Variant report

Variant	esv3399692
Chromosome Location	chr1:241802554-241805102
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	chr1:241804647-241805695	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:241803591-241804098	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:241803551-241803704	K562	blood:	n/a	n/a
4	ARID3A	chr1:241801745-241802837	K562	blood:	n/a	n/a
5	ATF3	chr1:241803464-241803926	K562	blood:	n/a	chr1:241803839-241803848
6	ATF3	chr1:241804904-241805548	A549	lung:	n/a	n/a
7	BCL3	chr1:241803712-241804889	A549	lung:	n/a	n/a
8	BCL3	chr1:241804258-241805505	A549	lung:	n/a	n/a
9	BHLHE40	chr1:241803571-241803575	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:241803135-241804489	K562	blood:	n/a	n/a
11	BHLHE40	chr1:241802446-241802705	GM12878	blood:	n/a	n/a
12	BRCA1	chr1:241802036-241802883	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr1:241803330-241805639	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr1:241803487-241805006	K562	blood:	n/a	n/a
15	CBX3	chr1:241805065-241806293	K562	blood:	n/a	n/a
16	CBX3	chr1:241802972-241803470	K562	blood:	n/a	n/a
17	CBX3	chr1:241803735-241804578	K562	blood:	n/a	n/a
18	CCNT2	chr1:241802883-241804050	K562	blood:	n/a	chr1:241803839-241803848
19	CEBPB	chr1:241804396-241804789	MCF-7	breast:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
20	CEBPB	chr1:241804487-241804755	HepG2	liver:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
21	CEBPB	chr1:241804999-241805493	A549	lung:	n/a	n/a
22	CEBPB	chr1:241801909-241802659	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:241804399-241804733	H1-hESC	embryonic stem cell:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
24	CEBPB	chr1:241804436-241804898	HepG2	liver:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
25	CEBPB	chr1:241803962-241805473	A549	lung:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
26	CEBPB	chr1:241803232-241805865	Hela-S3	cervix:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
27	CEBPB	chr1:241804442-241804811	IMR90	lung:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
28	CEBPB	chr1:241804430-241804765	K562	blood:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
29	CEBPB	chr1:241804439-241804886	HepG2	liver:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
30	CEBPB	chr1:241804433-241804825	K562	blood:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
31	CEBPB	chr1:241804401-241804949	A549	lung:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
32	CEBPB	chr1:241804394-241804865	MCF-7	breast:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
33	CEBPB	chr1:241804186-241805603	A549	lung:	n/a	chr1:241804623-241804634 chr1:241804621-241804632 chr1:241804621-241804634 chr1:241804623-241804632
34	CEBPD	chr1:241803394-241803981	HepG2	liver:	n/a	n/a
35	CEBPD	chr1:241804507-241804776	HepG2	liver:	n/a	chr1:241804622-241804633
36	CEBPD	chr1:241803485-241803699	HepG2	liver:	n/a	n/a
37	CHD1	chr1:241803200-241803646	GM12878	blood:	n/a	n/a
38	CHD1	chr1:241803112-241804321	IMR90	lung:	n/a	chr1:241803837-241803847
39	CHD1	chr1:241803162-241803378	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr1:241802554-241802932	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr1:241803214-241804025	GM12878	blood:	n/a	chr1:241803837-241803847
42	CHD2	chr1:241804499-241804860	HepG2	liver:	n/a	n/a
43	CHD2	chr1:241803239-241804147	K562	blood:	n/a	chr1:241803837-241803847
44	CHD2	chr1:241803739-241804116	HepG2	liver:	n/a	chr1:241803837-241803847
45	CHD2	chr1:241803758-241804124	H1-hESC	embryonic stem cell:	n/a	chr1:241803837-241803847
46	CHD2	chr1:241803105-241805505	Hela-S3	cervix:	n/a	chr1:241803837-241803847
47	CREB1	chr1:241803426-241804159	K562	blood:	n/a	n/a
48	CREB1	chr1:241803568-241804081	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr1:241803431-241804004	A549	lung:	n/a	n/a
50	CREB1	chr1:241802910-241804233	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:241804421-241804471	HEK293	kidney:	embryo
2	chr1:241803298-241803348	HCM	heart:	n/a
3	chr1:241804128-241804178	NB4	blood:	n/a
4	chr1:241803298-241803348	NT2-D1	testis:	n/a
5	chr1:241803682-241803732	K562	blood:	n/a
6	chr1:241804036-241804086	BE2_C	brain:	n/a
7	chr1:241803680-241803730	GM06990	blood:	n/a
8	chr1:241804939-241804989	U87	brain:	n/a
9	chr1:241803367-241803417	HepG2	liver:	n/a
10	chr1:241803820-241803870	HCPEpiC	choroid plexus:	n/a
11	chr1:241803682-241803732	Caco-2	colon:	n/a
