Variant report

Variant	esv3354699
Chromosome Location	chr3:52443212-52445760
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	chr3:52444585-52444849	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:52443993-52444042	HepG2	liver:	n/a	n/a
3	ATF1	chr3:52443561-52444243	K562	blood:	n/a	n/a
4	ATF2	chr3:52444463-52444865	GM12878	blood:	n/a	n/a
5	ATF3	chr3:52443869-52444132	K562	blood:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
6	ATF3	chr3:52443754-52444219	K562	blood:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
7	ATF3	chr3:52443850-52444141	HepG2	liver:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
8	ATF3	chr3:52443807-52444137	H1-hESC	embryonic stem cell:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
9	ATF3	chr3:52443952-52444146	GM12878	blood:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
10	ATF3	chr3:52443785-52444156	HepG2	liver:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
11	ATF3	chr3:52444551-52444760	K562	blood:	n/a	n/a
12	ATF3	chr3:52443777-52444168	H1-hESC	embryonic stem cell:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
13	ATF3	chr3:52443815-52444148	GM12878	blood:	n/a	chr3:52444037-52444050 chr3:52444025-52444034 chr3:52444037-52444050 chr3:52444028-52444048 chr3:52444037-52444048 chr3:52444040-52444051 chr3:52444013-52444033 chr3:52444039-52444059
14	BHLHE40	chr3:52444493-52444867	K562	blood:	n/a	n/a
15	BHLHE40	chr3:52444528-52445452	GM12878	blood:	n/a	n/a
16	BHLHE40	chr3:52444466-52444854	HepG2	liver:	n/a	n/a
17	BHLHE40	chr3:52443936-52444165	GM12878	blood:	n/a	chr3:52444025-52444041
18	BHLHE40	chr3:52443953-52444143	K562	blood:	n/a	chr3:52444025-52444041
19	BRCA1	chr3:52445093-52445112	GM12878	blood:	n/a	n/a
20	BRCA1	chr3:52443828-52444226	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr3:52444695-52444874	HepG2	liver:	n/a	n/a
22	BRCA1	chr3:52444564-52445361	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr3:52444646-52444733	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr3:52443888-52444211	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr3:52443867-52444200	HepG2	liver:	n/a	n/a
26	BRCA1	chr3:52443922-52444205	GM12878	blood:	n/a	n/a
27	CBX3	chr3:52444415-52444806	K562	blood:	n/a	n/a
28	CCNT2	chr3:52443922-52444955	K562	blood:	n/a	n/a
29	CEBPB	chr3:52443928-52444103	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr3:52443805-52444885	HepG2	liver:	n/a	n/a
31	CHD1	chr3:52443394-52443481	GM12878	blood:	n/a	n/a
32	CHD1	chr3:52444681-52445255	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr3:52444599-52445276	GM12878	blood:	n/a	n/a
34	CHD2	chr3:52444525-52444847	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr3:52443975-52444159	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr3:52443889-52444206	GM12878	blood:	n/a	n/a
37	CHD2	chr3:52443972-52444153	HepG2	liver:	n/a	n/a
38	CHD2	chr3:52444606-52444892	HepG2	liver:	n/a	n/a
39	CHD2	chr3:52444025-52444126	K562	blood:	n/a	n/a
40	CHD2	chr3:52444592-52445353	K562	blood:	n/a	n/a
41	CHD2	chr3:52443721-52445113	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr3:52444518-52444901	GM12878	blood:	n/a	n/a
43	CREB1	chr3:52443685-52444897	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr3:52443521-52444316	A549	lung:	n/a	n/a
45	CREB1	chr3:52443512-52445409	GM12878	blood:	n/a	n/a
46	CREB1	chr3:52444378-52444894	A549	lung:	n/a	n/a
47	CREB1	chr3:52443391-52445114	HepG2	liver:	n/a	n/a
48	CREB1	chr3:52443714-52444318	ECC-1	luminal epithelium:	n/a	n/a
49	CREB1	chr3:52443537-52444867	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr3:52443660-52444835	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52445239-52445289	SK-N-SH	brain:	n/a
2	chr3:52445103-52445153	SKMC	muscle:	n/a
3	chr3:52445096-52445146	HL-60	blood:	n/a
4	chr3:52444833-52444883	GM12891	blood:	n/a
5	chr3:52445103-52445153	RPTEC	kidney:	n/a
6	chr3:52445103-52445153	Hela-S3	cervix:	n/a
7	chr3:52444714-52444764	HRE	kidney:	n/a
8	chr3:52444710-52444760	GM12878	blood:	n/a
9	chr3:52444710-52444760	K562	blood:	n/a
10	chr3:52444833-52444883	Hepatocyte	liver:	n/a
11	chr3:52444617-52444667	SK-N-SH_RA	brain:	n/a
12	chr3:52444833-52444883	U87	brain:	n/a
13	chr3:52444617-52444667	NB4	blood:	n/a
14	chr3:52443970-52444020	HRPEpiC	eye:	n/a
15	chr3:52443976-52444026	GM12878	blood:	n/a
16	chr3:52445103-52445153	U87	brain:	n/a
17	chr3:52445096-52445146	LNCaP	prostate:	n/a
18	chr3:52444765-52444815	HIPEpiC	eye:	n/a
19	chr3:52444632-52444682	ProgFib	skin:	n/a
20	chr3:52444059-52444109	NHBE	bronchial:	n/a
21	chr3:52444765-52444815	Jurkat	blood:	n/a
22	chr3:52444714-52444764	AG09309	skin:	n/a
23	chr3:52444765-52444815	NT2-D1	testis:	n/a
24	chr3:52444059-52444109	SKMC	muscle:	n/a
25	chr3:52443970-52444020	GM19239	blood:	n/a
26	chr3:52445096-52445146	HMEC	breast:	n/a
27	chr3:52444833-52444883	AoSMC	blood vessel:	n/a
28	chr3:52445096-52445146	AG09309	skin:	n/a
29	chr3:52443702-52443752	HMEC	breast:	n/a
30	chr3:52444617-52444667	AoSMC	blood vessel:	n/a
31	chr3:52443976-52444026	NHDF-neo	bronchial:	n/a
32	chr3:52444765-52444815	HCF	heart:	n/a
33	chr3:52443424-52443474	SKMC	muscle:	n/a
34	chr3:52444710-52444760	A549	lung:	n/a
35	chr3:52443424-52443474	H1-hESC	embryonic stem cell:	embryo
36	chr3:52444833-52444883	ovcar-3	ovarian:	n/a
37	chr3:52444710-52444760	AG09319	gingival:	n/a
38	chr3:52443976-52444026	NHBE	bronchial:	n/a
