Variant report

Variant	esv3375080
Chromosome Location	chr6:1389978-1392526
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	BRCA1	chr6:1391177-1391516	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:1391227-1391372	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:1389787-1390147	ECC-1	luminal epithelium:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
4	CEBPB	chr6:1389739-1390124	IMR90	lung:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
5	CEBPB	chr6:1389752-1390066	H1-hESC	embryonic stem cell:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
6	CEBPB	chr6:1389738-1390126	Hela-S3	cervix:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
7	CEBPB	chr6:1389743-1390112	K562	blood:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
8	CEBPB	chr6:1389728-1390126	A549	lung:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
9	CEBPB	chr6:1389779-1390104	HepG2	liver:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
10	CEBPB	chr6:1389781-1390116	A549	lung:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
11	CEBPB	chr6:1389752-1390118	HepG2	liver:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
12	CEBPB	chr6:1389808-1390073	HepG2	liver:	n/a	chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938 chr6:1389929-1389938
13	CEBPD	chr6:1389791-1390068	HepG2	liver:	n/a	chr6:1389929-1389938
14	CHD1	chr6:1388277-1394777	IMR90	lung:	n/a	chr6:1389414-1389424
15	CHD2	chr6:1391183-1391493	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr6:1391124-1391742	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr6:1390563-1390853	Hela-S3	cervix:	n/a	n/a
18	CTBP2	chr6:1389053-1391565	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr6:1392324-1394628	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr6:1390440-1390590	HEK293	kidney:	n/a	n/a
21	CTCF	chr6:1390688-1390699	Fibrobl	skin:	n/a	n/a
22	CTCF	chr6:1390680-1390830	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:1390767-1390803	Fibrobl	skin:	n/a	n/a
24	CTCF	chr6:1390540-1390690	WERI-Rb-1	eye:	n/a	n/a
25	E2F1	chr6:1389765-1391236	Hela-S3	cervix:	n/a	chr6:1390438-1390449 chr6:1390075-1390084
26	E2F4	chr6:1390476-1390673	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F6	chr6:1390653-1391041	A549	lung:	n/a	n/a
28	E2F6	chr6:1391056-1391474	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr6:1390545-1391073	A549	lung:	n/a	n/a
30	EGR1	chr6:1389436-1390223	H1-hESC	embryonic stem cell:	n/a	n/a
31	EGR1	chr6:1390356-1390976	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOXP2	chr6:1389567-1390057	PFSK-1	brain:	n/a	n/a
33	GABPA	chr6:1390423-1390930	H1-hESC	embryonic stem cell:	n/a	n/a
34	GTF2F1	chr6:1392085-1392409	Hela-S3	cervix:	n/a	n/a
35	GTF2F1	chr6:1391424-1391866	Hela-S3	cervix:	n/a	n/a
36	HA-E2F1	chr6:1389604-1391383	Hela-S3	cervix:	n/a	chr6:1390438-1390449 chr6:1390075-1390084
37	HDAC2	chr6:1389744-1390067	HepG2	liver:	n/a	n/a
38	MAFK	chr6:1392112-1392359	Hela-S3	cervix:	n/a	n/a
39	MAX	chr6:1392382-1392450	Hela-S3	cervix:	n/a	n/a
40	MAX	chr6:1390742-1391488	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr6:1390082-1391224	A549	lung:	n/a	n/a
42	MAX	chr6:1390304-1390971	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr6:1390260-1391091	A549	lung:	n/a	n/a
44	MAX	chr6:1390371-1391566	Hela-S3	cervix:	n/a	n/a
45	MAX	chr6:1390577-1391547	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr6:1389680-1390062	Hela-S3	cervix:	n/a	n/a
47	MAX	chr6:1390721-1390990	A549	lung:	n/a	n/a
48	MAZ	chr6:1389524-1390075	Hela-S3	cervix:	n/a	n/a
49	MAZ	chr6:1390346-1390547	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr6:1388958-1390677	IMR90	lung:	n/a	chr6:1389407-1389417

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:1392250-1392300	Caco-2	colon:	n/a
2	chr6:1390361-1390411	PrEC	prostate:	n/a
3	chr6:1391265-1391315	HRCEpiC	kidney:	n/a
4	chr6:1389966-1390016	GM19239	blood:	n/a
5	chr6:1390998-1391048	HNPCEpiC	eye:	n/a
6	chr6:1390361-1390411	NHDF-neo	bronchial:	n/a
7	chr6:1389966-1390016	H1-hESC	embryonic stem cell:	embryo
8	chr6:1390622-1390672	CMK	blood:	n/a
9	chr6:1392250-1392300	MCF-7	breast:	n/a
10	chr6:1392250-1392300	MCF10A-Er-Src	breast:	n/a
11	chr6:1392250-1392300	AG04450	lung:	fetal
12	chr6:1389966-1390016	SK-N-SH_RA	brain:	n/a
13	chr6:1391265-1391315	HL-60	blood:	n/a
14	chr6:1390838-1390888	BE2_C	brain:	n/a
15	chr6:1389966-1390016	Hepatocyte	liver:	n/a
16	chr6:1390622-1390672	AG04449	skin:	fetal
17	chr6:1390361-1390411	AG09319	gingival:	n/a
18	chr6:1390361-1390411	RPTEC	kidney:	n/a
19	chr6:1391265-1391315	SAEC	small airway:	n/a
20	chr6:1390998-1391048	MCF10A-Er-Src	breast:	n/a
21	chr6:1390622-1390672	HEEpiC	esophagus:	n/a
22	chr6:1391265-1391315	H1-hESC	embryonic stem cell:	embryo
