Variant report

Variant	esv3404764
Chromosome Location	chr1:94372564-94377162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:94375931-94376232	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:94374926-94375295	K562	blood:	n/a	n/a
3	ARID3A	chr1:94374945-94375386	HepG2	liver:	n/a	n/a
4	ATF2	chr1:94375039-94375433	GM12878	blood:	n/a	n/a
5	ATF2	chr1:94374831-94375599	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:94374827-94375256	K562	blood:	n/a	chr1:94375165-94375174 chr1:94375190-94375199
7	ATF3	chr1:94374938-94375358	K562	blood:	n/a	chr1:94375165-94375174 chr1:94375190-94375199
8	BACH1	chr1:94374230-94375589	K562	blood:	n/a	n/a
9	BACH1	chr1:94374217-94375497	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr1:94374857-94375401	GM12878	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374904-94374913 chr1:94374931-94374944 chr1:94374954-94374967 chr1:94375129-94375142 chr1:94374899-94374912
11	BCLAF1	chr1:94375020-94375426	GM12878	blood:	n/a	chr1:94375184-94375197 chr1:94375068-94375081 chr1:94375129-94375142
12	BCLAF1	chr1:94374802-94375369	K562	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374904-94374913 chr1:94374931-94374944 chr1:94374836-94374849 chr1:94374954-94374967 chr1:94375129-94375142 chr1:94374899-94374912 chr1:94374842-94374855
13	BCLAF1	chr1:94374826-94375435	K562	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374904-94374913 chr1:94374931-94374944 chr1:94374836-94374849 chr1:94374954-94374967 chr1:94375129-94375142 chr1:94374899-94374912 chr1:94374842-94374855
14	BCLAF1	chr1:94374936-94375451	GM12878	blood:	n/a	chr1:94375184-94375197 chr1:94374989-94374997 chr1:94375068-94375081 chr1:94374954-94374967 chr1:94375129-94375142
15	BHLHE40	chr1:94374870-94375633	K562	blood:	n/a	chr1:94375066-94375082 chr1:94375191-94375207
16	BHLHE40	chr1:94375009-94375476	GM12878	blood:	n/a	chr1:94375066-94375082 chr1:94375191-94375207
17	BRCA1	chr1:94375004-94375394	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr1:94374959-94375041	GM12878	blood:	n/a	n/a
19	CBX3	chr1:94374793-94375777	K562	blood:	n/a	n/a
20	CBX3	chr1:94374903-94375344	K562	blood:	n/a	n/a
21	CCNT2	chr1:94374329-94375458	K562	blood:	n/a	chr1:94375075-94375084
22	CEBPB	chr1:94375030-94375154	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:94374914-94375185	K562	blood:	n/a	n/a
24	CEBPB	chr1:94374780-94375254	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr1:94374994-94375418	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr1:94374935-94375379	Hela-S3	cervix:	n/a	n/a
27	CHD1	chr1:94374187-94374327	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr1:94374837-94375565	GM12878	blood:	n/a	chr1:94375076-94375086
29	CHD1	chr1:94374804-94375272	H1-hESC	embryonic stem cell:	n/a	chr1:94375076-94375086
30	CHD1	chr1:94373019-94376024	IMR90	lung:	n/a	chr1:94375076-94375086
31	CHD2	chr1:94374875-94375421	K562	blood:	n/a	chr1:94375076-94375086
32	CHD2	chr1:94374494-94374588	K562	blood:	n/a	n/a
33	CHD2	chr1:94374987-94375733	GM12878	blood:	n/a	chr1:94375076-94375086
34	CHD2	chr1:94374236-94375394	Hela-S3	cervix:	n/a	chr1:94375076-94375086
35	CHD2	chr1:94375146-94375346	HepG2	liver:	n/a	n/a
36	CHD2	chr1:94374945-94375489	H1-hESC	embryonic stem cell:	n/a	chr1:94375076-94375086
37	CREB1	chr1:94374860-94375649	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr1:94374955-94375582	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr1:94374847-94375535	K562	blood:	n/a	n/a
40	CREB1	chr1:94374750-94375487	A549	lung:	n/a	n/a
41	CREB1	chr1:94374835-94375572	GM12878	blood:	n/a	n/a
42	CREB1	chr1:94374839-94375582	HepG2	liver:	n/a	n/a
43	CTBP2	chr1:94374345-94375417	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:94374965-94375784	HCT-116	colon:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
45	CTCF	chr1:94375160-94375310	HFF-Myc	foreskin:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
46	CTCF	chr1:94375052-94375448	Fibrobl	skin:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
47	CTCF	chr1:94375109-94375414	SK-N-SH_RA	brain:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
48	CTCF	chr1:94375160-94375310	NB4	blood:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
49	CTCF	chr1:94375200-94375350	SAEC	small airway:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237
50	CTCF	chr1:94375069-94375384	Kidney_OC	kidney:	n/a	chr1:94375221-94375234 chr1:94375220-94375236 chr1:94375225-94375234 chr1:94375219-94375237

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94375328-94375378	T-47D	breast:	n/a
2	chr1:94375328-94375378	T-47D	breast:	n/a
3	chr1:94374966-94375016	Hepatocyte	liver:	n/a
4	chr1:94375598-94375648	AG04449	skin:	fetal
5	chr1:94375598-94375648	HCF	heart:	n/a
6	chr1:94375159-94375209	SAEC	small airway:	n/a
7	chr1:94375598-94375648	HCT-116	colon:	n/a
8	chr1:94375328-94375378	GM12891	blood:	n/a
9	chr1:94374370-94374420	Caco-2	colon:	n/a
10	chr1:94373434-94373484	SK-N-SH_RA	brain:	n/a
11	chr1:94374966-94375016	NT2-D1	testis:	n/a
12	chr1:94374370-94374420	GM06990	blood:	n/a
13	chr1:94374612-94374662	HL-60	blood:	n/a
14	chr1:94373434-94373484	HepG2	liver:	n/a
15	chr1:94373434-94373484	NHBE	bronchial:	n/a
16	chr1:94374268-94374318	AG09309	skin:	n/a
17	chr1:94375517-94375567	Jurkat	blood:	n/a
18	chr1:94375328-94375378	LNCaP	prostate:	n/a
19	chr1:94375027-94375077	PANC-1	pancreas:	n/a
20	chr1:94374268-94374318	AG09319	gingival:	n/a
