Variant report

Variant	esv3325653
Chromosome Location	chr3:52442937-52445885
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	chr3:52443993-52444042	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:52444585-52444849	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	chr3:52443754-52444219	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
6	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
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	chr3:52444551-52444760	K562	blood:	n/a	n/a
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	chr3:52443777-52444168	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
11	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
12	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
13	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
14	BHLHE40	chr3:52444493-52444867	K562	blood:	n/a	n/a
15	BHLHE40	chr3:52444528-52445452	GM12878	blood:	n/a	n/a
16	BHLHE40	chr3:52443936-52444165	GM12878	blood:	n/a	chr3:52444025-52444041
17	BHLHE40	chr3:52443953-52444143	K562	blood:	n/a	chr3:52444025-52444041
18	BHLHE40	chr3:52444466-52444854	HepG2	liver:	n/a	n/a
19	BRCA1	chr3:52443867-52444200	HepG2	liver:	n/a	n/a
20	BRCA1	chr3:52445093-52445112	GM12878	blood:	n/a	n/a
21	BRCA1	chr3:52444695-52444874	HepG2	liver:	n/a	n/a
22	BRCA1	chr3:52443828-52444226	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr3:52443888-52444211	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr3:52444564-52445361	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr3:52443922-52444205	GM12878	blood:	n/a	n/a
26	BRCA1	chr3:52444646-52444733	H1-hESC	embryonic stem cell:	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	chr3:52444681-52445255	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr3:52443394-52443481	GM12878	blood:	n/a	n/a
33	CHD1	chr3:52444599-52445276	GM12878	blood:	n/a	n/a
34	CHD2	chr3:52444025-52444126	K562	blood:	n/a	n/a
35	CHD2	chr3:52443972-52444153	HepG2	liver:	n/a	n/a
36	CHD2	chr3:52444525-52444847	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr3:52444518-52444901	GM12878	blood:	n/a	n/a
38	CHD2	chr3:52443975-52444159	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr3:52444592-52445353	K562	blood:	n/a	n/a
40	CHD2	chr3:52443889-52444206	GM12878	blood:	n/a	n/a
41	CHD2	chr3:52443721-52445113	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr3:52444606-52444892	HepG2	liver:	n/a	n/a
43	CREB1	chr3:52443521-52444316	A549	lung:	n/a	n/a
44	CREB1	chr3:52443714-52444318	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr3:52443496-52444942	HepG2	liver:	n/a	n/a
46	CREB1	chr3:52443910-52444174	A549	lung:	n/a	n/a
47	CREB1	chr3:52443660-52444835	K562	blood:	n/a	n/a
48	CREB1	chr3:52443537-52444867	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr3:52443391-52445114	HepG2	liver:	n/a	n/a
50	CREB1	chr3:52443769-52444207	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52444714-52444764	PrEC	prostate:	n/a
2	chr3:52444632-52444682	GM06990	blood:	n/a
3	chr3:52444714-52444764	PrEC	prostate:	n/a
4	chr3:52444632-52444682	GM06990	blood:	n/a
5	chr3:52443970-52444020	HCT-116	colon:	n/a
6	chr3:52443976-52444026	Hepatocyte	liver:	n/a
7	chr3:52444833-52444883	T-47D	breast:	n/a
8	chr3:52444833-52444883	MCF10A-Er-Src	breast:	n/a
9	chr3:52444710-52444760	PFSK-1	brain:	n/a
10	chr3:52445096-52445146	HPAEpiC	pulmonary alveolar:	n/a
11	chr3:52443424-52443474	NHDF-neo	bronchial:	n/a
12	chr3:52444059-52444109	K562	blood:	n/a
13	chr3:52444710-52444760	AG04449	skin:	fetal
14	chr3:52443702-52443752	HepG2	liver:	n/a
15	chr3:52445103-52445153	AG04450	lung:	fetal
16	chr3:52443702-52443752	NH-A	brain:	n/a
17	chr3:52444710-52444760	CMK	blood:	n/a
18	chr3:52444632-52444682	NHBE	bronchial:	n/a
19	chr3:52443970-52444020	HEEpiC	esophagus:	n/a
20	chr3:52445239-52445289	SAEC	small airway:	n/a
