-chr1:145086854..145088510,5	K562	blood:
23	chr1:145013488..145015671-chr1:145056479..145059269,3	MCF-7	breast:
24	chr1:144991875..144996644-chr1:145057208..145061569,6	K562	blood:
25	chr1:145068951..145071595-chr1:145074959..145076825,3	MCF-7	breast:
26	chr1:144917481..144919146-chr1:145058283..145060040,20	MCF-7	breast:
27	chr1:145046292..145047913-chr1:145054684..145056365,2	MCF-7	breast:
28	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
29	chr1:145044952..145047595-chr11:118963973..118966886,2	MCF-7	breast:
30	chr1:105552243..105552969-chr1:145064848..145065468,2	MCF-7	breast:
31	chr1:144931701..144934508-chr1:145029528..145032354,3	MCF-7	breast:
32	chr1:144988330..144990331-chr1:145096274..145097862,2	MCF-7	breast:
33	chr1:144931749..144933730-chr1:145045667..145048235,2	MCF-7	breast:
34	chr1:144533474..144535721-chr1:145039954..145042434,2	K562	blood:
35	chr1:145061658..145065193-chr1:145068421..145071280,4	MCF-7	breast:
36	chr1:145073676..145075206-chr1:145114434..145117325,2	MCF-7	breast:
37	chr1:144987449..144989888-chr1:145029054..145030857,2	MCF-7	breast:
38	chr1:145013891..145015151-chr1:145058685..145059554,6	K562	blood:
39	chr1:145068824..145071051-chr1:145086179..145089112,2	K562	blood:
40	chr1:144930556..144933570-chr1:145030633..145032762,3	MCF-7	breast:
41	chr1:145016166..145017682-chr1:145058594..145060560,2	K562	blood:
42	chr1:145014851..145016441-chr1:145076191..145078114,2	K562	blood:
43	chr1:144930056..144932339-chr1:145016108..145018468,2	MCF-7	breast:
44	chr1:145014334..145015129-chr1:145055872..145056456,2	MCF-7	breast:
45	chr1:144989491..144990907-chr1:145058682..145059954,10	MCF-7	breast:
46	chr1:145032581..145034474-chr1:145068467..145071383,2	MCF-7	breast:
47	chr1:145096186..145098889-chr12:66522673..66525529,2	MCF-7	breast:
48	chr1:145005888..145007907-chr1:145011945..145014640,3	MCF-7	breast:
49	chr1:145013488..145015671-chr1:145056479..145059269,3	MCF-7	breast:
50	chr1:145005888..145007907-chr1:145011945..145014640,3	MCF-7	breast:

(count:10 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
SEC22B	TF binding region
RN7SKP88	TF binding region
ENSG00000272755	TF binding region
PDE4DIP	TF binding region
ENSG00000271546	TF binding region
SEC22B	CpG island
RN7SKP88	CpG island
ENSG00000272755	CpG island
PDE4DIP	CpG island
ENSG00000271546	CpG island
ENSG00000188486	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000237436	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000169129	chromatin interactions
ENSG00000115514	chromatin interactions
ENSG00000139233	chromatin interactions
ENSG00000137574	chromatin interactions
ENSG00000115919	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000120137	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000158417	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000171735	chromatin interactions
ENSG00000167904	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000239335	chromatin interactions

Extended variants
information (count: 4349 )
Associated
traits (count: 179 )

