Variant report

Variant	esv3440073
Chromosome Location	chr3:47618473-47621321
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	BACH1	chr3:47620597-47620716	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:47619950-47620053	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:47620527-47620723	K562	blood:	n/a	n/a
4	CCNT2	chr3:47619210-47620700	K562	blood:	n/a	n/a
5	CTCF	chr3:47619120-47619270	AG04449	skin:	n/a	n/a
6	CTCF	chr3:47620528-47620607	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:47620196-47620290	GM10248	blood:	n/a	n/a
8	CTCF	chr3:47620504-47620576	Spleen_OC	spleen:	n/a	n/a
9	E2F4	chr3:47619632-47619792	MCF10A-Er-Src	breast:	n/a	chr3:47619754-47619766
10	E2F6	chr3:47620176-47621093	H1-hESC	embryonic stem cell:	n/a	chr3:47620840-47620852 chr3:47620691-47620700
11	E2F6	chr3:47619063-47619667	A549	lung:	n/a	chr3:47619422-47619433 chr3:47619452-47619461 chr3:47619421-47619433
12	E2F6	chr3:47618931-47620011	H1-hESC	embryonic stem cell:	n/a	chr3:47619422-47619433 chr3:47619754-47619766 chr3:47619452-47619461 chr3:47619421-47619433
13	E2F6	chr3:47619243-47619495	K562	blood:	n/a	chr3:47619422-47619433 chr3:47619452-47619461 chr3:47619421-47619433
14	E2F6	chr3:47618951-47619994	A549	lung:	n/a	chr3:47619422-47619433 chr3:47619754-47619766 chr3:47619452-47619461 chr3:47619421-47619433
15	E2F6	chr3:47620121-47620664	K562	blood:	n/a	n/a
16	E2F6	chr3:47619818-47620014	K562	blood:	n/a	n/a
17	E2F6	chr3:47618987-47619899	H1-hESC	embryonic stem cell:	n/a	chr3:47619422-47619433 chr3:47619754-47619766 chr3:47619452-47619461 chr3:47619421-47619433
18	E2F6	chr3:47619097-47620896	K562	blood:	n/a	chr3:47619422-47619433 chr3:47619754-47619766 chr3:47620840-47620852 chr3:47620013-47620022 chr3:47620691-47620700 chr3:47619452-47619461 chr3:47619421-47619433
19	E2F6	chr3:47620077-47621134	H1-hESC	embryonic stem cell:	n/a	chr3:47620840-47620852 chr3:47620691-47620700
20	E2F6	chr3:47619045-47620805	K562	blood:	n/a	chr3:47619422-47619433 chr3:47619754-47619766 chr3:47620013-47620022 chr3:47620691-47620700 chr3:47619452-47619461 chr3:47619421-47619433
21	E2F6	chr3:47619572-47619786	K562	blood:	n/a	chr3:47619754-47619766
22	ELF1	chr3:47620344-47620690	K562	blood:	n/a	n/a
23	ETS1	chr3:47619807-47620167	K562	blood:	n/a	chr3:47620013-47620024
24	ETS1	chr3:47619827-47620286	K562	blood:	n/a	chr3:47620013-47620024
25	GATA2	chr3:47620726-47622149	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr3:47621316-47621644	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr3:47620854-47621116	SH-SY5Y	brain:	n/a	n/a
28	GTF2F1	chr3:47619259-47619283	H1-hESC	embryonic stem cell:	n/a	n/a
29	HMGN3	chr3:47618445-47618595	K562	blood:	n/a	n/a
30	HMGN3	chr3:47619227-47619650	K562	blood:	n/a	n/a
31	HMGN3	chr3:47619875-47620780	K562	blood:	n/a	n/a
32	IRF1	chr3:47619394-47620133	K562	blood:	n/a	chr3:47619772-47619786 chr3:47619435-47619449
33	MAX	chr3:47618998-47620180	K562	blood:	n/a	chr3:47619899-47619908
34	MAX	chr3:47620164-47620734	K562	blood:	n/a	chr3:47620675-47620684
35	MAX	chr3:47619236-47619541	A549	lung:	n/a	n/a
36	MAX	chr3:47619226-47619564	HepG2	liver:	n/a	n/a
37	MAX	chr3:47619181-47619800	K562	blood:	n/a	n/a
38	MAX	chr3:47620608-47620881	K562	blood:	n/a	chr3:47620675-47620684
39	MAX	chr3:47620277-47620302	HepG2	liver:	n/a	n/a
40	MAX	chr3:47620283-47621065	H1-hESC	embryonic stem cell:	n/a	chr3:47620675-47620684 chr3:47620880-47620890
41	MAX	chr3:47619008-47620188	HepG2	liver:	n/a	chr3:47619899-47619908
42	MAX	chr3:47619750-47621066	H1-hESC	embryonic stem cell:	n/a	chr3:47619899-47619908 chr3:47620675-47620684 chr3:47620880-47620890
43	MAX	chr3:47618939-47620006	ECC-1	luminal epithelium:	n/a	chr3:47619899-47619908
44	MAX	chr3:47618973-47621038	ECC-1	luminal epithelium:	n/a	chr3:47619899-47619908 chr3:47620675-47620684 chr3:47620880-47620890
45	MAX	chr3:47619051-47619632	SK-N-SH	brain:	n/a	n/a
46	MAX	chr3:47619239-47619811	K562	blood:	n/a	n/a
47	MAX	chr3:47619174-47619604	MCF-7	breast:	n/a	n/a
48	MAX	chr3:47619897-47620104	K562	blood:	n/a	chr3:47619899-47619908
49	MAX	chr3:47619001-47619684	A549	lung:	n/a	n/a
50	MAX	chr3:47618998-47619828	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47620448-47620498	H1-hESC	embryonic stem cell:	embryo
2	chr3:47619041-47619091	NHBE	bronchial:	n/a
3	chr3:47619041-47619091	AG04449	skin:	fetal
4	chr3:47620543-47620593	HRE	kidney:	n/a
5	chr3:47619964-47620014	NB4	blood:	n/a
6	chr3:47619113-47619163	Hepatocyte	liver:	n/a
7	chr3:47619113-47619163	AoSMC	blood vessel:	n/a
8	chr3:47620532-47620582	GM12892	blood:	n/a
9	chr3:47620545-47620595	Hepatocyte	liver:	n/a
10	chr3:47620532-47620582	T-47D	breast:	n/a
11	chr3:47620990-47621040	HCPEpiC	choroid plexus:	n/a
12	chr3:47620439-47620489	HCT-116	colon:	n/a
13	chr3:47619113-47619163	MCF10A-Er-Src	breast:	n/a
14	chr3:47620439-47620489	GM12891	blood:	n/a
15	chr3:47620545-47620595	U87	brain:	n/a
16	chr3:47620448-47620498	PrEC	prostate:	n/a
17	chr3:47621127-47621177	MCF-7	breast:	n/a
