Variant report

Variant	esv3524209
Chromosome Location	chr4:10457904-10460002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:10459741-10459919	K562	blood:	n/a	n/a
2	BACH1	chr4:10458630-10459108	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr4:10458017-10458645	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:10459217-10460106	K562	blood:	n/a	n/a
5	BHLHE40	chr4:10458951-10459247	GM12878	blood:	n/a	chr4:10459125-10459141
6	CBX3	chr4:10458207-10458558	K562	blood:	n/a	n/a
7	CBX3	chr4:10459827-10460193	K562	blood:	n/a	n/a
8	CCNT2	chr4:10458055-10459262	K562	blood:	n/a	chr4:10458645-10458654 chr4:10458501-10458510 chr4:10458704-10458713
9	CCNT2	chr4:10459488-10460006	K562	blood:	n/a	chr4:10459969-10459978
10	CHD1	chr4:10458305-10458582	GM12878	blood:	n/a	chr4:10458502-10458512
11	CHD1	chr4:10458182-10458487	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr4:10459845-10459931	K562	blood:	n/a	n/a
13	CHD2	chr4:10458313-10458518	H1-hESC	embryonic stem cell:	n/a	chr4:10458502-10458512
14	CHD2	chr4:10458975-10459466	GM12878	blood:	n/a	n/a
15	CHD2	chr4:10458270-10458572	K562	blood:	n/a	chr4:10458502-10458512
16	CHD2	chr4:10458042-10458733	GM12878	blood:	n/a	chr4:10458502-10458512 chr4:10458125-10458135
17	CREB1	chr4:10458194-10458641	A549	lung:	n/a	n/a
18	CREB1	chr4:10458065-10458644	GM12878	blood:	n/a	n/a
19	CREB1	chr4:10458116-10458662	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr4:10458845-10459076	A549	lung:	n/a	n/a
21	CTCF	chr4:10459807-10460063	K562	blood:	n/a	chr4:10459874-10459883
22	CTCF	chr4:10459126-10459134	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr4:10458340-10458490	AG04449	skin:	n/a	n/a
24	CTCF	chr4:10459856-10459910	NHEK	skin:	n/a	chr4:10459874-10459883
25	CTCF	chr4:10459140-10459290	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr4:10458980-10459121	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr4:10458380-10458530	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr4:10458360-10458510	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr4:10459840-10459990	GM12867	blood:	n/a	chr4:10459874-10459883
30	CTCF	chr4:10459880-10460030	K562	blood:	n/a	n/a
31	CTCF	chr4:10459820-10459970	HUVEC	blood vessel:	n/a	chr4:10459874-10459883
32	CTCF	chr4:10459760-10459910	AG04449	skin:	n/a	chr4:10459874-10459883
33	CTCF	chr4:10459820-10459970	NHEK	skin:	n/a	chr4:10459874-10459883
34	CTCFL	chr4:10459946-10460071	K562	blood:	n/a	n/a
35	E2F6	chr4:10458677-10459161	K562	blood:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10459062-10459071 chr4:10459129-10459138 chr4:10458680-10458691
36	E2F6	chr4:10457968-10458670	H1-hESC	embryonic stem cell:	n/a	chr4:10458501-10458513 chr4:10458501-10458510 chr4:10458090-10458099
37	E2F6	chr4:10458048-10459180	H1-hESC	embryonic stem cell:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10458501-10458513 chr4:10458501-10458510 chr4:10459062-10459071 chr4:10458090-10458099 chr4:10459129-10459138 chr4:10458680-10458691
38	E2F6	chr4:10458047-10460188	K562	blood:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10459969-10459978 chr4:10458501-10458513 chr4:10459963-10459972 chr4:10458501-10458510 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10458090-10458099 chr4:10459129-10459138 chr4:10458680-10458691
39	E2F6	chr4:10458076-10458583	A549	lung:	n/a	chr4:10458501-10458513 chr4:10458501-10458510 chr4:10458090-10458099
40	E2F6	chr4:10459880-10460162	K562	blood:	n/a	chr4:10459969-10459978 chr4:10459963-10459972
41	E2F6	chr4:10458638-10459406	A549	lung:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10459129-10459138 chr4:10458680-10458691
42	E2F6	chr4:10458327-10458569	A549	lung:	n/a	chr4:10458501-10458513 chr4:10458501-10458510
43	E2F6	chr4:10458850-10459519	H1-hESC	embryonic stem cell:	n/a	chr4:10459082-10459091 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10459129-10459138
44	E2F6	chr4:10458136-10459409	K562	blood:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10458501-10458513 chr4:10458501-10458510 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10459129-10459138 chr4:10458680-10458691
45	EBF1	chr4:10458387-10458568	GM12878	blood:	n/a	n/a
46	EBF1	chr4:10458299-10459156	GM12878	blood:	n/a	n/a
47	EGR1	chr4:10458974-10459269	K562	blood:	n/a	chr4:10459062-10459071 chr4:10459130-10459143 chr4:10459130-10459140 chr4:10459130-10459143 chr4:10459131-10459140 chr4:10459127-10459141 chr4:10459130-10459143
48	EGR1	chr4:10458411-10458700	K562	blood:	n/a	chr4:10458560-10458569 chr4:10458443-10458452 chr4:10458514-10458524 chr4:10458559-10458572 chr4:10458556-10458570
49	EGR1	chr4:10458446-10458676	GM12878	blood:	n/a	chr4:10458560-10458569 chr4:10458514-10458524 chr4:10458559-10458572 chr4:10458556-10458570
50	EGR1	chr4:10458901-10459286	K562	blood:	n/a	chr4:10459062-10459071 chr4:10459130-10459143 chr4:10459130-10459140 chr4:10459130-10459143 chr4:10459131-10459140 chr4:10459127-10459141 chr4:10459130-10459143

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10458049-10458099	GM12891	blood:	n/a
2	chr4:10459183-10459233	SK-N-SH_RA	brain:	n/a
3	chr4:10458049-10458099	H1-hESC	embryonic stem cell:	embryo
4	chr4:10459435-10459485	BE2_C	brain:	n/a
5	chr4:10458049-10458099	GM12891	blood:	n/a
6	chr4:10459183-10459233	SK-N-SH_RA	brain:	n/a
7	chr4:10458049-10458099	H1-hESC	embryonic stem cell:	embryo