21	chr1:94375328-94375378	HIPEpiC	eye:	n/a
22	chr1:94374370-94374420	HNPCEpiC	eye:	n/a
23	chr1:94373434-94373484	HUVEC	blood vessel:	n/a
24	chr1:94375328-94375378	HMEC	breast:	n/a
25	chr1:94374370-94374420	Jurkat	blood:	n/a
26	chr1:94375246-94375296	PFSK-1	brain:	n/a
27	chr1:94374370-94374420	HEEpiC	esophagus:	n/a
28	chr1:94374612-94374662	U87	brain:	n/a
29	chr1:94373434-94373484	T-47D	breast:	n/a
30	chr1:94375392-94375442	HUVEC	blood vessel:	n/a
31	chr1:94375517-94375567	HRE	kidney:	n/a
32	chr1:94374966-94375016	MCF-7	breast:	n/a
33	chr1:94375328-94375378	RPTEC	kidney:	n/a
34	chr1:94374612-94374662	K562	blood:	n/a
35	chr1:94375517-94375567	GM19239	blood:	n/a
36	chr1:94375517-94375567	ovcar-3	ovarian:	n/a
37	chr1:94375246-94375296	HMEC	breast:	n/a
38	chr1:94375598-94375648	IMR90	lung:	fetal
39	chr1:94374370-94374420	AG04450	lung:	fetal
40	chr1:94375027-94375077	NB4	blood:	n/a
41	chr1:94374612-94374662	HEK293	kidney:	embryo
42	chr1:94375027-94375077	GM12892	blood:	n/a
43	chr1:94373434-94373484	HCPEpiC	choroid plexus:	n/a
44	chr1:94375159-94375209	HAEpiC	amniotic membrane:	n/a
45	chr1:94373434-94373484	HEK293	kidney:	embryo
46	chr1:94373434-94373484	GM06990	blood:	n/a
47	chr1:94375598-94375648	SK-N-MC	brain:	n/a
48	chr1:94373434-94373484	NB4	blood:	n/a
49	chr1:94374268-94374318	NT2-D1	testis:	n/a
50	chr1:94375517-94375567	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
2	chr1:94310017..94313015-chr1:94371318..94373997,3	K562	blood:
3	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
4	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
5	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
6	chr1:94350854..94353775-chr1:94372233..94374131,2	K562	blood:
7	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
8	chr1:94374517..94375294-chr5:612302..612832,2	Hela-S3	cervix:
9	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
10	chr1:94370087..94372566-chr1:94373448..94376204,3	MCF-7	breast:
11	chr1:94375220..94377246-chr1:94405325..94407050,2	MCF-7	breast:
12	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
13	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
14	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
15	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:
16	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
17	chr1:94310017..94311987-chr1:94371318..94373172,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-2	chr1:94374221-94374480	NONHSAT004556

Variant related genes	Relation type
GCLM	TF binding region
GCLM	CpG island
ENSG00000112877	chromatin interactions
ENSG00000117505	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000067334	chromatin interactions
ENSG00000023909	chromatin interactions
ENSG00000198691	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000249650	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000223745	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192990945	chr1:94372564-94372565	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs144004895	chr1:94372602-94372603	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs549891129	chr1:94372605-94372606	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs544847901	chr1:94372619-94372620	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs12410324	chr1:94372626-94372627	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184840948	chr1:94372648-94372649	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs533494150	chr1:94372658-94372659	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs527547046	chr1:94372712-94372713	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs375490370	chr1:94372736-94372737	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs547679395	chr1:94372738-94372739	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs189609148	chr1:94372764-94372765	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs536402381	chr1:94372784-94372785	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs554749599	chr1:94372795-94372796	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs2301022	chr1:94372878-94372879	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537086569	chr1:94372892-94372893	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs558248868	chr1:94372971-94372972	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs192525063	chr1:94372978-94372979	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs545311787	chr1:94372979-94372980	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs144545470	chr1:94373004-94373005	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs367733899	chr1:94373070-94373071	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs572308764	chr1:94373106-94373107	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs373019148	chr1:94373116-94373117	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs74436359	chr1:94373296-94373297	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs531689710	chr1:94373389-94373390	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs543869121	chr1:94373441-94373442	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs17879576	chr1:94373450-94373451	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs545408175	chr1:94373476-94373477	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs565149678	chr1:94373531-94373532	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs539301696	