23	chr6:1392250-1392300	AG10803	skin:	n/a
24	chr6:1392250-1392300	NT2-D1	testis:	n/a
25	chr6:1391207-1391257	NT2-D1	testis:	n/a
26	chr6:1390838-1390888	GM12878	blood:	n/a
27	chr6:1390622-1390672	IMR90	lung:	fetal
28	chr6:1390838-1390888	HRCEpiC	kidney:	n/a
29	chr6:1392250-1392300	NB4	blood:	n/a
30	chr6:1391758-1391808	AG04449	skin:	fetal
31	chr6:1389966-1390016	AG09309	skin:	n/a
32	chr6:1390361-1390411	HRPEpiC	eye:	n/a
33	chr6:1391265-1391315	HIPEpiC	eye:	n/a
34	chr6:1390998-1391048	AG04449	skin:	fetal
35	chr6:1391758-1391808	HCT-116	colon:	n/a
36	chr6:1390361-1390411	HCT-116	colon:	n/a
37	chr6:1390622-1390672	GM12892	blood:	n/a
38	chr6:1392250-1392300	BE2_C	brain:	n/a
39	chr6:1390361-1390411	H1-hESC	embryonic stem cell:	embryo
40	chr6:1390622-1390672	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:1391758-1391808	GM12892	blood:	n/a
42	chr6:1391758-1391808	U87	brain:	n/a
43	chr6:1389966-1390016	AG10803	skin:	n/a
44	chr6:1390361-1390411	GM12891	blood:	n/a
45	chr6:1390838-1390888	T-47D	breast:	n/a
46	chr6:1391758-1391808	GM06990	blood:	n/a
47	chr6:1389966-1390016	HCM	heart:	n/a
48	chr6:1392250-1392300	GM12892	blood:	n/a
49	chr6:1390361-1390411	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:1390622-1390672	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1389385..1390191-chr9:130213802..130214756,2	Hela-S3	cervix:
2	chr12:56861777..56862532-chr6:1390623..1391151,2	Hela-S3	cervix:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6720-5p	chr6:1390594-1390616	MIMAT0027345
hsa-miR-6720-3p	chr6:1390559-1390580	MIMAT0025851

Variant related genes	Relation type
FOXF2	TF binding region
ENSG00000261730	TF binding region
FOXF2	CpG island
ENSG00000261730	CpG island
ENSG00000148356	chromatin interactions
ENSG00000176422	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556754892	chr6:1390019-1390020	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs576714850	chr6:1390020-1390021	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542317622	chr6:1390137-1390138	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562183008	chr6:1390200-1390201	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78728576	chr6:1390278-1390279	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369263338	chr6:1390317-1390318	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566600490	chr6:1390382-1390383	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374633411	chr6:1390385-1390386	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564550058	chr6:1390406-1390407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547098264	chr6:1390431-1390432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72667003	chr6:1390444-1390445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200419233	chr6:1390557-1390558	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201914560	chr6:1390576-1390577	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	miRNA	n/a	Overlapped CNVs	n/a
14	rs376505537	chr6:1390599-1390600	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	miRNA	n/a	Overlapped CNVs	n/a
15	rs375888198	chr6:1390677-1390678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139305490	chr6:1390687-1390688	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368909691	chr6:1390746-1390747	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567798985	chr6:1390870-1390871	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199884034	chr6:1390882-1390883	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369781598	chr6:1390961-1390962	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368362837	chr6:1390978-1390979	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570065652	chr6:1390994-1390995	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147426137	chr6:1391085-1391086	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147183226	chr6:1391086-1391087	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397731476	chr6:1391087-1391088	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111257067	chr6:1391096-1391097	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs58230522	chr6:1391101-1391102	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372143569	chr6:1391205-1391206	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144247905	chr6:1391220-1391221	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs199606504	chr6:1391288-1391289	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201671814	chr6:1391307-1391308	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs11759800	chr6:1391331-1391332	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376820659	chr6:1391339-1391340	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs150644359	