8	chr4:10459435-10459485	BE2_C	brain:	n/a
9	chr4:10458454-10458504	ProgFib	skin:	n/a
10	chr4:10459141-10459191	Hepatocyte	liver:	n/a
11	chr4:10459929-10459979	GM12892	blood:	n/a
12	chr4:10459228-10459278	SK-N-MC	brain:	n/a
13	chr4:10459228-10459278	HCF	heart:	n/a
14	chr4:10459435-10459485	SKMC	muscle:	n/a
15	chr4:10458918-10458968	HRPEpiC	eye:	n/a
16	chr4:10458454-10458504	K562	blood:	n/a
17	chr4:10459132-10459182	AG04450	lung:	fetal
18	chr4:10459141-10459191	HRPEpiC	eye:	n/a
19	chr4:10459836-10459886	LNCaP	prostate:	n/a
20	chr4:10459132-10459182	U87	brain:	n/a
21	chr4:10459228-10459278	HepG2	liver:	n/a
22	chr4:10459128-10459178	AG09319	gingival:	n/a
23	chr4:10459132-10459182	HPAEpiC	pulmonary alveolar:	n/a
24	chr4:10459219-10459269	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:10459141-10459191	ProgFib	skin:	n/a
26	chr4:10458049-10458099	CMK	blood:	n/a
27	chr4:10458165-10458215	HNPCEpiC	eye:	n/a
28	chr4:10458049-10458099	GM12892	blood:	n/a
29	chr4:10459132-10459182	HMEC	breast:	n/a
30	chr4:10459435-10459485	NT2-D1	testis:	n/a
31	chr4:10459929-10459979	IMR90	lung:	fetal
32	chr4:10459836-10459886	HL-60	blood:	n/a
33	chr4:10458454-10458504	HNPCEpiC	eye:	n/a
34	chr4:10458049-10458099	AG09319	gingival:	n/a
35	chr4:10459435-10459485	HCPEpiC	choroid plexus:	n/a
36	chr4:10459228-10459278	HMEC	breast:	n/a
37	chr4:10459219-10459269	GM12878	blood:	n/a
38	chr4:10458531-10458581	NT2-D1	testis:	n/a
39	chr4:10459132-10459182	PFSK-1	brain:	n/a
40	chr4:10458918-10458968	HUVEC	blood vessel:	n/a
41	chr4:10458165-10458215	PrEC	prostate:	n/a
42	chr4:10459435-10459485	HEEpiC	esophagus:	n/a
43	chr4:10459141-10459191	CMK	blood:	n/a
44	chr4:10459228-10459278	NHDF-neo	bronchial:	n/a
45	chr4:10459352-10459402	SK-N-SH_RA	brain:	n/a
46	chr4:10459228-10459278	GM06990	blood:	n/a
47	chr4:10459163-10459213	GM19239	blood:	n/a
48	chr4:10459183-10459233	HEEpiC	esophagus:	n/a
49	chr4:10458531-10458581	Caco-2	colon:	n/a
50	chr4:10458531-10458581	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10114078..10122203-chr4:10455501..10461954,12	K562	blood:
2	chr4:10186685..10189037-chr4:10459555..10461188,2	K562	blood:
3	chr4:10142152..10144542-chr4:10456013..10458159,2	K562	blood:
4	chr4:10177971..10181867-chr4:10459708..10464611,4	K562	blood:
5	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:
6	chr4:10439495..10442453-chr4:10454853..10458527,4	K562	blood:
7	chr17:34890127..34891028-chr4:10458093..10458597,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLNK-2	chr4:10458941-10459032	NONHSAT095501
2	lnc-CLNK-2	chr4:10458941-10459034	NONHSAT095502
3	lnc-CLNK-2	chr4:10458758-10458800	NONHSAT095503

Variant related genes	Relation type
ZNF518B	TF binding region
ZNF518B	CpG island
ENSG00000184886	chromatin interactions
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000141140	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567833360	chr4:10457981-10457982	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370999245	chr4:10457984-10457985	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538444701	chr4:10457996-10457997	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561514672	chr4:10458049-10458050	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142126656	chr4:10458050-10458051	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543876855	chr4:10458124-10458125	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs73090017	chr4:10458130-10458131	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs373862517	chr4:10458139-10458140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs532865078	chr4:10458165-10458166	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs115524215	chr4:10458226-10458227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs182753653	chr4:10458227-10458228	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141037145	chr4:10458259-10458260	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs373538137	chr4:10458417-10458418	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs568682450	chr4:10458433-10458434	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs572010368	chr4:10458451-10458452	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs76917885	chr4:10458486-10458487	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs370582051	chr4:10458506-10458507	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs557088022	chr4:10458564-10458565	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs569327659	chr4:10458589-10458590	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs374258052	chr4:10458591-10458592	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs557975886	chr4:10458919-10458920	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573111936	chr4:10458959-10458960	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs4077362	chr4:10458969-10458970	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113254846	chr4:10458998-10458999	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs146876703	chr4:10459014-10459015	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs544146402	chr4:10459039-10459040	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs374559394	chr4:10459051-10459052	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs4077363	chr4:10459137-10459138	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs193134595	chr4:10459160-10459161	