Variant report

Variant	esv3408612
Chromosome Location	chr1:9748390-9751238
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	chr1:9749162-9749449	K562	blood:	n/a	n/a
2	ARID3A	chr1:9749341-9749368	HepG2	liver:	n/a	n/a
3	BACH1	chr1:9749088-9749266	K562	blood:	n/a	n/a
4	BACH1	chr1:9749085-9749149	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr1:9749112-9749480	GM12878	blood:	n/a	chr1:9749312-9749328
6	BHLHE40	chr1:9748108-9748421	HepG2	liver:	n/a	n/a
7	BHLHE40	chr1:9746937-9748487	K562	blood:	n/a	chr1:9747668-9747684 chr1:9747647-9747663
8	BHLHE40	chr1:9749028-9749470	K562	blood:	n/a	chr1:9749312-9749328
9	BHLHE40	chr1:9747262-9748446	GM12878	blood:	n/a	chr1:9747668-9747684 chr1:9747647-9747663
10	BHLHE40	chr1:9749997-9750277	K562	blood:	n/a	n/a
11	BRCA1	chr1:9749201-9749470	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr1:9748896-9749389	K562	blood:	n/a	n/a
13	CCNT2	chr1:9749149-9749823	K562	blood:	n/a	chr1:9749756-9749765 chr1:9749397-9749406
14	CEBPB	chr1:9749058-9749460	Hela-S3	cervix:	n/a	n/a
15	CHD1	chr1:9749111-9749114	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr1:9749102-9749387	GM12878	blood:	n/a	n/a
17	CHD2	chr1:9749254-9749471	K562	blood:	n/a	n/a
18	CHD2	chr1:9750034-9750275	K562	blood:	n/a	n/a
19	CHD2	chr1:9748393-9748464	GM12878	blood:	n/a	n/a
20	CHD2	chr1:9749245-9749448	GM12878	blood:	n/a	n/a
21	CHD2	chr1:9750018-9750511	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:9749078-9749681	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr1:9749040-9749895	HepG2	liver:	n/a	n/a
24	CTCF	chr1:9750240-9750390	WERI-Rb-1	eye:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
25	CTCF	chr1:9750260-9750410	HCPEpiC	choroid plexus:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
26	CTCF	chr1:9750220-9750370	NHDF-neo	bronchial:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
27	CTCF	chr1:9750220-9750370	HPF	lung:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
28	CTCF	chr1:9749020-9749170	GM12864	blood:	n/a	n/a
29	CTCF	chr1:9750278-9750329	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:9750260-9750410	HRPEpiC	eye:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
31	CTCF	chr1:9750240-9750386	A549	lung:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
32	CTCF	chr1:9750220-9750370	HBMEC	blood vessel:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
33	CTCF	chr1:9750300-9750450	NHEK	skin:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
34	CTCF	chr1:9750240-9750390	NHDF-neo	bronchial:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
35	CTCF	chr1:9750220-9750370	HVMF	connective:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
36	CTCF	chr1:9750280-9750430	HRE	kidney:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
37	CTCF	chr1:9750280-9750430	HMF	breast:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
38	CTCF	chr1:9750260-9750410	RPTEC	kidney:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
39	CTCF	chr1:9750260-9750410	AG09319	gingival:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
40	CTCF	chr1:9750260-9750410	HMEC	breast:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
41	CTCF	chr1:9750240-9750390	SAEC	small airway:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
42	CTCF	chr1:9750300-9750450	HBMEC	blood vessel:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
43	CTCF	chr1:9750180-9750330	Caco-2	colon:	n/a	n/a
44	CTCF	chr1:9750266-9750303	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:9750260-9750410	HCM	heart:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
46	CTCF	chr1:9750168-9750475	A549	lung:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
47	CTCF	chr1:9750240-9750390	Caco-2	colon:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
48	CTCF	chr1:9750280-9750430	AG10803	skin:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
49	CTCF	chr1:9750297-9750381	Pancreas_OC	pancreas:	n/a	chr1:9750321-9750337 chr1:9750315-9750336 chr1:9750322-9750335 chr1:9750322-9750335 chr1:9750320-9750338
50	CTCF	chr1:9750040-9750190	AG04450	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9750061-9750111	SK-N-MC	brain:	n/a
2	chr1:9750061-9750111	AG09319	gingival:	n/a
3	chr1:9750213-9750263	HCPEpiC	choroid plexus:	n/a
4	chr1:9748971-9749021	Jurkat	blood:	n/a
5	chr1:9749717-9749767	HL-60	blood:	n/a
6	chr1:9750061-9750111	AoSMC	blood vessel:	n/a
7	chr1:9750813-9750863	GM06990	blood:	n/a
8	chr1:9750061-9750111	MCF-7	breast:	n/a
9	chr1:9750813-9750863	SKMC	muscle:	n/a
10	chr1:9750813-9750863	MCF-7	breast:	n/a
11	chr1:9749717-9749767	HRPEpiC	eye:	n/a
12	chr1:9750061-9750111	K562	blood:	n/a
13	chr1:9750213-9750263	HCM	heart:	n/a
14	chr1:9750213-9750263	AG04450	lung:	fetal
15	chr1:9749296-9749346	K562	blood:	n/a
16	chr1:9749296-9749346	GM12878	blood:	n/a
17	chr1:9750813-9750863	Jurkat	blood:	n/a
18	chr1:9749296-9749346	PrEC	prostate:	n/a
19	chr1:9750213-9750263	SK-N-MC	brain:	n/a
20	chr1:9750813-9750863	LNCaP	prostate:	n/a
21	chr1:9750213-9750263	GM12891	blood:	n/a