21	chr3:52444617-52444667	ECC-1	luminal epithelium:	n/a
22	chr3:52445226-52445276	HCF	heart:	n/a
23	chr3:52443970-52444020	HCF	heart:	n/a
24	chr3:52444632-52444682	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:52445096-52445146	NH-A	brain:	n/a
26	chr3:52444059-52444109	HRPEpiC	eye:	n/a
27	chr3:52445103-52445153	HIPEpiC	eye:	n/a
28	chr3:52444714-52444764	ProgFib	skin:	n/a
29	chr3:52444617-52444667	A549	lung:	n/a
30	chr3:52444710-52444760	HMEC	breast:	n/a
31	chr3:52445103-52445153	Hela-S3	cervix:	n/a
32	chr3:52443970-52444020	HAEpiC	amniotic membrane:	n/a
33	chr3:52445239-52445289	HIPEpiC	eye:	n/a
34	chr3:52444632-52444682	SKMC	muscle:	n/a
35	chr3:52444059-52444109	ECC-1	luminal epithelium:	n/a
36	chr3:52444710-52444760	HEK293	kidney:	embryo
37	chr3:52444765-52444815	K562	blood:	n/a
38	chr3:52443424-52443474	HAEpiC	amniotic membrane:	n/a
39	chr3:52445239-52445289	IMR90	lung:	fetal
40	chr3:52445239-52445289	GM19239	blood:	n/a
41	chr3:52444059-52444109	MCF10A-Er-Src	breast:	n/a
42	chr3:52445239-52445289	AG04449	skin:	fetal
43	chr3:52445239-52445289	HRPEpiC	eye:	n/a
44	chr3:52444714-52444764	ovcar-3	ovarian:	n/a
45	chr3:52443424-52443474	U87	brain:	n/a
46	chr3:52443976-52444026	AoSMC	blood vessel:	n/a
47	chr3:52444714-52444764	AG09309	skin:	n/a
48	chr3:52443970-52444020	HRCEpiC	kidney:	n/a
49	chr3:52445096-52445146	HAEpiC	amniotic membrane:	n/a
50	chr3:52443702-52443752	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52444497..52446102-chr3:52488760..52490756,2	K562	blood:
2	chr3:52442610..52445343-chr3:52803282..52805357,2	K562	blood:
3	chr3:52420801..52424667-chr3:52442297..52446214,5	K562	blood:
4	chr3:52443115..52446014-chr3:52718098..52719635,2	K562	blood:
5	chr3:52271478..52274801-chr3:52443057..52446273,4	K562	blood:
6	chr3:52444067..52446922-chr3:52566590..52568238,2	K562	blood:
7	chr3:52435154..52438907-chr3:52439834..52442973,4	MCF-7	breast:
8	chr3:52230839..52233318-chr3:52445063..52446669,2	MCF-7	breast:
9	chr3:52272619..52275147-chr3:52443057..52446254,5	K562	blood:
10	chr13:103425713..103426315-chr3:52444087..52445047,2	NB4	blood:
11	chr11:65627121..65628034-chr3:52443935..52444794,2	Hela-S3	cervix:
12	chr3:52324588..52327004-chr3:52442941..52444727,2	MCF-7	breast:
13	chr3:52441032..52443343-chr3:52444895..52446688,2	MCF-7	breast:
14	chr3:52441032..52443343-chr3:52444895..52446688,2	MCF-7	breast:
15	chr14:24583159..24583689-chr3:52444641..52445456,2	Hela-S3	cervix:
16	chr3:52445308..52446845-chr3:52482628..52484238,2	MCF-7	breast:
17	chr3:52445710..52451315-chr3:52451741..52455746,7	K562	blood:
18	chr3:52442891..52445847-chr3:52570573..52572369,2	K562	blood:
19	chr3:52311359..52313564-chr3:52443173..52445594,2	MCF-7	breast:
20	chr3:52015943..52018006-chr3:52443224..52445803,2	K562	blood:

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
ENSG00000168237	chromatin interactions
ENSG00000010322	chromatin interactions
ENSG00000114904	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000163939	chromatin interactions
ENSG00000243224	chromatin interactions
ENSG00000023330	chromatin interactions
ENSG00000100897	chromatin interactions
ENSG00000239732	chromatin interactions
ENSG00000151287	chromatin interactions
ENSG00000114841	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000168268	chromatin interactions
ENSG00000247596	chromatin interactions
ENSG00000168273	chromatin interactions
ENSG00000163930	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537688476	chr3:52442981-52442982	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs193091460	chr3:52442993-52442994	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs537549516	chr3:52443001-52443002	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs571066890	chr3:52443020-52443021	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs185692034	chr3:52443056-52443057	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs538594695	chr3:52443127-52443128	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs558291868	chr3:52443144-52443145	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs566545005	chr3:52443172-52443173	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs572035746	chr3:52443179-52443180	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52395000-52443200	Weak transcription	Right Atrium	heart
