Variant report

Variant	esv3389739
Chromosome Location	chr3:52566962-52569135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:610)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:52567819-52568420	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr3:52567800-52568226	GM12878	blood:	n/a	n/a
3	BHLHE40	chr3:52566498-52566965	K562	blood:	n/a	n/a
4	BHLHE40	chr3:52568902-52569029	K562	blood:	n/a	n/a
5	BHLHE40	chr3:52567961-52568166	HepG2	liver:	n/a	n/a
6	BHLHE40	chr3:52567883-52568137	GM12878	blood:	n/a	n/a
7	BHLHE40	chr3:52568373-52568471	HepG2	liver:	n/a	n/a
8	CCNT2	chr3:52566580-52568816	K562	blood:	n/a	chr3:52566977-52566986 chr3:52567974-52567983 chr3:52567185-52567194 chr3:52567981-52567990
9	CEBPD	chr3:52567923-52568175	HepG2	liver:	n/a	n/a
10	CEBPD	chr3:52567697-52568161	HepG2	liver:	n/a	n/a
11	CHD1	chr3:52568030-52568179	GM12878	blood:	n/a	n/a
12	CHD1	chr3:52567392-52567726	GM12878	blood:	n/a	n/a
13	CHD2	chr3:52567987-52568178	HepG2	liver:	n/a	n/a
14	CHD2	chr3:52567981-52568162	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr3:52567828-52568191	K562	blood:	n/a	n/a
16	CHD2	chr3:52567073-52567075	HepG2	liver:	n/a	n/a
17	CHD2	chr3:52567513-52568198	GM12878	blood:	n/a	n/a
18	CHD2	chr3:52567189-52567202	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr3:52567348-52568163	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr3:52567776-52568113	A549	lung:	n/a	n/a
21	CREB1	chr3:52566388-52567054	HepG2	liver:	n/a	chr3:52566595-52566608
22	CREB1	chr3:52567301-52569320	HepG2	liver:	n/a	n/a
23	CTCF	chr3:52568040-52568058	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr3:52568020-52568170	GM12875	blood:	n/a	n/a
25	CTCF	chr3:52567926-52568157	A549	lung:	n/a	n/a
26	CTCF	chr3:52567920-52568070	K562	blood:	n/a	n/a
27	CTCF	chr3:52567910-52568156	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr3:52567978-52568122	Fibrobl	skin:	n/a	n/a
29	CTCF	chr3:52568009-52568040	LNCaP	prostate:	n/a	n/a
30	CTCF	chr3:52567960-52568110	AG04449	skin:	n/a	n/a
31	CTCF	chr3:52567966-52568119	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:52567971-52568101	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:52567960-52568110	GM12864	blood:	n/a	n/a
34	CTCF	chr3:52567896-52568177	K562	blood:	n/a	n/a
35	CTCF	chr3:52567960-52568110	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr3:52567960-52568110	GM12874	blood:	n/a	n/a
37	CTCF	chr3:52567912-52568160	GM19238	blood:	n/a	n/a
38	CTCF	chr3:52567940-52568090	AG04450	lung:	n/a	n/a
39	CTCF	chr3:52567980-52568130	GM12864	blood:	n/a	n/a
40	CTCF	chr3:52567940-52568090	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr3:52566900-52567050	GM12873	blood:	n/a	chr3:52566971-52566984 chr3:52566973-52566983 chr3:52566968-52566986
42	CTCF	chr3:52567945-52568119	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:52567973-52568157	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr3:52568900-52569050	HepG2	liver:	n/a	n/a
45	CTCF	chr3:52567900-52568050	HepG2	liver:	n/a	n/a
46	CTCF	chr3:52567993-52568059	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr3:52566840-52566990	K562	blood:	n/a	chr3:52566971-52566984 chr3:52566973-52566983 chr3:52566968-52566986
48	CTCF	chr3:52567980-52568130	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr3:52567920-52568070	GM12865	blood:	n/a	n/a
50	CTCF	chr3:52567960-52568110	WERI-Rb-1	eye:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52567633-52567683	HUVEC	blood vessel:	n/a
2	chr3:52569026-52569076	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:52568218-52568268	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:52569053-52569103	HRPEpiC	eye:	n/a
5	chr3:52568323-52568373	SK-N-SH	brain:	n/a
6	chr3:52569026-52569076	HRE	kidney:	n/a
7	chr3:52569026-52569076	Hela-S3	cervix:	n/a
8	chr3:52568218-52568268	K562	blood:	n/a
9	chr3:52567633-52567683	IMR90	lung:	fetal
10	chr3:52569053-52569103	BE2_C	brain:	n/a
11	chr3:52569026-52569076	HAEpiC	amniotic membrane:	n/a
12	chr3:52567130-52567180	PFSK-1	brain:	n/a
13	chr3:52567604-52567654	HCPEpiC	choroid plexus:	n/a
14	chr3:52568218-52568268	Hepatocyte	liver:	n/a
15	chr3:52567604-52567654	MCF-7	breast:	n/a
16	chr3:52569097-52569147	NT2-D1	testis:	n/a
17	chr3:52567510-52567560	A549	lung:	n/a
18	chr3:52567010-52567060	BJ	skin:	n/a
19	chr3:52569097-52569147	GM12878	blood:	n/a
20	chr3:52569053-52569103	HCT-116	colon:	n/a
21	chr3:52568323-52568373	AoSMC	blood vessel:	n/a
22	chr3:52567510-52567560	SAEC	small airway:	n/a
23	chr3:52567130-52567180	PANC-1	pancreas:	n/a
24	chr3:52567130-52567180	GM19239	blood:	n/a
25	chr3:52567633-52567683	BE2_C	brain:	n/a
26	chr3:52567633-52567683	ProgFib	skin:	n/a
27	chr3:52567010-52567060	Jurkat	blood:	n/a
28	chr3:52568218-52568268	SKMC	muscle:	n/a
29	chr3:52567130-52567180	Hela-S3	cervix:	n/a
30	chr3:52568323-52568373	HCM	heart:	n/a
31	chr3:52567510-52567560	NH-A	brain:	n/a
32	chr3:52568323-52568373	GM12878	blood:	n/a
33	chr3:52568323-52568373	NHDF-neo	bronchial:	n/a
34	chr3:52568323-52568373	U87	brain:	n/a
35	chr3:52569053-52569103	HL-60	blood:	n/a
36	chr3:52567604-52567654	AG10803	skin:	n/a
37	chr3:52567130-52567180	AoSMC	blood vessel:	n/a
38	chr3:52568323-52568373	K562	blood:	n/a
39	chr3:52567130-52567180	SAEC	small airway:	n/a
40	chr3:52567510-52567560	HepG2	liver:	n/a
41	chr3:52568323-52568373	ECC-1	luminal epithelium:	n/a