39	chr3:52445226-52445276	GM19239	blood:	n/a
40	chr3:52445239-52445289	HPAEpiC	pulmonary alveolar:	n/a
41	chr3:52445096-52445146	HRCEpiC	kidney:	n/a
42	chr3:52444632-52444682	HCT-116	colon:	n/a
43	chr3:52443702-52443752	T-47D	breast:	n/a
44	chr3:52443976-52444026	SK-N-SH	brain:	n/a
45	chr3:52444632-52444682	GM06990	blood:	n/a
46	chr3:52445239-52445289	GM12892	blood:	n/a
47	chr3:52444765-52444815	GM06990	blood:	n/a
48	chr3:52443424-52443474	Hepatocyte	liver:	n/a
49	chr3:52444632-52444682	NB4	blood:	n/a
50	chr3:52444765-52444815	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52443115..52446014-chr3:52718098..52719635,2	K562	blood:
2	chr3:52420801..52424667-chr3:52442297..52446214,5	K562	blood:
3	chr3:52442891..52445847-chr3:52570573..52572369,2	K562	blood:
4	chr3:52441032..52443343-chr3:52444895..52446688,2	MCF-7	breast:
5	chr14:24583159..24583689-chr3:52444641..52445456,2	Hela-S3	cervix:
6	chr3:52444497..52446102-chr3:52488760..52490756,2	K562	blood:
7	chr3:52445308..52446845-chr3:52482628..52484238,2	MCF-7	breast:
8	chr13:103425713..103426315-chr3:52444087..52445047,2	NB4	blood:
9	chr3:52015943..52018006-chr3:52443224..52445803,2	K562	blood:
10	chr3:52271478..52274801-chr3:52443057..52446273,4	K562	blood:
11	chr3:52272619..52275147-chr3:52443057..52446254,5	K562	blood:
12	chr3:52444067..52446922-chr3:52566590..52568238,2	K562	blood:
13	chr3:52441032..52443343-chr3:52444895..52446688,2	MCF-7	breast:
14	chr3:52230839..52233318-chr3:52445063..52446669,2	MCF-7	breast:
15	chr3:52311359..52313564-chr3:52443173..52445594,2	MCF-7	breast:
16	chr3:52445710..52451315-chr3:52451741..52455746,7	K562	blood:
17	chr3:52442610..52445343-chr3:52803282..52805357,2	K562	blood:
18	chr11:65627121..65628034-chr3:52443935..52444794,2	Hela-S3	cervix:
19	chr3:52324588..52327004-chr3:52442941..52444727,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH1-2	chr3:52445052-52445263	NONHSAT089922
2	lnc-DNAH1-2	chr3:52444906-52445355	NONHSAT089921

Variant related genes	Relation type
BAP1	TF binding region
PHF7	TF binding region
BAP1	CpG island
PHF7	CpG island
ENSG00000010322	chromatin interactions
ENSG00000247596	chromatin interactions
ENSG00000163939	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000151287	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000239732	chromatin interactions
ENSG00000100897	chromatin interactions
ENSG00000168273	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000243224	chromatin interactions
ENSG00000114841	chromatin interactions
ENSG00000114904	chromatin interactions
ENSG00000168237	chromatin interactions
ENSG00000023330	chromatin interactions
ENSG00000168268	chromatin interactions
ENSG00000163930	chromatin interactions
ENSG00000164091	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569715214	chr3:52443279-52443280	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs409803	chr3:52443280-52443281	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368116024	chr3:52443296-52443297	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs543218037	chr3:52443307-52443308	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs370440328	chr3:52443340-52443341	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs187490820	chr3:52443349-52443350	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs563559570	chr3:52443390-52443391	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs192763339	chr3:52443394-52443395	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs546104371	chr3:52443471-52443472	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs138119961	chr3:52443487-52443488	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs369945560	chr3:52443502-52443503	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs376810648	chr3:52443522-52443523	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs371580819	chr3:52443524-52443525	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs201395831	chr3:52443543-52443544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs183732845	chr3:52443544-52443545	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs202014344	chr3:52443548-52443549	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs372586694	chr3:52443571-52443572	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs374877961	chr3:52443590-52443591	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs397509413	chr3:52443613-52443614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs141802003	chr3:52443639-52443640	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs369915855	chr3:52443648-52443649	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs373389805	chr3:52443650-52443651	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs374877579	chr3:52443652-52443653	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs377477683	chr3:52443655-52443656	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs370637728	chr3:52443656-52443657	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs375406375	chr3:52443662-52443663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs112613161	chr3:52443667-52443668	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs369553214	chr3:52443682-52443683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs200974000	chr3:52443683-52443684	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs35383402	chr3:52443685-52443686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs648467	