Variant report

Variant	esv3369308
Chromosome Location	chr3:52279062-52280960
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	ATF2	chr3:52277941-52279552	GM12878	blood:	n/a	n/a
2	ATF2	chr3:52278011-52279283	GM12878	blood:	n/a	n/a
3	BACH1	chr3:52279457-52280156	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr3:52278845-52279274	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:52278790-52279124	GM12878	blood:	n/a	chr3:52279034-52279043
6	BCL11A	chr3:52278754-52279258	GM12878	blood:	n/a	chr3:52279034-52279043
7	BCLAF1	chr3:52277959-52279346	GM12878	blood:	n/a	chr3:52278231-52278240 chr3:52279034-52279043
8	BCLAF1	chr3:52278801-52279600	GM12878	blood:	n/a	chr3:52279034-52279043
9	BHLHE40	chr3:52279820-52280192	K562	blood:	n/a	chr3:52279883-52279899
10	BHLHE40	chr3:52278137-52280324	GM12878	blood:	n/a	chr3:52279883-52279899
11	BHLHE40	chr3:52279827-52280178	HepG2	liver:	n/a	chr3:52279883-52279899
12	BHLHE40	chr3:52279896-52280096	A549	lung:	n/a	n/a
13	BRCA1	chr3:52280602-52280605	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr3:52279107-52279162	GM12878	blood:	n/a	n/a
15	CCNT2	chr3:52279514-52280141	K562	blood:	n/a	chr3:52279685-52279694 chr3:52280077-52280086
16	CEBPB	chr3:52277837-52279367	GM12878	blood:	n/a	n/a
17	CEBPB	chr3:52280849-52281031	HepG2	liver:	n/a	n/a
18	CEBPB	chr3:52280841-52280989	K562	blood:	n/a	n/a
19	CEBPB	chr3:52280823-52280955	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr3:52279015-52279626	GM12878	blood:	n/a	n/a
21	CHD2	chr3:52279767-52280224	Hela-S3	cervix:	n/a	chr3:52279886-52279896
22	CHD2	chr3:52278846-52279620	GM12878	blood:	n/a	n/a
23	CHD2	chr3:52279494-52279613	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr3:52279929-52280297	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr3:52279710-52280062	A549	lung:	n/a	n/a
26	CTCF	chr3:52279820-52279970	SAEC	small airway:	n/a	chr3:52279821-52279834
27	CTCF	chr3:52280005-52280079	GM19239	blood:	n/a	n/a
28	CUX1	chr3:52278959-52279183	GM12878	blood:	n/a	n/a
29	E2F6	chr3:52279743-52280345	A549	lung:	n/a	chr3:52279827-52279837
30	E2F6	chr3:52279726-52280139	K562	blood:	n/a	chr3:52279827-52279837
31	E2F6	chr3:52279428-52280317	K562	blood:	n/a	chr3:52279449-52279459 chr3:52279827-52279837
32	E2F6	chr3:52279499-52280261	K562	blood:	n/a	chr3:52279827-52279837
33	E2F6	chr3:52279451-52280361	H1-hESC	embryonic stem cell:	n/a	chr3:52279827-52279837
34	E2F6	chr3:52279655-52280512	H1-hESC	embryonic stem cell:	n/a	chr3:52279827-52279837
35	EBF1	chr3:52277812-52280262	GM12878	blood:	n/a	n/a
36	EBF1	chr3:52278890-52279150	GM12878	blood:	n/a	n/a
37	EBF1	chr3:52278851-52279423	GM12878	blood:	n/a	n/a
38	EBF1	chr3:52279364-52279555	GM12878	blood:	n/a	n/a
39	ELF1	chr3:52279716-52279960	K562	blood:	n/a	chr3:52279864-52279877
40	ELF1	chr3:52277982-52280579	GM12878	blood:	n/a	chr3:52279864-52279877
41	ELF1	chr3:52279690-52279979	K562	blood:	n/a	chr3:52279864-52279877
42	ELF1	chr3:52279541-52280313	GM12878	blood:	n/a	chr3:52279864-52279877
43	ELK1	chr3:52279607-52279619	GM12878	blood:	n/a	n/a
44	ELK1	chr3:52278940-52279376	GM12878	blood:	n/a	n/a
45	ELK1	chr3:52279947-52280094	Hela-S3	cervix:	n/a	n/a
46	EP300	chr3:52278044-52279531	GM12878	blood:	n/a	chr3:52278473-52278487 chr3:52278231-52278240 chr3:52278901-52278914 chr3:52278242-52278255
47	EP300	chr3:52278120-52279180	GM12878	blood:	n/a	chr3:52278473-52278487 chr3:52278231-52278240 chr3:52278901-52278914 chr3:52278242-52278255
48	EP300	chr3:52280029-52280128	HepG2	liver:	n/a	n/a
49	EP300	chr3:52278350-52279233	GM12878	blood:	n/a	chr3:52278473-52278487 chr3:52278901-52278914
50	ESR1	chr3:52279991-52280456	T-47D	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52280329-52280379	RPTEC	kidney:	n/a
2	chr3:52280124-52280174	BE2_C	brain:	n/a
3	chr3:52279403-52279453	U87	brain:	n/a
4	chr3:52279700-52279750	AG09319	gingival:	n/a
5	chr3:52279902-52279952	NHBE	bronchial:	n/a
6	chr3:52280688-52280738	Caco-2	colon:	n/a
7	chr3:52280688-52280738	HNPCEpiC	eye:	n/a
8	chr3:52279403-52279453	A549	lung:	n/a
9	chr3:52279902-52279952	ProgFib	skin:	n/a
10	chr3:52280128-52280178	CMK	blood:	n/a
11	chr3:52280037-52280087	HIPEpiC	eye:	n/a
12	chr3:52280702-52280752	MCF-7	breast:	n/a
13	chr3:52279555-52279605	NT2-D1	testis:	n/a
14	chr3:52279555-52279605	Caco-2	colon:	n/a
15	chr3:52280702-52280752	NH-A	brain:	n/a
16	chr3:52280329-52280379	ProgFib	skin:	n/a
17	chr3:52279555-52279605	H1-hESC	embryonic stem cell:	embryo
18	chr3:52280124-52280174	PrEC	prostate:	n/a
19	chr3:52279555-52279605	NHBE	bronchial:	n/a
20	chr3:52280702-52280752	ProgFib	skin:	n/a
21	chr3:52279602-52279652	PFSK-1	brain:	n/a
22	chr3:52279902-52279952	HCM	heart:	n/a
23	chr3:52280124-52280174	SKMC	muscle:	n/a
24	chr3:52280124-52280174	NB4	blood:	n/a
25	chr3:52279625-52279675	LNCaP	prostate:	n/a
26	chr3:52280329-52280379	K562	blood:	n/a
27	chr3:52279902-52279952	SK-N-SH_RA	brain:	n/a
28	chr3:52280139-52280189	HepG2	liver:	n/a
