Variant report

Variant	nsv822893
Chromosome Location	chr4:187642198-187652700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1254)
CpG islands
(count:1651)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1254 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:187647095-187647297	K562	blood:	n/a	n/a
2	ARID3A	chr4:187649765-187650416	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:187646739-187648026	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:187644863-187645182	HepG2	liver:	n/a	n/a
5	ATF1	chr4:187648889-187649067	K562	blood:	n/a	n/a
6	ATF2	chr4:187647604-187648135	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:187647501-187648420	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr4:187647672-187648072	K562	blood:	n/a	chr4:187647896-187647906 chr4:187647898-187647906 chr4:187647899-187647906
9	ATF3	chr4:187647674-187648131	A549	lung:	n/a	chr4:187647896-187647906 chr4:187647898-187647906 chr4:187647899-187647906
10	ATF3	chr4:187647729-187648008	HepG2	liver:	n/a	chr4:187647896-187647906 chr4:187647898-187647906 chr4:187647899-187647906
11	BACH1	chr4:187647774-187648592	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:187644476-187645910	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:187646310-187647275	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr4:187647796-187647933	H1-hESC	embryonic stem cell:	n/a	chr4:187647828-187647841
15	BCL3	chr4:187647627-187648037	A549	lung:	n/a	chr4:187647828-187647841
16	BHLHE40	chr4:187647764-187647960	K562	blood:	n/a	chr4:187647826-187647842 chr4:187647825-187647841
17	BHLHE40	chr4:187644682-187645241	HepG2	liver:	n/a	chr4:187645099-187645115
18	BHLHE40	chr4:187645852-187645855	K562	blood:	n/a	n/a
19	BHLHE40	chr4:187644359-187645387	K562	blood:	n/a	chr4:187645099-187645115
20	BHLHE40	chr4:187647029-187647294	K562	blood:	n/a	n/a
21	BHLHE40	chr4:187647713-187648321	HepG2	liver:	n/a	chr4:187647826-187647842 chr4:187648032-187648048 chr4:187647969-187647985 chr4:187648024-187648040 chr4:187647825-187647841
22	BRCA1	chr4:187644900-187645100	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr4:187645601-187645748	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr4:187647043-187647264	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr4:187646945-187647573	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr4:187647807-187647917	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr4:187645027-187645264	HepG2	liver:	n/a	n/a
28	BRCA1	chr4:187647758-187648016	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr4:187644336-187644523	HepG2	liver:	n/a	n/a
30	BRCA1	chr4:187647801-187648265	HepG2	liver:	n/a	n/a
31	CBX3	chr4:187646561-187650600	HCT-116	colon:	n/a	n/a
32	CBX3	chr4:187647682-187647975	K562	blood:	n/a	n/a
33	CCNT2	chr4:187645583-187646001	K562	blood:	n/a	n/a
34	CCNT2	chr4:187647653-187648304	K562	blood:	n/a	chr4:187647886-187647895
35	CCNT2	chr4:187644412-187645297	K562	blood:	n/a	n/a
36	CEBPB	chr4:187647539-187648057	HepG2	liver:	n/a	n/a
37	CEBPB	chr4:187644377-187644515	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr4:187645011-187645472	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:187647770-187647979	K562	blood:	n/a	n/a
40	CEBPB	chr4:187649872-187650443	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr4:187647715-187647982	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr4:187647706-187648151	A549	lung:	n/a	n/a
43	CEBPB	chr4:187647669-187648042	IMR90	lung:	n/a	n/a
44	CEBPB	chr4:187645740-187645900	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr4:187648934-187650710	HCT-116	colon:	n/a	n/a
46	CEBPB	chr4:187647721-187648021	A549	lung:	n/a	n/a
47	CEBPB	chr4:187651846-187651868	K562	blood:	n/a	n/a
48	CEBPB	chr4:187647748-187647963	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:187644005-187644163	K562	blood:	n/a	n/a
50	CEBPB	chr4:187646577-187648139	Hela-S3	cervix:	n/a	n/a