chr3:52443686-52443687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs35006997	chr3:52443689-52443690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs539725123	chr3:52443703-52443704	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs150505113	chr3:52443704-52443705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs367696718	chr3:52443706-52443707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs368322638	chr3:52443780-52443781	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs372533362	chr3:52443781-52443782	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs565532102	chr3:52443791-52443792	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs199750231	chr3:52443823-52443824	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs200628603	chr3:52443827-52443828	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs368881929	chr3:52443830-52443831	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs371197982	chr3:52443847-52443848	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs373910684	chr3:52443855-52443856	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs200018055	chr3:52443904-52443905	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs376976667	chr3:52443918-52443919	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs574205681	chr3:52443934-52443935	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs570601012	chr3:52443939-52443940	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs536817902	chr3:52444010-52444011	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs556853763	chr3:52444078-52444079	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs576999964	chr3:52444101-52444102	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52438000-52443400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:52441800-52443600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:52442400-52443400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:52442400-52443400	Genic enhancers	Lung	lung
5	chr3:52442400-52443800	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr3:52442400-52445200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr3:52442600-52443400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:52442600-52443600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:52442600-52443600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr3:52442600-52443600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:52442600-52443600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:52442600-52443600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr3:52442600-52443600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr3:52442600-52443600	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr3:52442600-52443600	Flanking Active TSS	Hela-S3	cervix
16	chr3:52442600-52443800	Flanking Active TSS	Fetal Brain Male	brain
17	chr3:52442600-52443800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
18	chr3:52442600-52445800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr3:52442800-52443400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:52442800-52443400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:52442800-52443400	Flanking Active TSS	GM12878-XiMat	blood
22	chr3:52442800-52443400	Flanking Active TSS	HepG2	liver
23	chr3:52442800-52443400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr3:52442800-52443400	Flanking Active TSS	NHLF	lung
25	chr3:52442800-52443600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:52442800-52443600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:52442800-52443600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr3:52442800-52443600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:52442800-52443600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52442800-52443600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr3:52442800-52443600	Flanking Active TSS	Left Ventricle	heart
32	chr3:52442800-52443600	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr3:52442800-52443600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr3:52442800-52443600	Flanking Active TSS	HSMMtube	muscle
35	chr3:52442800-52443600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr3:52442800-52443600	Flanking Active TSS	NH-A	brain
37	chr3:52442800-52443800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr3:52442800-52443800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr3:52442800-52443800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:52442800-52443800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:52442800-52443800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr3:52442800-52443800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr3:52442800-52445200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr3:52442800-52446400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr3:52443000-52443400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:52443000-52443400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:52443000-52443400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:52443000-52443400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr3:52443000-52443400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
50	chr3:52443000-52443400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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