Variant report

Variant	esv3398602
Chromosome Location	chr8:125383071-125386069
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	chr8:125384933-125385337	HepG2	liver:	n/a	n/a
2	ATF3	chr8:125384617-125385011	K562	blood:	n/a	chr8:125384979-125384988 chr8:125384948-125384957
3	ATF3	chr8:125384686-125384898	K562	blood:	n/a	n/a
4	ATF3	chr8:125384909-125385516	A549	lung:	n/a	chr8:125384979-125384988 chr8:125384948-125384957
5	BACH1	chr8:125385046-125385570	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr8:125385003-125385556	GM12878	blood:	n/a	n/a
7	BHLHE40	chr8:125383780-125383798	K562	blood:	n/a	n/a
8	BHLHE40	chr8:125384768-125385268	GM12878	blood:	n/a	chr8:125384900-125384916 chr8:125384902-125384918 chr8:125384899-125384915
9	BHLHE40	chr8:125384791-125385468	K562	blood:	n/a	chr8:125384900-125384916 chr8:125384902-125384918 chr8:125384899-125384915
10	BHLHE40	chr8:125384659-125385317	HepG2	liver:	n/a	chr8:125384900-125384916 chr8:125384902-125384918 chr8:125384899-125384915
11	BHLHE40	chr8:125384474-125384531	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:125383492-125383559	K562	blood:	n/a	n/a
13	BRCA1	chr8:125384650-125385183	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr8:125384516-125384645	HepG2	liver:	n/a	n/a
15	CBX3	chr8:125384611-125385481	K562	blood:	n/a	n/a
16	CCNT2	chr8:125384167-125385698	K562	blood:	n/a	chr8:125385296-125385305 chr8:125384979-125384988
17	CEBPB	chr8:125384577-125385184	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr8:125383139-125383814	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr8:125384651-125385242	HepG2	liver:	n/a	n/a
20	CEBPD	chr8:125384813-125385111	HepG2	liver:	n/a	n/a
21	CHD1	chr8:125384366-125384531	GM12878	blood:	n/a	n/a
22	CHD1	chr8:125384881-125385181	GM12878	blood:	n/a	chr8:125384980-125384990 chr8:125384949-125384959 chr8:125385171-125385181
23	CHD2	chr8:125383537-125385286	Hela-S3	cervix:	n/a	chr8:125384980-125384990 chr8:125384949-125384959 chr8:125384603-125384613 chr8:125385171-125385181 chr8:125383929-125383939
24	CHD2	chr8:125384518-125384576	HepG2	liver:	n/a	n/a
25	CHD2	chr8:125384870-125385308	HepG2	liver:	n/a	chr8:125384980-125384990 chr8:125384949-125384959 chr8:125385171-125385181
26	CHD2	chr8:125384729-125385542	GM12878	blood:	n/a	chr8:125384980-125384990 chr8:125384949-125384959 chr8:125385171-125385181
27	CHD2	chr8:125383730-125383968	GM12878	blood:	n/a	chr8:125383929-125383939
28	CHD2	chr8:125384983-125385183	H1-hESC	embryonic stem cell:	n/a	chr8:125385171-125385181
29	CHD2	chr8:125384538-125384592	K562	blood:	n/a	n/a
30	CREB1	chr8:125383672-125383925	A549	lung:	n/a	n/a
31	CREB1	chr8:125384554-125385329	K562	blood:	n/a	n/a
32	CREB1	chr8:125384585-125385475	A549	lung:	n/a	n/a
33	CREB1	chr8:125384379-125385465	HepG2	liver:	n/a	n/a
34	CREB1	chr8:125384617-125385304	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr8:125385300-125385450	GM12872	blood:	n/a	n/a
36	CTCF	chr8:125384880-125385030	GM06990	blood:	n/a	chr8:125384918-125384934
37	CTCF	chr8:125384660-125384810	GM12866	blood:	n/a	chr8:125384692-125384705 chr8:125384661-125384674
38	CTCF	chr8:125385020-125385170	HMF	breast:	n/a	n/a
39	CTCF	chr8:125385020-125385170	WI-38	lung:	n/a	n/a
40	CTCF	chr8:125384802-125385190	SK-N-SH_RA	brain:	n/a	chr8:125384918-125384934
41	CTCF	chr8:125384866-125385246	A549	lung:	n/a	chr8:125384918-125384934
42	CTCF	chr8:125384080-125384230	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr8:125384860-125385010	GM12867	blood:	n/a	chr8:125384918-125384934
44	CTCF	chr8:125384960-125385110	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr8:125384160-125384310	GM12866	blood:	n/a	n/a
46	CTCF	chr8:125385100-125385250	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr8:125385010-125385240	GM13976	blood:	n/a	n/a
48	CTCF	chr8:125385060-125385210	HMF	breast:	n/a	n/a
49	CTCF	chr8:125384100-125384250	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr8:125385000-125385150	GM12875	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125385259-125385309	SAEC	small airway:	n/a
2	chr8:125385259-125385309	SAEC	small airway:	n/a
3	chr8:125384789-125384839	HCM	heart:	n/a
4	chr8:125383532-125383582	AG09319	gingival:	n/a
5	chr8:125385036-125385086	IMR90	lung:	fetal
6	chr8:125385259-125385309	NB4	blood:	n/a
7	chr8:125384727-125384777	NT2-D1	testis:	n/a
8	chr8:125385252-125385302	HUVEC	blood vessel:	n/a
9	chr8:125384848-125384898	HNPCEpiC	eye:	n/a
10	chr8:125385259-125385309	U87	brain:	n/a
11	chr8:125385252-125385302	NT2-D1	testis:	n/a
12	chr8:125384179-125384229	SAEC	small airway:	n/a
13	chr8:125385252-125385302	GM12878	blood:	n/a
14	chr8:125385036-125385086	AoSMC	blood vessel:	n/a
15	chr8:125383532-125383582	GM06990	blood:	n/a
16	chr8:125385252-125385302	HPAEpiC	pulmonary alveolar:	n/a
17	chr8:125385252-125385302	HEEpiC	esophagus:	n/a