29	chr3:52280037-52280087	SK-N-MC	brain:	n/a
30	chr3:52280139-52280189	HAEpiC	amniotic membrane:	n/a
31	chr3:52279602-52279652	PrEC	prostate:	n/a
32	chr3:52280329-52280379	H1-hESC	embryonic stem cell:	embryo
33	chr3:52279625-52279675	HEK293	kidney:	embryo
34	chr3:52280702-52280752	SK-N-MC	brain:	n/a
35	chr3:52280037-52280087	HCT-116	colon:	n/a
36	chr3:52280124-52280174	AG09309	skin:	n/a
37	chr3:52280128-52280178	HIPEpiC	eye:	n/a
38	chr3:52280702-52280752	BE2_C	brain:	n/a
39	chr3:52280702-52280752	GM12878	blood:	n/a
40	chr3:52279555-52279605	CMK	blood:	n/a
41	chr3:52280128-52280178	NHBE	bronchial:	n/a
42	chr3:52280128-52280178	SKMC	muscle:	n/a
43	chr3:52280139-52280189	AG09319	gingival:	n/a
44	chr3:52280329-52280379	HRPEpiC	eye:	n/a
45	chr3:52279403-52279453	HEK293	kidney:	embryo
46	chr3:52280329-52280379	U87	brain:	n/a
47	chr3:52280128-52280178	A549	lung:	n/a
48	chr3:52280128-52280178	MCF10A-Er-Src	breast:	n/a
49	chr3:52280124-52280174	HCPEpiC	choroid plexus:	n/a
50	chr3:52279625-52279675	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52278055..52281861-chr3:52310505..52315451,9	K562	blood:
2	chr3:52278070..52281652-chr3:52320199..52323338,4	MCF-7	breast:
3	chr11:62608645..62609618-chr3:52279287..52279787,2	Hela-S3	cervix:
4	chr3:52279829..52282973-chr3:52309699..52312689,5	MCF-7	breast:
5	chr3:52278407..52281355-chr3:52281666..52283628,3	MCF-7	breast:
6	chr3:52277680..52279387-chr3:52372909..52375320,2	K562	blood:
7	chr3:52278277..52281486-chr3:52282865..52288389,9	K562	blood:
8	chr3:52280316..52283002-chr3:52418190..52421140,2	K562	blood:
9	chr3:52278055..52281861-chr3:52310588..52314481,6	K562	blood:
10	chr3:52277093..52279461-chr3:52290667..52292256,2	MCF-7	breast:
11	chr3:52278312..52281288-chr3:52312020..52314246,3	MCF-7	breast:

Variant related genes	Relation type
PPM1M	TF binding region
PPM1M	CpG island
ENSG00000164088	chromatin interactions
ENSG00000168237	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000114841	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574525608	chr3:52279062-52279063	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs190477652	chr3:52279089-52279090	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs571209305	chr3:52279172-52279173	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs192593642	chr3:52279200-52279201	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs547444253	chr3:52279247-52279248	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs567256588	chr3:52279317-52279318	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs536402258	chr3:52279318-52279319	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs368937151	chr3:52279417-52279418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs529366829	chr3:52279446-52279447	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs556389318	chr3:52279468-52279469	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs547815973	chr3:52279553-52279554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs7618915	chr3:52279594-52279595	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
13	rs538919265	chr3:52279641-52279642	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs534129713	chr3:52279666-52279667	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs558605279	chr3:52279678-52279679	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs112091819	chr3:52279728-52279729	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs572377486	chr3:52279746-52279747	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs541081244	chr3:52279777-52279778	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs555006954	chr3:52279941-52279942	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs114645176	chr3:52279951-52279952	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
21	rs371262325	chr3:52280042-52280043	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs543558695	chr3:52280096-52280097	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs570671469	chr3:52280098-52280099	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs183582221	chr3:52280182-52280183	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs532604135	chr3:52280191-52280192	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs554055941	chr3:52280210-52280211	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs374173075	chr3:52280219-52280220	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs559820332	chr3:52280262-52280263	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs527247807	chr3:52280267-52280268	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs547078079	chr3:52280282-52280283	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs567297079	chr3:52280376-52280377	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs11715391	chr3:52280378-52280379	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs116291331	chr3:52280380-52280381	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs569843338	chr3:52280441-52280442	