22	chr1:9749717-9749767	AG09309	skin:	n/a
23	chr1:9750061-9750111	SKMC	muscle:	n/a
24	chr1:9749717-9749767	NHBE	bronchial:	n/a
25	chr1:9750213-9750263	HL-60	blood:	n/a
26	chr1:9749717-9749767	SK-N-SH	brain:	n/a
27	chr1:9748971-9749021	NHDF-neo	bronchial:	n/a
28	chr1:9750813-9750863	U87	brain:	n/a
29	chr1:9750213-9750263	Jurkat	blood:	n/a
30	chr1:9750813-9750863	GM12892	blood:	n/a
31	chr1:9748971-9749021	U87	brain:	n/a
32	chr1:9750061-9750111	RPTEC	kidney:	n/a
33	chr1:9748971-9749021	HUVEC	blood vessel:	n/a
34	chr1:9749717-9749767	PrEC	prostate:	n/a
35	chr1:9750813-9750863	PFSK-1	brain:	n/a
36	chr1:9750813-9750863	GM12891	blood:	n/a
37	chr1:9750813-9750863	ProgFib	skin:	n/a
38	chr1:9749717-9749767	HAEpiC	amniotic membrane:	n/a
39	chr1:9750813-9750863	HRPEpiC	eye:	n/a
40	chr1:9750813-9750863	Hepatocyte	liver:	n/a
41	chr1:9749296-9749346	MCF10A-Er-Src	breast:	n/a
42	chr1:9748971-9749021	HRE	kidney:	n/a
43	chr1:9748971-9749021	HL-60	blood:	n/a
44	chr1:9749296-9749346	HMEC	breast:	n/a
45	chr1:9750061-9750111	NHDF-neo	bronchial:	n/a
46	chr1:9750813-9750863	K562	blood:	n/a
47	chr1:9750813-9750863	AG04449	skin:	fetal
48	chr1:9750213-9750263	HEK293	kidney:	embryo
49	chr1:9749717-9749767	H1-hESC	embryonic stem cell:	embryo
50	chr1:9749717-9749767	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:9746126..9748956-chr1:9749457..9751271,2	MCF-7	breast:
2	chr1:9692182..9693930-chr1:9748451..9750202,2	K562	blood:
3	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
4	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
5	chr1:9750156..9751724-chr7:23568721..23571687,2	K562	blood:
6	chr1:9712578..9717626-chr1:9745796..9749976,6	K562	blood:
7	chr1:9710199..9713089-chr1:9746772..9748545,3	MCF-7	breast:
8	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
9	chr1:9686883..9687545-chr1:9749890..9750740,2	MCF-7	breast:
10	chr1:9749593..9751802-chr1:9777886..9780307,2	K562	blood:
11	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:
12	chr1:9746655..9749475-chr1:9776621..9778385,2	K562	blood:
13	chr1:9713945..9716849-chr1:9747887..9749463,2	K562	blood:
14	chr1:9716271..9718491-chr1:9750491..9752827,2	K562	blood:

Variant related genes	Relation type
ENSG00000231789	TF binding region
ENSG00000231789	CpG island
ENSG00000171608	chromatin interactions
ENSG00000231789	chromatin interactions
ENSG00000179840	chromatin interactions
ENSG00000164548	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577954589	chr1:9748432-9748433	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs6669509	chr1:9748445-9748446	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs554014211	chr1:9748474-9748475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs574200822	chr1:9748486-9748487	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572406384	chr1:9748488-9748489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542770311	chr1:9748501-9748502	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs367964252	chr1:9748538-9748539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs543876633	chr1:9748586-9748587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs187292128	chr1:9748632-9748633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371838566	chr1:9748652-9748653	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs150856305	chr1:9748666-9748667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs192593837	chr1:9748709-9748710	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs184578136	chr1:9748759-9748760	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12032959	chr1:9748785-9748786	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs564867444	chr1:9748788-9748789	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs532100864	chr1:9748841-9748842	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs547437494	chr1:9748958-9748959	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188993642	chr1:9749012-9749013	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530026925	chr1:9749032-9749033	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs547910000	chr1:9749046-9749047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs114962053	chr1:9749090-9749091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536881802	chr1:9749096-9749097	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566214696	chr1:9749101-9749102	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs550213624	chr1:9749108-9749109	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs116625573	chr1:9749112-9749113	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs527500515	chr1:9749264-9749265	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs185822151	chr1:9749265-9749266	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572146514	chr1:9749295-9749296	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs536543685	chr1:9749320-9749321	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs554872938	chr1:9749385-9749386	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs61783039	chr1:9749435-9749436	Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576566724	chr1:9749452-9749453	Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs543673711	chr1:9749469-9749470	Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs534674659	chr1:9749526-9749527	Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs564965205	chr1:9749637-9749638	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576869289	chr1:9749742-9749743	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs9430648	chr1:9749935-9749936	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559382986	chr1:9749981-9749982	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529740972	chr1:9750084-9750085	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548486613	chr1:9750107-9750108	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563450135	chr1:9750169-9750170	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530703525	chr1:9750191-9750192	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs552087387	chr1:9750201-9750202	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs570663010	chr1:9750300-9750301	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs571671221	chr1:9750302-9750303	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs149985295	chr1:9750356-9750357	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs547529538	chr1:9750365-9750366	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs538180033	chr1:9750377-9750378	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs4240910	chr1:9750457-9750458	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs376370444	chr1:9750461-9750462	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9746800-9749400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:9746800-9750600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:9747000-9748400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:9747000-9748400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:9747000-9748400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:9747000-9748400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:9747000-9748400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr1:9747000-9748400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr1:9747000-9748400	Active TSS	A549	lung
10	chr1:9747000-9748600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr1:9747000-9749200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:9747000-9749200	Flanking Active TSS	NHEK	skin
13	chr1:9747000-9749400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:9747000-9749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:9747000-9749400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:9747000-9749400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:9747000-9749400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr1:9747000-9749400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:9747000-9749400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr1:9747000-9749400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:9747000-9749400	Flanking Active TSS	NH-A	brain
22	chr1:9747000-9750400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:9747000-9750400	Active TSS	HSMM	muscle
24	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:9747200-9748400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:9747200-9748400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr1:9747200-9748400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:9747200-9748400	Flanking Active TSS	Liver	Liver
29	chr1:9747200-9748400	Flanking Active TSS	Left Ventricle	heart
30	chr1:9747200-9748400	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:9747200-9748600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:9747200-9748600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr1:9747200-9748600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr1:9747200-9748600	Genic enhancers	Dnd41	blood
35	chr1:9747200-9748600	Flanking Active TSS	HUVEC	blood vessel
36	chr1:9747200-9749000	Enhancers	Spleen	Spleen
37	chr1:9747200-9749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:9747200-9749400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:9747200-9749400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:9747200-9749400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr1:9747200-9749400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:9747200-9749400	Flanking Active TSS	HMEC	breast
43	chr1:9747200-9750400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:9747200-9750400	Active TSS	Aorta	Aorta
45	chr1:9747200-9750600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:9747400-9748400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:9747400-9748600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr1:9747400-9748800	Enhancers	Fetal Heart	heart
49	chr1:9747400-9749200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:9747400-9750200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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