18	chr8:125385259-125385309	H1-hESC	embryonic stem cell:	embryo
19	chr8:125385252-125385302	NB4	blood:	n/a
20	chr8:125383826-125383876	PrEC	prostate:	n/a
21	chr8:125385436-125385486	AG10803	skin:	n/a
22	chr8:125385504-125385554	GM06990	blood:	n/a
23	chr8:125384179-125384229	HEK293	kidney:	embryo
24	chr8:125384727-125384777	SK-N-MC	brain:	n/a
25	chr8:125383532-125383582	BJ	skin:	n/a
26	chr8:125383826-125383876	SK-N-SH	brain:	n/a
27	chr8:125383532-125383582	PANC-1	pancreas:	n/a
28	chr8:125384789-125384839	HRPEpiC	eye:	n/a
29	chr8:125385259-125385309	A549	lung:	n/a
30	chr8:125385252-125385302	HNPCEpiC	eye:	n/a
31	chr8:125384789-125384839	HMEC	breast:	n/a
32	chr8:125384789-125384839	HRCEpiC	kidney:	n/a
33	chr8:125383532-125383582	AG10803	skin:	n/a
34	chr8:125385252-125385302	T-47D	breast:	n/a
35	chr8:125383532-125383582	HCM	heart:	n/a
36	chr8:125383826-125383876	AoSMC	blood vessel:	n/a
37	chr8:125384179-125384229	GM06990	blood:	n/a
38	chr8:125383826-125383876	AG09319	gingival:	n/a
39	chr8:125384848-125384898	HEK293	kidney:	embryo
40	chr8:125385252-125385302	LNCaP	prostate:	n/a
41	chr8:125384727-125384777	AG04449	skin:	fetal
42	chr8:125385036-125385086	HRPEpiC	eye:	n/a
43	chr8:125385436-125385486	Hela-S3	cervix:	n/a
44	chr8:125385504-125385554	NHBE	bronchial:	n/a
45	chr8:125384848-125384898	GM06990	blood:	n/a
46	chr8:125384121-125384171	AG04449	skin:	fetal
47	chr8:125385130-125385180	NB4	blood:	n/a
48	chr8:125385036-125385086	MCF-7	breast:	n/a
49	chr8:125385036-125385086	GM12892	blood:	n/a
50	chr8:125385036-125385086	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
2	chr8:125383681..125384360-chr8:125437557..125438176,2	MCF-7	breast:
3	chr8:125283009..125285432-chr8:125382555..125384066,2	MCF-7	breast:
4	chr8:124778955..124781096-chr8:125382427..125384445,2	MCF-7	breast:
5	chr8:125049737..125050909-chr8:125384988..125386022,4	MCF-7	breast:
6	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
7	chr8:124792618..124794440-chr8:125383847..125385509,2	MCF-7	breast:
8	chr15:59041844..59042500-chr8:125383995..125384667,2	Hela-S3	cervix:
9	chr8:125259085..125259702-chr8:125384481..125385306,2	MCF-7	breast:
10	chr8:125380396..125382052-chr8:125382659..125384185,2	K562	blood:
11	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
12	chr8:125052149..125053721-chr8:125383460..125385142,2	MCF-7	breast:
13	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:

Variant related genes	Relation type
TMEM65	TF binding region
TMEM65	CpG island
ENSG00000253227	chromatin interactions
ENSG00000181171	chromatin interactions
ENSG00000137845	chromatin interactions
ENSG00000176853	chromatin interactions
ENSG00000254249	chromatin interactions
ENSG00000250727	chromatin interactions
ENSG00000214803	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146651877	chr8:125383073-125383074	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140238340	chr8:125383074-125383075	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116925500	chr8:125383188-125383189	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552307428	chr8:125383203-125383204	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565651867	chr8:125383219-125383220	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534695073	chr8:125383262-125383263	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372742054	chr8:125383270-125383271	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs66538719	chr8:125383279-125383280	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567711334	chr8:125383390-125383391	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537395346	chr8:125383418-125383419	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557236033	chr8:125383494-125383495	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs181744864	chr8:125383513-125383514	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs368813985	chr8:125383535-125383536	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs539661637	chr8:125383544-125383545	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs553502899	chr8:125383545-125383546	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs553179027	chr8:125383581-125383582	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs573284002	chr8:125383590-125383591	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs185627916	chr8:125383592-125383593	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs562105330	chr8:125383649-125383650	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs575704137	chr8:125383679-125383680	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs544567198	chr8:125383681-125383682	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs7387895	chr8:125383712-125383713	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199888218	chr8:125383771-125383772	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs532399990	