18	chr3:47620532-47620582	ECC-1	luminal epithelium:	n/a
19	chr3:47619113-47619163	HL-60	blood:	n/a
20	chr3:47620963-47621013	AoSMC	blood vessel:	n/a
21	chr3:47620545-47620595	HL-60	blood:	n/a
22	chr3:47620088-47620138	ProgFib	skin:	n/a
23	chr3:47620088-47620138	SKMC	muscle:	n/a
24	chr3:47620088-47620138	RPTEC	kidney:	n/a
25	chr3:47620543-47620593	AG04450	lung:	fetal
26	chr3:47620963-47621013	SAEC	small airway:	n/a
27	chr3:47620963-47621013	AG10803	skin:	n/a
28	chr3:47620532-47620582	GM12891	blood:	n/a
29	chr3:47620088-47620138	HCPEpiC	choroid plexus:	n/a
30	chr3:47620545-47620595	Hela-S3	cervix:	n/a
31	chr3:47621127-47621177	HUVEC	blood vessel:	n/a
32	chr3:47620963-47621013	NHBE	bronchial:	n/a
33	chr3:47620536-47620586	PFSK-1	brain:	n/a
34	chr3:47620536-47620586	HCPEpiC	choroid plexus:	n/a
35	chr3:47620088-47620138	MCF-7	breast:	n/a
36	chr3:47620545-47620595	PrEC	prostate:	n/a
37	chr3:47621019-47621069	HAEpiC	amniotic membrane:	n/a
38	chr3:47620990-47621040	SAEC	small airway:	n/a
39	chr3:47620963-47621013	AG09309	skin:	n/a
40	chr3:47621019-47621069	HNPCEpiC	eye:	n/a
41	chr3:47619041-47619091	HCM	heart:	n/a
42	chr3:47620990-47621040	IMR90	lung:	fetal
43	chr3:47621019-47621069	U87	brain:	n/a
44	chr3:47619964-47620014	GM12878	blood:	n/a
45	chr3:47620448-47620498	GM19239	blood:	n/a
46	chr3:47620448-47620498	GM12878	blood:	n/a
47	chr3:47619964-47620014	Hela-S3	cervix:	n/a
48	chr3:47621019-47621069	AG04449	skin:	fetal
49	chr3:47619041-47619091	AG10803	skin:	n/a
50	chr3:47620963-47621013	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47554795..47556707-chr3:47616257..47618627,2	K562	blood:
2	chr3:47554458..47556581-chr3:47617891..47619681,2	MCF-7	breast:
3	chr3:47617723..47621182-chr3:47821900..47825077,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCC1-1	chr3:47619177-47619418	NONHSAT089518

Variant related genes	Relation type
CSPG5	TF binding region
CSPG5	CpG island
ENSG00000173473	chromatin interactions
ENSG00000163832	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368948134	chr3:47618481-47618482	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147503336	chr3:47618485-47618486	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141635864	chr3:47618502-47618503	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373067610	chr3:47618505-47618506	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555156953	chr3:47618507-47618508	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142769230	chr3:47618516-47618517	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199594550	chr3:47618517-47618518	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376005436	chr3:47618529-47618530	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201571337	chr3:47618593-47618594	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147289456	chr3:47618601-47618602	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557218610	chr3:47618639-47618640	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143267577	chr3:47618672-47618673	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs61732079	chr3:47618825-47618826	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs377745484	chr3:47618855-47618856	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373659374	chr3:47618861-47618862	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201973334	chr3:47618880-47618881	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376832922	chr3:47618903-47618904	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs199702237	chr3:47618907-47618908	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139761370	chr3:47618921-47618922	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs3732530	chr3:47618953-47618954	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs35863063	chr3:47619025-47619026	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145083750	chr3:47619045-47619046	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201366683	chr3:47619109-47619110	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs144574217	chr3:47619138-47619139	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549444682	chr3:47619188-47619189	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs571293541	chr3:47619204-47619205	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs374688213	chr3:47619218-47619219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs200269902	chr3:47619314-47619315	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs368745564	chr3:47619325-47619326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs547331033	chr3:47619374-47619375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs565546480	chr3:47619408-47619409	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs113329262	chr3:47619423-47619424	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs536944663	chr3:47619432-47619433	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548931319	chr3:47619465-47619466	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570239186	