Variant overlapped rSNPs/rCNVs (count:4349 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12064789	chr1:145004743-145004744	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs587615229	chr1:145004788-145004789	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs370107239	chr1:145004801-145004802	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs587668624	chr1:145004805-145004806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs587699430	chr1:145004821-145004822	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs375828914	chr1:145004828-145004829	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs1778726	chr1:145004852-145004853	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs587605946	chr1:145004916-145004917	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs12057330	chr1:145004943-145004944	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs12064877	chr1:145004953-145004954	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs587653596	chr1:145004961-145004962	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs587745666	chr1:145004977-145004978	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs574632	chr1:145005161-145005162	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs199920960	chr1:145005169-145005170	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs200870820	chr1:145005171-145005172	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs587603465	chr1:145005190-145005191	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs12061605	chr1:145005203-145005204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs112146732	chr1:145005227-145005228	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs112724060	chr1:145005242-145005243	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs587679806	chr1:145005272-145005273	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs587738722	chr1:145005294-145005295	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113902549	chr1:145005307-145005308	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs12119642	chr1:145005406-145005407	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs12119669	chr1:145005430-145005431	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs139979382	chr1:145005431-145005432	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs202222272	chr1:145005439-145005440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373106491	chr1:145005442-145005443	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs77544116	chr1:145005443-145005444	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs78450651	chr1:145005445-145005446	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs75709510	chr1:145005447-145005448	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs79031612	chr1:145005448-145005449	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs10797612	chr1:145005462-145005463	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12402341	chr1:145005493-145005494	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs202196811	chr1:145005518-145005519	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112185153	chr1:145005571-145005572	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs3845325	chr1:145005685-145005686	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs3845326	chr1:145005775-145005776	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587740278	chr1:145005949-145005950	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs587627958	chr1:145005964-145005965	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs587679225	chr1:145005976-145005977	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs587774708	chr1:145005980-145005981	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1778725	chr1:145005985-145005986	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs67254896	chr1:145006010-145006011	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs587637835	chr1:145006012-145006013	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs60825121	chr1:145006014-145006015	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587713373	chr1:145006093-145006094	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs587770751	chr1:145006132-145006133	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587641442	chr1:145006141-145006142	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587704849	chr1:145006214-145006215	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs10910688	chr1:145006282-145006283	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:179)

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
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
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

Chromatin state (count:4700 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144992600-145007800	Weak transcription	HMEC	breast
2	chr1:144995000-145005600	Weak transcription	NH-A	brain
3	chr1:144995800-145004800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:144995800-145008600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:144996600-145008600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:144997400-145007800	Weak transcription	NHEK	skin
7	chr1:144998000-145009000	Weak transcription	Stomach Mucosa	stomach
8	chr1:144999200-145008600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:145000400-145008400	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr1:145000400-145010200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:145000600-145008000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:145000800-145006000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:145000800-145009000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:145000800-145009000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:145000800-145021600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:145001000-145004800	Weak transcription	Fetal Stomach	stomach
17	chr1:145001000-145005600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:145001000-145005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:145001000-145006000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:145001000-145006000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:145001000-145006000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:145001000-145006000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:145001000-145006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:145001000-145008000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:145001000-145009000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:145001200-145006200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:145001400-145008400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:145001600-145008400	Weak transcription	Primary B cells from cord blood	blood
29	chr1:145002000-145005000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:145002400-145004800	Genic enhancers	Osteobl	bone
31	chr1:145002800-145004800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:145002800-145006200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:145002800-145012000	Weak transcription	Pancreas	Pancrea
34	chr1:145002800-145024200	Weak transcription	Gastric	stomach
35	chr1:145003200-145005000	Genic enhancers	HSMM	muscle
36	chr1:145003200-145005600	Enhancers	Fetal Lung	lung
37	chr1:145003200-145006600	Genic enhancers	Aorta	Aorta
38	chr1:145003400-145005600	Weak transcription	Fetal Brain Male	brain
39	chr1:145003600-145004800	Enhancers	Primary T cells from cord blood	blood
40	chr1:145003600-145005000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:145003600-145006000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:145003800-145004800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:145003800-145004800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:145003800-145004800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr1:145003800-145004800	Genic enhancers	Brain Cingulate Gyrus	brain
46	chr1:145003800-145004800	Flanking Active TSS	K562	blood
47	chr1:145004000-145004800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:145004000-145004800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:145004000-145005000	Enhancers	Fetal Heart	heart
50	chr1:145004000-145014800	Strong transcription	Placenta	Placenta

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