Variant report

Variant	esv3341897
Chromosome Location	chr5:94618421-94620969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:344)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:94620929-94621103	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr5:94619815-94620025	K562	blood:	n/a	n/a
3	CHD1	chr5:94620443-94621239	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr5:94620181-94620425	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr5:94619743-94620012	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr5:94619666-94619789	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr5:94619683-94619942	A549	lung:	n/a	n/a
8	CTBP2	chr5:94619497-94621226	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:94620004-94620158	GM19239	blood:	n/a	n/a
10	CTCF	chr5:94619800-94619950	HAc	cerebellar:	n/a	n/a
11	CTCF	chr5:94619776-94619903	GM13976	blood:	n/a	n/a
12	CTCF	chr5:94619780-94619930	HMF	breast:	n/a	n/a
13	CTCF	chr5:94620947-94621084	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:94619740-94619890	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr5:94620665-94620675	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:94619800-94619950	WI-38	lung:	n/a	n/a
17	CTCF	chr5:94619740-94619890	HepG2	liver:	n/a	n/a
18	CTCF	chr5:94619840-94619990	BE2_C	brain:	n/a	n/a
19	CTCF	chr5:94620960-94621110	GM12869	blood:	n/a	n/a
20	CTCF	chr5:94619710-94619910	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr5:94619760-94619910	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr5:94620016-94620133	Fibrobl	skin:	n/a	n/a
23	CTCF	chr5:94619700-94619850	HMEC	breast:	n/a	n/a
24	CTCF	chr5:94620916-94621149	LNCaP	prostate:	n/a	n/a
25	CTCF	chr5:94619760-94619910	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr5:94619760-94619910	GM12864	blood:	n/a	n/a
27	CTCF	chr5:94619760-94619910	GM12865	blood:	n/a	n/a
28	CTCF	chr5:94619726-94619939	A549	lung:	n/a	n/a
29	CTCF	chr5:94619517-94619598	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:94619780-94619930	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr5:94619800-94619950	A549	lung:	n/a	n/a
32	CTCF	chr5:94619760-94619910	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr5:94619760-94619910	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:94620967-94621108	Medullo	brain:	n/a	n/a
35	CTCF	chr5:94619760-94619910	GM12878	blood:	n/a	n/a
36	CTCF	chr5:94620920-94621115	GM10248	blood:	n/a	n/a
37	CTCF	chr5:94619740-94619890	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr5:94619726-94619934	HepG2	liver:	n/a	n/a
39	CTCF	chr5:94620960-94621110	HRE	kidney:	n/a	n/a
40	CTCF	chr5:94619657-94619942	T-47D	breast:	n/a	n/a
41	CTCF	chr5:94619740-94619890	AG04449	skin:	n/a	n/a
42	CTCF	chr5:94619740-94619890	GM12873	blood:	n/a	n/a
43	CTCF	chr5:94619760-94619910	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr5:94619486-94620243	A549	lung:	n/a	n/a
45	CTCF	chr5:94619703-94619960	K562	blood:	n/a	n/a
46	CTCF	chr5:94619685-94620094	Gliobla	brain:	n/a	n/a
47	CTCF	chr5:94619580-94619730	HCM	heart:	n/a	n/a
48	CTCF	chr5:94620788-94620919	GM10248	blood:	n/a	n/a
49	CTCF	chr5:94620680-94620713	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:94619740-94619890	NHDF-neo	bronchial:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:94620959-94621009	H1-hESC	embryonic stem cell:	embryo
2	chr5:94619419-94619469	HEK293	kidney:	embryo
3	chr5:94619419-94619469	HCF	heart:	n/a
4	chr5:94620042-94620092	PANC-1	pancreas:	n/a
5	chr5:94619419-94619469	PANC-1	pancreas:	n/a
6	chr5:94619419-94619469	K562	blood:	n/a
7	chr5:94619460-94619510	NHBE	bronchial:	n/a
8	chr5:94619419-94619469	AG04449	skin:	fetal
9	chr5:94620042-94620092	HUVEC	blood vessel:	n/a
10	chr5:94619460-94619510	SK-N-MC	brain:	n/a
11	chr5:94619419-94619469	SK-N-SH	brain:	n/a
12	chr5:94620929-94620979	A549	lung:	n/a
13	chr5:94620929-94620979	HL-60	blood:	n/a
14	chr5:94620929-94620979	HRCEpiC	kidney:	n/a
15	chr5:94619419-94619469	ProgFib	skin:	n/a
16	chr5:94619419-94619469	AG10803	skin:	n/a
17	chr5:94619460-94619510	SK-N-SH_RA	brain:	n/a
18	chr5:94619460-94619510	ECC-1	luminal epithelium:	n/a
19	chr5:94620134-94620184	RPTEC	kidney:	n/a
20	chr5:94620929-94620979	HRE	kidney:	n/a
21	chr5:94619460-94619510	MCF10A-Er-Src	breast:	n/a
22	chr5:94620959-94621009	HRCEpiC	kidney:	n/a
23	chr5:94619419-94619469	ECC-1	luminal epithelium:	n/a
24	chr5:94619419-94619469	HL-60	blood:	n/a
25	chr5:94620042-94620092	HNPCEpiC	eye:	n/a
26	chr5:94619419-94619469	NT2-D1	testis:	n/a
27	chr5:94620959-94621009	GM12892	blood:	n/a
28	chr5:94620959-94621009	AG09309	skin:	n/a
29	chr5:94620929-94620979	HNPCEpiC	eye:	n/a
30	chr5:94620134-94620184	HAEpiC	amniotic membrane:	n/a
31	chr5:94620134-94620184	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:94620134-94620184	LNCaP	prostate:	n/a
33	chr5:94619419-94619469	T-47D	breast:	n/a
34	chr5:94620134-94620184	HCPEpiC	choroid plexus:	n/a
35	chr5:94620959-94621009	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:94620042-94620092	Hepatocyte	liver:	n/a
37	chr5:94620959-94621009	LNCaP	prostate:	n/a
38	chr5:94619419-94619469	HNPCEpiC	eye:	n/a
39	chr5:94620134-94620184	ECC-1	luminal epithelium:	n/a
40	chr5:94620929-94620979	GM12891	blood:	n/a
41	chr5:94619460-94619510	K562	blood:	n/a
42	chr5:94620959-94621009	Caco-2	colon:	n/a
43	chr5:94620959-94621009	NH-A	brain:	n/a
44	chr5:94620929-94620979	SK-N-SH	brain:	n/a
45	chr5:94619460-94619510	HEEpiC	esophagus:	n/a
46	chr5:94620929-94620979	SAEC	small airway:	n/a
47	chr5:94620929-94620979	HUVEC	blood vessel:	n/a
48	chr5:94620959-94621009	PFSK-1	brain:	n/a
49	chr5:94620929-94620979	HCT-116	colon:	n/a
50	chr5:94620929-94620979	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
MCTP1	TF binding region
MCTP1	CpG island

Extended variants
information (count: 90 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139112444	chr5:94618426-94618427	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535167957	chr5:94618469-94618470	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140307260	chr5:94618529-94618530	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78512610	chr5:94618540-94618541	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555099851	chr5:94618594-94618595	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539784491	chr5:94618618-94618619	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs114918664	chr5:94618657-94618658	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556845123	chr5:94618698-94618699	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566168879	chr5:94618778-94618779	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577090136	chr5:94618793-94618794	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs545676504	chr5:94618821-94618822	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs116487165	chr5:94618842-94618843	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs186818971	chr5:94618846-94618847	