2	chr3:52435400-52443000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:52437400-52443000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:52438000-52443400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:52438200-52443200	Transcr. at gene 5' and 3'	NHEK	skin
6	chr3:52439600-52443200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:52440200-52443000	Weak transcription	Small Intestine	intestine
8	chr3:52440600-52443000	Genic enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:52440600-52443200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:52440800-52443000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:52441000-52443000	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr3:52441600-52443000	Weak transcription	A549	lung
13	chr3:52441800-52443000	Genic enhancers	Adipose Nuclei	Adipose
14	chr3:52441800-52443000	Weak transcription	Aorta	Aorta
15	chr3:52441800-52443000	Genic enhancers	Brain Angular Gyrus	brain
16	chr3:52441800-52443000	Genic enhancers	Placenta	Placenta
17	chr3:52441800-52443200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:52441800-52443200	Weak transcription	Ovary	ovary
19	chr3:52441800-52443600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:52442000-52443000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:52442000-52443000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:52442000-52443000	Genic enhancers	Primary T cells from cord blood	blood
23	chr3:52442000-52443000	Genic enhancers	Brain Inferior Temporal Lobe	brain
24	chr3:52442000-52443000	Enhancers	Fetal Heart	heart
25	chr3:52442000-52443000	Genic enhancers	Fetal Thymus	thymus
26	chr3:52442000-52443200	Genic enhancers	Spleen	Spleen
27	chr3:52442200-52443000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:52442200-52443000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:52442200-52443000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:52442200-52443000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:52442200-52443000	Enhancers	Liver	Liver
32	chr3:52442200-52443000	Genic enhancers	Fetal Kidney	kidney
33	chr3:52442200-52443000	Genic enhancers	Stomach Mucosa	stomach
34	chr3:52442200-52443200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:52442200-52443200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:52442200-52443200	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr3:52442200-52443200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:52442400-52443000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:52442400-52443000	Genic enhancers	Brain Substantia Nigra	brain
40	chr3:52442400-52443000	Enhancers	K562	blood
41	chr3:52442400-52443200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr3:52442400-52443400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:52442400-52443400	Genic enhancers	Lung	lung
44	chr3:52442400-52443800	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr3:52442400-52445200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr3:52442600-52443000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:52442600-52443000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
48	chr3:52442600-52443000	Enhancers	Primary B cells from cord blood	blood
49	chr3:52442600-52443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:52442600-52443000	Genic enhancers	Brain Cingulate Gyrus	brain

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