12	chr1:241804939-241804989	CMK	blood:	n/a
13	chr1:241802961-241803011	SK-N-SH	brain:	n/a
14	chr1:241803820-241803870	HIPEpiC	eye:	n/a
15	chr1:241803367-241803417	U87	brain:	n/a
16	chr1:241803111-241803161	GM06990	blood:	n/a
17	chr1:241802556-241802606	PrEC	prostate:	n/a
18	chr1:241804175-241804225	HAEpiC	amniotic membrane:	n/a
19	chr1:241804421-241804471	HRPEpiC	eye:	n/a
20	chr1:241804036-241804086	AG04449	skin:	fetal
21	chr1:241803680-241803730	PrEC	prostate:	n/a
22	chr1:241803111-241803161	Jurkat	blood:	n/a
23	chr1:241803298-241803348	HRE	kidney:	n/a
24	chr1:241803367-241803417	SK-N-SH_RA	brain:	n/a
25	chr1:241804939-241804989	HMEC	breast:	n/a
26	chr1:241803682-241803732	ECC-1	luminal epithelium:	n/a
27	chr1:241804421-241804471	AG04450	lung:	fetal
28	chr1:241803682-241803732	HNPCEpiC	eye:	n/a
29	chr1:241803367-241803417	RPTEC	kidney:	n/a
30	chr1:241802961-241803011	NHDF-neo	bronchial:	n/a
31	chr1:241804175-241804225	HEK293	kidney:	embryo
32	chr1:241802961-241803011	GM12892	blood:	n/a
33	chr1:241803111-241803161	SK-N-MC	brain:	n/a
34	chr1:241804036-241804086	SAEC	small airway:	n/a
35	chr1:241804128-241804178	IMR90	lung:	fetal
36	chr1:241804175-241804225	HL-60	blood:	n/a
37	chr1:241802556-241802606	MCF10A-Er-Src	breast:	n/a
38	chr1:241803111-241803161	HEEpiC	esophagus:	n/a
39	chr1:241803820-241803870	BJ	skin:	n/a
40	chr1:241803298-241803348	A549	lung:	n/a
41	chr1:241804128-241804178	SK-N-MC	brain:	n/a
42	chr1:241804939-241804989	HCF	heart:	n/a
43	chr1:241804421-241804471	AoSMC	blood vessel:	n/a
44	chr1:241803367-241803417	BJ	skin:	n/a
45	chr1:241804036-241804086	T-47D	breast:	n/a
46	chr1:241804128-241804178	HEK293	kidney:	embryo
47	chr1:241803298-241803348	HMEC	breast:	n/a
48	chr1:241804421-241804471	AG09309	skin:	n/a
49	chr1:241804175-241804225	PFSK-1	brain:	n/a
50	chr1:241802556-241802606	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:241803156..241803874-chr7:16685787..16686722,2	Hela-S3	cervix:
2	chr1:241797614..241799339-chr1:241801296..241804255,2	MCF-7	breast:
3	chr1:241801132..241803391-chr1:241936731..241938853,2	K562	blood:
4	chr1:241803184..241804086-chr16:50186534..50187290,2	HCT-116	colon:
5	chr1:241678718..241680701-chr1:241800665..241802574,2	K562	blood:
6	chr1:241803219..241803852-chr16:325251..325771,2	Hela-S3	cervix:
7	chr1:241799429..241802453-chr1:241804405..241808572,4	MCF-7	breast:
8	chr1:241800454..241803347-chr1:241897717..241900787,4	K562	blood:
9	chr1:241802310..241805173-chr1:241993132..241995327,2	K562	blood:
10	chr1:241803211..241803846-chr17:8338934..8339755,2	Hela-S3	cervix:
11	chr1:241796724..241805103-chr1:242008052..242013159,15	K562	blood:
12	chr1:241800780..241802686-chr1:241902251..241905024,2	MCF-7	breast:
13	chr1:241800110..241802719-chr1:241917456..241919841,2	K562	blood:
14	chr1:241799844..241805446-chr1:241909864..241915090,9	MCF-7	breast:
15	chr1:241802916..241803902-chr11:94800255..94801274,3	Hela-S3	cervix:
16	chr1:241800797..241802714-chr1:241839800..241842024,2	K562	blood:
17	chr1:241800601..241802586-chr1:241998069..242000945,2	MCF-7	breast:
18	chr1:241801200..241805205-chr1:241910998..241914529,7	MCF-7	breast:
19	chr1:241801684..241803300-chr1:241898807..241900331,2	K562	blood:
20	chr1:241801309..241803243-chr1:241980186..241981798,2	MCF-7	breast:
21	chr1:241804081..241806043-chr1:241997998..241999955,2	MCF-7	breast:
22	chr1:241802600..241803405-chr3:197024831..197025517,2	Hela-S3	cervix:
23	chr1:113498019..113498730-chr1:241802542..241803505,2	Hela-S3	cervix:
24	chr1:241802981..241803549-chr15:101419480..101420093,2	Hela-S3	cervix:
25	chr1:241801013..241803441-chr1:241985272..241988117,2	K562	blood:
26	chr1:241799658..241805161-chr1:242010004..242013743,14	K562	blood:
27	chr1:241693526..241696085-chr1:241801417..241805051,3	MCF-7	breast:
28	chr1:241803858..241804682-chr20:35723932..35724595,2	Hela-S3	cervix:
29	chr1:241800930..241803324-chr1:241824611..241827531,2	K562	blood:
30	chr1:241801957..241807032-chr1:241808533..241817679,11	K562	blood:
31	chr1:241803496..241804225-chr2:38978064..38978860,2	HCT-116	colon:
32	chr1:241800930..241802917-chr1:241824611..241827597,2	K562	blood:
33	chr1:35324929..35325577-chr1:241803103..241803897,2	Hela-S3	cervix:
34	chr1:241800887..241803348-chr1:241881120..241884579,4	K562	blood:
35	chr1:241804722..241806985-chr1:241808766..241812200,3	MCF-7	breast:

Variant related genes	Relation type
CHML	TF binding region