42	chr3:52569053-52569103	ECC-1	luminal epithelium:	n/a
43	chr3:52567130-52567180	HMEC	breast:	n/a
44	chr3:52568218-52568268	SK-N-MC	brain:	n/a
45	chr3:52569097-52569147	Hela-S3	cervix:	n/a
46	chr3:52567130-52567180	IMR90	lung:	fetal
47	chr3:52567130-52567180	HRCEpiC	kidney:	n/a
48	chr3:52569097-52569147	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:52567633-52567683	AG04449	skin:	fetal
50	chr3:52567604-52567654	HCF	heart:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52567106..52571736-chr3:52712759..52716604,4	K562	blood:
2	chr3:52567230..52568070-chr9:131218351..131218852,2	Hela-S3	cervix:
3	chr3:52527250..52529955-chr3:52567199..52569414,2	MCF-7	breast:
4	chr3:52488081..52492441-chr3:52568649..52570860,4	K562	blood:
5	chr3:52504515..52506973-chr3:52565446..52568302,2	MCF-7	breast:
6	chr3:52551484..52554158-chr3:52567066..52569157,2	MCF-7	breast:
7	chr3:52567128..52569011-chr3:52738941..52741649,3	K562	blood:
8	chr3:52554843..52559532-chr3:52566910..52570402,7	MCF-7	breast:
9	chr3:52567015..52567802-chr3:186500888..186501659,2	Hela-S3	cervix:
10	chr15:65596638..65597519-chr3:52567379..52568024,2	HCT-116	colon:
11	chr3:52487897..52490713-chr3:52565636..52568320,3	K562	blood:
12	chr3:52567315..52569798-chr3:52739141..52741499,3	MCF-7	breast:
13	chr22:47133970..47134516-chr3:52567792..52568293,2	HCT-116	colon:
14	chr3:52568115..52572187-chr3:52717267..52721555,8	K562	blood:
15	chr3:52566406..52569677-chr3:52718507..52721358,5	MCF-7	breast:
16	chr3:52566165..52568026-chr3:52648479..52651083,2	K562	blood:
17	chr3:52444067..52446922-chr3:52566590..52568238,2	K562	blood:
18	chr3:52503525..52506168-chr3:52566167..52568849,2	MCF-7	breast:
19	chr3:52567779..52572340-chr3:52718708..52722750,6	K562	blood:
20	chr3:52311763..52314254-chr3:52566006..52568592,3	K562	blood:
21	chr3:52567553..52570571-chr3:52718365..52721514,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf78-1	chr3:52568819-52568924	NONHSAT089937
2	lnc-C3orf78-1	chr3:52568052-52568164	NONHSAT089937

No data

Variant related genes	Relation type
NT5DC2	TF binding region
SMIM4	TF binding region
NT5DC2	CpG island
SMIM4	CpG island
ENSG00000114902	chromatin interactions
ENSG00000010327	chromatin interactions
ENSG00000163938	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000163930	chromatin interactions
ENSG00000016864	chromatin interactions
ENSG00000168268	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000114854	chromatin interactions
ENSG00000010318	chromatin interactions
ENSG00000163939	chromatin interactions
ENSG00000136811	chromatin interactions
ENSG00000010322	chromatin interactions
ENSG00000100422	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558884729	chr3:52566987-52566988	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs537958530	chr3:52567006-52567007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs552693740	chr3:52567007-52567008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs12489828	chr3:52567014-52567015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561519994	chr3:52567018-52567019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs530441223	chr3:52567036-52567037	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs75586899	chr3:52567077-52567078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs562957765	chr3:52567124-52567125	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs562537327	chr3:52567145-52567146	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs530393164	chr3:52567156-52567157	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs28661185	chr3:52567188-52567189	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs571342308	chr3:52567216-52567217	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs527441779	chr3:52567260-52567261	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs112873973	chr3:52567295-52567296	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs567191333	chr3:52567367-52567368	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs536177157	chr3:52567391-52567392	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs556119574	chr3:52567461-52567462	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs183059955	chr3:52567463-52567464	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs66782572	chr3:52567617-52567618	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs376765486	chr3:52567630-52567631	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs558970437	chr3:52567646-52567647	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs112562394	chr3:52567779-52567780	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs558765554	chr3:52567793-52567794	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs192855409	chr3:52567794-52567795	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	mRNA abundance
25	rs183793563	chr3:52567819-52567820	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs541612392	chr3:52567968-52567969	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs28380177	chr3:52567998-52567999	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs28396446	chr3:52568005-52568006	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs555216056	chr3:52568026-52568027	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs575168334	chr3:52568030-52568031	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs369120098	chr3:52568042-52568043	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs112769777	chr3:52568049-52568050	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs544153571	chr3:52568120-52568121	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