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564317702	chr4:10459180-10459181	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375852519	chr4:10459236-10459237	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs552862521	chr4:10459246-10459247	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs184761427	chr4:10459270-10459271	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs568697809	chr4:10459280-10459281	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35349300	chr4:10459305-10459306	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs529564190	chr4:10459308-10459309	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368259227	chr4:10459314-10459315	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189206645	chr4:10459335-10459336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs569315496	chr4:10459420-10459421	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539927041	chr4:10459434-10459435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375633264	chr4:10459519-10459520	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192096842	chr4:10459526-10459527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs533944466	chr4:10459538-10459539	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs555272598	chr4:10459589-10459590	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs536714116	chr4:10459612-10459613	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs554664264	chr4:10459633-10459634	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs140716924	chr4:10459640-10459641	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575782558	chr4:10459677-10459678	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs367964588	chr4:10459794-10459795	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs555723568	chr4:10459817-10459818	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10448000-10458000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:10450600-10458000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:10452200-10458000	Weak transcription	Stomach Mucosa	stomach
4	chr4:10452400-10458000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:10452400-10458000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:10452800-10458000	Weak transcription	Pancreas	Pancrea
7	chr4:10454000-10458000	Weak transcription	Small Intestine	intestine
8	chr4:10456400-10458000	Weak transcription	Adipose Nuclei	Adipose
9	chr4:10456400-10458000	Weak transcription	Liver	Liver
10	chr4:10456400-10458000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:10456400-10458200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:10456600-10458000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:10456600-10458000	Weak transcription	Colonic Mucosa	Colon
14	chr4:10456600-10458000	Weak transcription	Esophagus	oesophagus
15	chr4:10456600-10458000	Weak transcription	Lung	lung
16	chr4:10456600-10458000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:10456600-10458000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:10456600-10458000	Weak transcription	Spleen	Spleen
19	chr4:10456800-10458000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10456800-10458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:10456800-10458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:10456800-10458000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:10456800-10458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:10456800-10458000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:10456800-10458000	Weak transcription	Gastric	stomach
26	chr4:10456800-10458200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr4:10457000-10458000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:10457000-10458000	Weak transcription	Aorta	Aorta
29	chr4:10457000-10458000	Weak transcription	Fetal Lung	lung
30	chr4:10457000-10458000	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:10457000-10458000	Weak transcription	Placenta	Placenta
32	chr4:10457000-10458000	Weak transcription	Fetal Stomach	stomach
33	chr4:10457000-10458000	Weak transcription	Left Ventricle	heart
34	chr4:10457000-10458000	Weak transcription	Ovary	ovary
35	chr4:10457200-10458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:10457200-10458000	Active TSS	Brain Germinal Matrix	brain
37	chr4:10457200-10458600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:10457400-10458000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr4:10457400-10458200	Active TSS	Fetal Brain Male	brain
40	chr4:10457400-10459200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:10457400-10459200	Active TSS	GM12878-XiMat	blood
42	chr4:10457600-10458000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:10457600-10458000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:10457600-10458000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:10457600-10458000	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr4:10457600-10458000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:10457600-10458000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:10457600-10458000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:10457600-10458000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:10457600-10458000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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