OPN3	TF binding region
CHML	CpG island
OPN3	CpG island
ENSG00000117009	chromatin interactions
ENSG00000203668	chromatin interactions
ENSG00000076344	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000227375	chromatin interactions
ENSG00000184254	chromatin interactions
ENSG00000229022	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000271885	chromatin interactions
ENSG00000136261	chromatin interactions
ENSG00000054277	chromatin interactions
ENSG00000163866	chromatin interactions
ENSG00000080839	chromatin interactions
ENSG00000174371	chromatin interactions
ENSG00000162843	chromatin interactions
ENSG00000075711	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000121274	chromatin interactions
ENSG00000269846	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183058301	chr1:241802563-241802564	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs561386972	chr1:241802574-241802575	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs187696802	chr1:241802575-241802576	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs201170446	chr1:241802599-241802600	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs540502606	chr1:241802601-241802602	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs75856222	chr1:241802614-241802615	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs554745901	chr1:241802667-241802668	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs202057066	chr1:241802669-241802670	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs532741974	chr1:241802684-241802685	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs552828836	chr1:241802702-241802703	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs569169770	chr1:241802767-241802768	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs530427879	chr1:241802848-241802849	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs369473338	chr1:241802867-241802868	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs373597900	chr1:241802873-241802874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs148923282	chr1:241802883-241802884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs145713560	chr1:241802909-241802910	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs536330824	chr1:241802920-241802921	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs552937799	chr1:241802921-241802922	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs34742206	chr1:241802933-241802934	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs576758270	chr1:241802941-241802942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs566648093	chr1:241802958-241802959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs374279072	chr1:241802959-241802960	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs538415461	chr1:241802968-241802969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs138284823	chr1:241802986-241802987	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs377573355	chr1:241803023-241803024	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs544630376	chr1:241803047-241803048	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs554985334	chr1:241803071-241803072	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs371072991	chr1:241803095-241803096	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs190991686	chr1:241803115-241803116	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs560564949	chr1:241803121-241803122	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs570648518	chr1:241803127-241803128	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs532753012	chr1:241803132-241803133	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs112198355	chr1:241803158-241803159	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs373057102	chr1:241803311-241803312	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs73139034	chr1:241803317-241803318	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149732403	chr1:241803328-241803329	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs142966339	chr1:241803332-241803333	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs148814726	chr1:241803343-241803344	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs137989013	chr1:241803370-241803371	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs145882594	chr1:241803384-241803385	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs201734451	chr1:241803405-241803406	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs567249722	