34	rs114786994	chr3:52568126-52568127	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
35	rs531378385	chr3:52568149-52568150	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
36	rs6445527	chr3:52568216-52568217	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs7628665	chr3:52568225-52568226	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs544686831	chr3:52568276-52568277	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs564947048	chr3:52568336-52568337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs187869041	chr3:52568348-52568349	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs113975438	chr3:52568405-52568406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs547175599	chr3:52568410-52568411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs369219674	chr3:52568500-52568501	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs143685847	chr3:52568534-52568535	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs547210048	chr3:52568536-52568537	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs201170763	chr3:52568544-52568545	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs529936015	chr3:52568557-52568558	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs200182123	chr3:52568562-52568563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs34905363	chr3:52568565-52568566	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs149178183	chr3:52568571-52568572	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52554800-52567200	Weak transcription	Aorta	Aorta
2	chr3:52558400-52567000	Weak transcription	Small Intestine	intestine
3	chr3:52564000-52567200	Enhancers	Spleen	Spleen
4	chr3:52565800-52567000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:52565800-52567000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:52565800-52567000	Flanking Active TSS	Fetal Brain Female	brain
7	chr3:52565800-52567000	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:52565800-52567200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr3:52566000-52567000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:52566000-52567000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:52566000-52567000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:52566000-52567000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:52566000-52567000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:52566000-52567000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr3:52566000-52567000	Flanking Active TSS	HUVEC	blood vessel
16	chr3:52566000-52567000	Flanking Active TSS	Osteobl	bone
17	chr3:52566000-52567200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr3:52566000-52567200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr3:52566000-52567200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr3:52566000-52567200	Enhancers	Stomach Mucosa	stomach
21	chr3:52566200-52567000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:52566200-52567000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:52566200-52567000	Flanking Active TSS	Fetal Lung	lung
24	chr3:52566200-52567000	Flanking Active TSS	Hela-S3	cervix
25	chr3:52566200-52567000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr3:52566200-52567200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:52566200-52567200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr3:52566200-52567200	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr3:52566200-52567200	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr3:52566200-52567600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr3:52566200-52569000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:52566200-52571600	Active TSS	Fetal Kidney	kidney
33	chr3:52566400-52567000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr3:52566400-52567000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:52566400-52567000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:52566400-52567000	Enhancers	Primary B cells from cord blood	blood
37	chr3:52566400-52567000	Enhancers	Primary T cells from cord blood	blood
38	chr3:52566400-52567000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:52566400-52567200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:52566400-52567200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr3:52566400-52567200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:52566400-52567200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:52566400-52567200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr3:52566400-52568600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:52566400-52568600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:52566400-52569000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr3:52566600-52567000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:52566600-52567000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:52566600-52567000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr3:52566600-52567000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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