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs536391523	chr5:94618905-94618906	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs541377777	chr5:94618944-94618945	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs143125847	chr5:94619024-94619025	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112580443	chr5:94619047-94619048	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190066969	chr5:94619057-94619058	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150392284	chr5:94619106-94619107	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563706598	chr5:94619113-94619114	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532893238	chr5:94619174-94619175	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543009119	chr5:94619221-94619222	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs33809	chr5:94619232-94619233	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs78037044	chr5:94619235-94619236	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79386478	chr5:94619236-94619237	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76341354	chr5:94619238-94619239	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75895554	chr5:94619240-94619241	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368775118	chr5:94619265-94619266	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182633845	chr5:94619275-94619276	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs138149778	chr5:94619283-94619284	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548562665	chr5:94619419-94619420	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568557843	chr5:94619449-94619450	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537121813	chr5:94619465-94619466	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557148052	chr5:94619500-94619501	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576954100	chr5:94619532-94619533	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5869672	chr5:94619545-94619546	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397998773	chr5:94619547-94619548	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377659390	chr5:94619573-94619574	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200304641	chr5:94619585-94619586	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572759119	chr5:94619602-94619603	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs537246814	chr5:94619746-94619747	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372798151	chr5:94619753-94619754	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541438977	chr5:94619776-94619777	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201538284	chr5:94619786-94619787	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370172247	chr5:94619823-94619824	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs373085719	chr5:94619838-94619839	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200472086	chr5:94619886-94619887	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs561495669	chr5:94619894-94619895	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575323070	chr5:94619901-94619902	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79130718	chr5:94619905-94619906	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94615800-94618800	Active TSS	Fetal Brain Female	brain
2	chr5:94616200-94619000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:94616800-94619000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:94617000-94618800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:94617400-94618800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:94617400-94619000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:94617800-94618800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:94617800-94618800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:94617800-94618800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr5:94618200-94619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:94618400-94618800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr5:94618400-94620000	Enhancers	Fetal Brain Male	brain
13	chr5:94618400-94621200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:94618600-94618800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr5:94618600-94618800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr5:94618600-94621600	Active TSS	Brain Angular Gyrus	brain
17	chr5:94618800-94619000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:94618800-94619000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:94618800-94619000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr5:94618800-94619000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr5:94618800-94619000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:94618800-94619000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:94618800-94619000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:94618800-94619000	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr5:94618800-94619000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr5:94618800-94619000	Bivalent Enhancer	HUVEC	blood vessel
27	chr5:94618800-94619200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:94618800-94619200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr5:94618800-94619200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr5:94618800-94619200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr5:94618800-94619200	Bivalent Enhancer	Brain Germinal Matrix	brain
32	chr5:94618800-94619400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr5:94618800-94619600	Active TSS	Right Ventricle	heart
34	chr5:94618800-94620600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr5:94618800-94620600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:94618800-94620800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr5:94618800-94620800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:94618800-94620800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
39	chr5:94619000-94619200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr5:94619000-94619200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:94619000-94619200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:94619000-94619200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr5:94619000-94619200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:94619000-94619200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:94619000-94619200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:94619000-94619200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:94619000-94619200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chr5:94619000-94619200	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr5:94619000-94619200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr5:94619000-94619200	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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