chr1:241803410-241803411	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs376110575	chr1:241803414-241803415	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs141533532	chr1:241803422-241803423	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs546684038	chr1:241803443-241803444	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs367727299	chr1:241803446-241803447	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs566398765	chr1:241803472-241803473	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs538845600	chr1:241803498-241803499	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs558748776	chr1:241803504-241803505	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs569207033	chr1:241803580-241803581	Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Glioblastoma	18772890	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Brain overgrowth syndrome	24179207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241788200-241802800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:241788200-241802800	Weak transcription	Esophagus	oesophagus
3	chr1:241789200-241802800	Weak transcription	Pancreas	Pancrea
4	chr1:241799600-241804400	Active TSS	Brain Angular Gyrus	brain
5	chr1:241800400-241802800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:241800400-241804200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:241800600-241802600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:241800600-241802800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:241800600-241804000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:241800800-241802800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:241801000-241802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:241801000-241802800	Enhancers	Spleen	Spleen
13	chr1:241801200-241802800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:241801200-241802800	Weak transcription	Small Intestine	intestine
15	chr1:241801200-241802800	Flanking Active TSS	Dnd41	blood
16	chr1:241801200-241804000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:241801200-241804000	Active TSS	Placenta	Placenta
18	chr1:241801200-241804200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:241801200-241804200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:241801200-241804200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:241801200-241804200	Active TSS	Ovary	ovary
22	chr1:241801200-241804200	Active TSS	HSMM	muscle
23	chr1:241801400-241802600	Enhancers	Stomach Mucosa	stomach
24	chr1:241801400-241803000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:241801400-241804000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:241801400-241804000	Active TSS	Colonic Mucosa	Colon
27	chr1:241801400-241804000	Active TSS	HSMMtube	muscle
28	chr1:241801600-241804000	Active TSS	Fetal Muscle Leg	muscle
29	chr1:241801600-241804000	Active TSS	A549	lung
30	chr1:241801600-241804000	Active TSS	GM12878-XiMat	blood
31	chr1:241801600-241804000	Active TSS	NHLF	lung
32	chr1:241801800-241802600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:241801800-241803600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:241801800-241803800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:241801800-241803800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:241801800-241803800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:241801800-241803800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:241801800-241803800	Active TSS	Hela-S3	cervix
39	chr1:241801800-241804000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:241801800-241804000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:241801800-241804000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:241801800-241804000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:241801800-241804000	Active TSS	Fetal Intestine Large	intestine
44	chr1:241801800-241804000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr1:241801800-241804200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:241801800-241804200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:241801800-241804200	Active TSS	Aorta	Aorta
48	chr1:241802000-241802800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr1:241802000-241802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:241802000-241803600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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