chr1:94373585-94373586	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs532494351	chr1:94373665-94373666	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs529368172	chr1:94373713-94373714	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs547715224	chr1:94373760-94373761	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs371516926	chr1:94373873-94373874	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs549232835	chr1:94373892-94373893	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs17880726	chr1:94373945-94373946	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs201826617	chr1:94373957-94373958	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs529952647	chr1:94373979-94373980	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs3789453	chr1:94374026-94374027	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs551647187	chr1:94374033-94374034	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs183871736	chr1:94374124-94374125	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs368967352	chr1:94374125-94374126	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs370177814	chr1:94374127-94374128	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs571555060	chr1:94374138-94374139	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs201126342	chr1:94374139-94374140	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs536770806	chr1:94374164-94374165	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs142330572	chr1:94374197-94374198	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs376087411	chr1:94374215-94374216	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs534274457	chr1:94374231-94374232	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs113611119	chr1:94374294-94374295	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs572388986	chr1:94374306-94374307	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94345000-94374200	Weak transcription	Gastric	stomach
2	chr1:94345000-94374200	Weak transcription	Spleen	Spleen
3	chr1:94345200-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:94345200-94374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94345400-94373200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:94345400-94373200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:94345400-94373800	Weak transcription	Fetal Stomach	stomach
8	chr1:94345400-94374000	Weak transcription	Right Ventricle	heart
9	chr1:94345600-94373000	Weak transcription	Fetal Brain Female	brain
10	chr1:94345600-94373200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:94345600-94373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:94345600-94373200	Weak transcription	Fetal Brain Male	brain
13	chr1:94345600-94373400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:94345600-94373400	Weak transcription	Psoas Muscle	Psoas
15	chr1:94345600-94373400	Weak transcription	Stomach Mucosa	stomach
16	chr1:94345600-94373600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:94347400-94374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:94352800-94373000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:94354200-94372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:94354600-94373400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:94356600-94372600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:94357200-94373800	Weak transcription	Thymus	Thymus
23	chr1:94357400-94374000	Weak transcription	Aorta	Aorta
24	chr1:94357600-94374200	Weak transcription	Pancreas	Pancrea
25	chr1:94357800-94373200	Weak transcription	Esophagus	oesophagus
26	chr1:94357800-94374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:94359800-94373800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:94359800-94374000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:94360400-94373200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:94360800-94373000	Weak transcription	Fetal Heart	heart
31	chr1:94362400-94373200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:94362400-94373200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:94362400-94373200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:94362600-94373200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:94362600-94373400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:94362600-94373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:94362600-94374200	Weak transcription	Left Ventricle	heart
38	chr1:94362800-94373000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:94362800-94373200	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:94362800-94373400	Weak transcription	Fetal Thymus	thymus
41	chr1:94362800-94374000	Weak transcription	Ovary	ovary
42	chr1:94363000-94373200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:94363400-94373200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:94366200-94373400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94366800-94374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:94367000-94372600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:94367000-94373200	Weak transcription	HSMMtube	muscle
48	chr1:94367200-94372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:94367200-94373000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:94367200-94373400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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