chr3:47619573-47619574	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537611460	chr3:47619742-47619743	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558899284	chr3:47619785-47619786	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577225202	chr3:47619901-47619902	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534810931	chr3:47620011-47620012	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553328935	chr3:47620343-47620344	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112521008	chr3:47620362-47620363	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574533641	chr3:47620424-47620425	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575111700	chr3:47620447-47620448	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542497968	chr3:47620561-47620562	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540959397	chr3:47620786-47620787	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376481199	chr3:47620835-47620836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376638704	chr3:47620861-47620862	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559166174	chr3:47620932-47620933	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543571491	chr3:47620944-47620945	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139895146	chr3:47620990-47620991	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47615600-47618800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:47615800-47619000	Weak transcription	Left Ventricle	heart
3	chr3:47616000-47618600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:47616000-47619000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:47616600-47618800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:47616800-47619000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:47617600-47619200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:47617800-47618600	Genic enhancers	Fetal Brain Female	brain
9	chr3:47617800-47619200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:47618000-47619000	Weak transcription	K562	blood
11	chr3:47618200-47618800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:47618200-47619000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:47618200-47619000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:47618200-47619000	Enhancers	Brain Angular Gyrus	brain
15	chr3:47618200-47619000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:47618200-47619200	Enhancers	Gastric	stomach
17	chr3:47618400-47618600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:47618400-47618600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:47618400-47618600	Active TSS	Brain Cingulate Gyrus	brain
20	chr3:47618400-47618600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:47618400-47618800	Bivalent Enhancer	Placenta	Placenta
22	chr3:47618400-47619000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:47618400-47619000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr3:47618400-47619000	Bivalent Enhancer	Brain Hippocampus Middle	brain
25	chr3:47618400-47619000	Enhancers	Lung	lung
26	chr3:47618400-47619400	Enhancers	Fetal Brain Male	brain
27	chr3:47618400-47621000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:47618600-47618800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr3:47618600-47618800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:47618600-47619000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr3:47618600-47619000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:47618600-47619000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr3:47618600-47619200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:47618600-47619200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr3:47618600-47619200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr3:47618600-47619200	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr3:47618600-47619400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr3:47618600-47619400	Flanking Active TSS	Fetal Brain Female	brain
39	chr3:47618800-47619000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:47618800-47619000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:47618800-47619000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
42	chr3:47618800-47619000	Bivalent Enhancer	Primary B cells from cord blood	blood
43	chr3:47618800-47619000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr3:47618800-47619000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr3:47618800-47619000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr3:47618800-47619000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:47618800-47619000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr3:47618800-47619000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr3:47618800-47619000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:47618800-47619000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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