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs77194899	chr3:52280500-52280501	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs558781974	chr3:52280534-52280535	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs147076867	chr3:52280543-52280544	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs534970577	chr3:52280575-52280576	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs554663621	chr3:52280576-52280577	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs574533772	chr3:52280589-52280590	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs543497587	chr3:52280624-52280625	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs148142895	chr3:52280641-52280642	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs188269634	chr3:52280657-52280658	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs546099389	chr3:52280696-52280697	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs181199719	chr3:52280735-52280736	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs528775868	chr3:52280752-52280753	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs542549433	chr3:52280779-52280780	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs377310950	chr3:52280831-52280832	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs529741106	chr3:52280885-52280886	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs549873522	chr3:52280933-52280934	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	22522925	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52274400-52279400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:52274800-52279200	Weak transcription	Liver	Liver
3	chr3:52274800-52279200	Weak transcription	Pancreas	Pancrea
4	chr3:52274800-52279200	Weak transcription	Right Atrium	heart
5	chr3:52275000-52279200	Weak transcription	Stomach Mucosa	stomach
6	chr3:52275200-52279200	Weak transcription	HSMM	muscle
7	chr3:52275200-52279400	Weak transcription	Brain Angular Gyrus	brain
8	chr3:52277600-52279200	Enhancers	HUVEC	blood vessel
9	chr3:52277600-52279400	Enhancers	Lung	lung
10	chr3:52277600-52279600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:52277600-52279600	Enhancers	HMEC	breast
12	chr3:52277600-52282000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:52277800-52279200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:52277800-52279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:52277800-52279200	Enhancers	NH-A	brain
16	chr3:52278000-52279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:52278000-52279200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:52278000-52279200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:52278000-52279200	Enhancers	Esophagus	oesophagus
20	chr3:52278000-52279200	Enhancers	Right Ventricle	heart
21	chr3:52278000-52279200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr3:52278000-52279400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:52278000-52279600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:52278000-52279600	Flanking Active TSS	Hela-S3	cervix
25	chr3:52278200-52279200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:52278200-52279600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:52278400-52279400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:52278400-52280600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:52278600-52279200	Weak transcription	Left Ventricle	heart
30	chr3:52278600-52279200	Enhancers	NHEK	skin
31	chr3:52278600-52279600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr3:52278800-52279200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:52278800-52279600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:52278800-52279600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr3:52278800-52279600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:52278800-52279600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:52278800-52279600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr3:52278800-52279600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr3:52278800-52279600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr3:52278800-52279600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr3:52278800-52279600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:52278800-52279600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr3:52278800-52279600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr3:52278800-52279600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr3:52278800-52279600	Flanking Active TSS	GM12878-XiMat	blood
46	chr3:52278800-52280800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:52278800-52281400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr3:52279000-52279200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:52279000-52279200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:52279000-52279200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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