chr6:1391341-1391342	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369747169	chr6:1391362-1391363	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569056489	chr6:1391373-1391374	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs1737759	chr6:1391403-1391404	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143957149	chr6:1391420-1391421	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189777925	chr6:1391513-1391514	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542429890	chr6:1391520-1391521	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374151108	chr6:1391525-1391526	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111582458	chr6:1391538-1391539	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs41314183	chr6:1391575-1391576	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs41300825	chr6:1391620-1391621	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143898810	chr6:1391635-1391636	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545662168	chr6:1391644-1391645	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562458178	chr6:1391672-1391673	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531533072	chr6:1391685-1391686	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547959561	chr6:1391724-1391725	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79471536	chr6:1391769-1391770	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1387400-1390800	Bivalent/Poised TSS	Colonic Mucosa	Colon
2	chr6:1387600-1390800	Active TSS	NHLF	lung
3	chr6:1387800-1392800	Active TSS	Colon Smooth Muscle	Colon
4	chr6:1388000-1390600	Enhancers	Spleen	Spleen
5	chr6:1388000-1395200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
6	chr6:1388200-1394400	Bivalent/Poised TSS	Fetal Lung	lung
7	chr6:1388400-1390000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr6:1388400-1390600	Active TSS	Lung	lung
9	chr6:1388400-1391400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr6:1388600-1390400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:1388600-1393000	Active TSS	NHDF-Ad	bronchial
12	chr6:1388800-1390600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:1388800-1391800	Bivalent Enhancer	Liver	Liver
14	chr6:1389000-1391200	Active TSS	Right Atrium	heart
15	chr6:1389000-1391400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:1389000-1391800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:1389000-1392600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:1389200-1390000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr6:1389200-1390600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:1389200-1390800	Active TSS	Aorta	Aorta
21	chr6:1389200-1391000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:1389200-1391000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr6:1389200-1391400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:1389200-1391400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:1389200-1391800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:1389400-1390200	Weak transcription	Gastric	stomach
27	chr6:1389400-1390200	Active TSS	Pancreas	Pancrea
28	chr6:1389400-1390400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr6:1389400-1390400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:1389400-1390400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:1389400-1390400	Active TSS	Psoas Muscle	Psoas
32	chr6:1389400-1390400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:1389400-1391200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:1389400-1391200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:1389400-1391200	Active TSS	Stomach Smooth Muscle	stomach
36	chr6:1389600-1390200	Bivalent/Poised TSS	Right Ventricle	heart
37	chr6:1389600-1390200	Weak transcription	A549	lung
38	chr6:1389600-1390400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:1389600-1390400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:1389600-1390400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:1389600-1390400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:1389600-1390400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:1389600-1390400	Active TSS	Adipose Nuclei	Adipose
44	chr6:1389600-1390400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
45	chr6:1389600-1390600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:1389600-1390800	Bivalent/Poised TSS	HepG2	liver
47	chr6:1389600-1391000	Bivalent/Poised TSS	HSMM	muscle
48	chr6:1389600-1391200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:1389600-1391200	Active TSS	Osteobl	bone
50	chr6:1389600-1392800	Active TSS	Hela-S3	cervix

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