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187645280-187645330	AG04449	skin:	fetal
2	chr4:187643243-187643293	GM12878	blood:	n/a
3	chr4:187648358-187648408	U87	brain:	n/a
4	chr4:187648358-187648408	NT2-D1	testis:	n/a
5	chr4:187645280-187645330	AG04449	skin:	fetal
6	chr4:187643243-187643293	GM12878	blood:	n/a
7	chr4:187648358-187648408	U87	brain:	n/a
8	chr4:187648358-187648408	NT2-D1	testis:	n/a
9	chr4:187646301-187646351	HRCEpiC	kidney:	n/a
10	chr4:187643243-187643293	GM19239	blood:	n/a
11	chr4:187646055-187646105	IMR90	lung:	fetal
12	chr4:187647402-187647452	HepG2	liver:	n/a
13	chr4:187645448-187645498	HepG2	liver:	n/a
14	chr4:187646730-187646780	HEEpiC	esophagus:	n/a
15	chr4:187644739-187644789	ProgFib	skin:	n/a
16	chr4:187646929-187646979	NHBE	bronchial:	n/a
17	chr4:187647402-187647452	RPTEC	kidney:	n/a
18	chr4:187645685-187645735	AG04449	skin:	fetal
19	chr4:187646301-187646351	NHBE	bronchial:	n/a
20	chr4:187647690-187647740	NT2-D1	testis:	n/a
21	chr4:187645280-187645330	Hela-S3	cervix:	n/a
22	chr4:187648358-187648408	LNCaP	prostate:	n/a
23	chr4:187650301-187650351	HUVEC	blood vessel:	n/a
24	chr4:187646929-187646979	BE2_C	brain:	n/a
25	chr4:187647048-187647098	HRPEpiC	eye:	n/a
26	chr4:187645280-187645330	HCT-116	colon:	n/a
27	chr4:187650301-187650351	PFSK-1	brain:	n/a
28	chr4:187645685-187645735	HAEpiC	amniotic membrane:	n/a
29	chr4:187647344-187647394	Jurkat	blood:	n/a
30	chr4:187647457-187647507	HL-60	blood:	n/a
31	chr4:187645120-187645170	AG04449	skin:	fetal
32	chr4:187648358-187648408	BE2_C	brain:	n/a
33	chr4:187650301-187650351	AG04449	skin:	fetal
34	chr4:187647402-187647452	PANC-1	pancreas:	n/a
35	chr4:187646301-187646351	HEK293	kidney:	embryo
36	chr4:187646396-187646446	PrEC	prostate:	n/a
37	chr4:187646730-187646780	HMEC	breast:	n/a
38	chr4:187646301-187646351	RPTEC	kidney:	n/a
39	chr4:187643243-187643293	H1-hESC	embryonic stem cell:	embryo
40	chr4:187647197-187647247	HCT-116	colon:	n/a
41	chr4:187647690-187647740	HL-60	blood:	n/a
42	chr4:187648252-187648302	MCF-7	breast:	n/a
43	chr4:187646929-187646979	AG09319	gingival:	n/a
44	chr4:187650301-187650351	NB4	blood:	n/a
45	chr4:187647048-187647098	HAEpiC	amniotic membrane:	n/a
46	chr4:187647344-187647394	RPTEC	kidney:	n/a
47	chr4:187647344-187647394	HRE	kidney:	n/a
48	chr4:187646730-187646780	LNCaP	prostate:	n/a
49	chr4:187648358-187648408	K562	blood:	n/a
50	chr4:187647402-187647452	H1-hESC	embryonic stem cell:	embryo

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65082224..65082738-chr4:187647444..187648140,2	HCT-116	colon:
2	chr4:187645367..187647070-chr4:188073656..188075512,2	K562	blood:
3	chr4:187651958..187654545-chr4:187671276..187673599,3	K562	blood:
4	chr4:187652128..187654537-chr4:187654823..187656879,2	MCF-7	breast:
5	chr4:187648033..187649855-chr4:187758632..187760466,2	MCF-7	breast:
6	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
7	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
8	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
9	chr4:187651874..187654017-chr4:187676972..187679507,2	K562	blood:
10	chr14:24909091..24910881-chr4:187644537..187646251,2	MCF-7	breast:
11	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:
12	chr4:187639395..187641125-chr4:187652205..187654706,2	K562	blood:
13	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
14	chr4:187641131..187642832-chr4:187644855..187646370,2	K562	blood:
15	chr11:61582742..61583406-chr4:187646760..187647639,2	Hela-S3	cervix:
16	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:
17	chr4:187647979..187649715-chr4:187674594..187677277,2	K562	blood:
18	chr4:187648173..187650328-chr4:187707410..187709180,2	MCF-7	breast:
19	chr4:187642627..187645169-chr4:187647943..187651570,4	MCF-7	breast:
20	chr19:36036241..36036989-chr4:187647559..187648083,2	HCT-116	colon:
21	chr4:187645100..187646784-chr4:187678473..187680254,2	K562	blood:
22	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
23	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
24	chr4:187641332..187643259-chr4:187644870..187646656,2	K562	blood:
25	chr4:187651958..187653758-chr4:187671404..187673599,2	K562	blood:

No data

Variant related genes	Relation type
FAT1	TF binding region
FAT1	CpG island
ENSG00000149485	chromatin interactions
ENSG00000105677	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000149798	chromatin interactions
ENSG00000236144	chromatin interactions
ENSG00000083857	chromatin interactions

Extended variants
information (count: 393 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573402998	chr4:187642225-187642226	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541976390	chr4:187642242-187642243	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574548660	chr4:187642250-187642251	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75278242	chr4:187642272-187642273	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527563796	chr4:187642284-187642285	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540958956	chr4:187642297-187642298	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs327104	chr4:187642387-187642388	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150322081	chr4:187642388-187642389	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138912593	chr4:187642389-187642390	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180864484	chr4:187642394-187642395	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs5865005	chr4:187642417-187642418	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs397879207	chr4:187642421-187642422	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531726255	chr4:187642456-187642457	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546016345	chr4:187642470-187642471	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73017543	chr4:187642481-187642482	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371465807	chr4:187642539-187642540	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12511117	chr4:187642541-187642542	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533050532	chr4:187642550-187642551	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528388161	chr4:187642562-187642563	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186146459	chr4:187642573-187642574	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545314355	chr4:187642582-187642583	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76772628	chr4:187642607-187642608	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571165880	chr4:187642609-187642610	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79956888	chr4:187642627-187642628	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555904725	chr4:187642644-187642645	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191052063	chr4:187642652-187642653	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541591329	chr4:187642664-187642665	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs327105	chr4:187642665-187642666	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571949352	chr4:187642674-187642675	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182399714	chr4:187642677-187642678	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563990231	chr4:187642726-187642727	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533067279	chr4:187642729-187642730	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6824430	chr4:187642798-187642799	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141760302	chr4:187642824-187642825	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529321801	chr4:187642939-187642940	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185548892	chr4:187642972-187642973	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548435275	chr4:187643020-187643021	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201078483	chr4:187643023-187643024	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568637167	chr4:187643030-187643031	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs327106	chr4:187643032-187643033	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190399414	chr4:187643065-187643066	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571127877	chr4:187643175-187643176	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552464555	chr4:187643182-187643183	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540160932	chr4:187643204-187643205	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs57956026	chr4:187643211-187643212	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569587091	chr4:187643259-187643260	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569047352	chr4:187643287-187643288	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs539635909	chr4:187643333-187643334	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs555217079	chr4:187643370-187643371	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs551998150	chr4:187643373-187643374	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:187635600-187643200	Weak transcription	Right Ventricle	heart
7	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:187637400-187643000	Weak transcription	Aorta	Aorta
9	chr4:187637600-187643400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
11	chr4:187639200-187642600	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:187639400-187643400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:187639600-187642600	Genic enhancers	NHEK	skin
14	chr4:187640400-187643200	Weak transcription	HSMM	muscle
15	chr4:187640600-187642400	ZNF genes & repeats	A549	lung
16	chr4:187641400-187642400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:187641400-187642600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:187641400-187642600	Weak transcription	Fetal Heart	heart
19	chr4:187641600-187642200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:187641600-187642200	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr4:187641600-187642200	Enhancers	NH-A	brain
22	chr4:187641600-187642400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:187641600-187642400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:187641600-187642400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:187641600-187643000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:187641800-187642600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:187641800-187642600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:187641800-187643000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:187641800-187643000	Enhancers	HepG2	liver
30	chr4:187641800-187643200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:187641800-187643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:187641800-187643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:187641800-187644000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:187642000-187642200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:187642000-187642200	Enhancers	Right Atrium	heart
36	chr4:187642000-187642400	Enhancers	HMEC	breast
37	chr4:187642000-187642600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:187642000-187642600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:187642000-187642600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:187642000-187643200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:187642000-187643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:187642000-187643200	Weak transcription	Fetal Lung	lung
43	chr4:187642000-187643200	Weak transcription	Osteobl	bone
44	chr4:187642000-187643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:187642000-187643400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:187642000-187643400	Weak transcription	Fetal Kidney	kidney
47	chr4:187642000-187644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:187642000-187644200	Weak transcription	Lung	lung
49	chr4:187642000-187646800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:187642200-187642600	Weak transcription	Fetal Intestine Small	intestine

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