chr8:125383785-125383786	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs563642391	chr8:125383887-125383888	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs552117914	chr8:125383921-125383922	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs575493469	chr8:125383936-125383937	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs528218470	chr8:125383954-125383955	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs547881259	chr8:125383957-125383958	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs567770464	chr8:125384000-125384001	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs530434004	chr8:125384048-125384049	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs375828904	chr8:125384049-125384050	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs377714284	chr8:125384062-125384063	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs17854113	chr8:125384110-125384111	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs540103095	chr8:125384133-125384134	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs371357144	chr8:125384183-125384184	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs374732240	chr8:125384184-125384185	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs367761270	chr8:125384205-125384206	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs17855651	chr8:125384382-125384383	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs377114972	chr8:125384419-125384420	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs7841552	chr8:125384436-125384437	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567045713	chr8:125384449-125384450	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs536000949	chr8:125384455-125384456	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs562687094	chr8:125384544-125384545	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs555898047	chr8:125384550-125384551	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs575764756	chr8:125384605-125384606	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs190392153	chr8:125384625-125384626	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs111990390	chr8:125384664-125384665	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs558153979	chr8:125384720-125384721	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs371031228	chr8:125384803-125384804	Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125376800-125383400	Weak transcription	Esophagus	oesophagus
2	chr8:125378800-125383400	Weak transcription	Aorta	Aorta
3	chr8:125378800-125383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:125379200-125383600	Weak transcription	Lung	lung
5	chr8:125379400-125383400	Weak transcription	Small Intestine	intestine
6	chr8:125379600-125383600	Weak transcription	Gastric	stomach
7	chr8:125380600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:125381000-125383400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:125381000-125383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:125381000-125383600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:125381000-125383600	Weak transcription	Spleen	Spleen
12	chr8:125381000-125383800	Active TSS	Fetal Heart	heart
13	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
14	chr8:125381200-125383200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:125381200-125383400	Weak transcription	Pancreas	Pancrea
16	chr8:125381600-125383600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:125381600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:125381600-125385600	Active TSS	Fetal Brain Female	brain
19	chr8:125381800-125383600	Active TSS	Right Atrium	heart
20	chr8:125381800-125383600	Flanking Active TSS	HUVEC	blood vessel
21	chr8:125382000-125383200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:125382000-125383200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:125382000-125383200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:125382000-125383600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:125382000-125383800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:125382000-125383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr8:125382000-125383800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr8:125382000-125385600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:125382000-125385600	Active TSS	Psoas Muscle	Psoas
30	chr8:125382200-125383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:125382200-125385200	Active TSS	Primary T cells fromperipheralblood	blood
32	chr8:125382200-125385400	Active TSS	Duodenum Mucosa	Duodenum
33	chr8:125382200-125385400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr8:125382200-125385400	Active TSS	GM12878-XiMat	blood
35	chr8:125382200-125385600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:125382200-125385600	Active TSS	A549	lung
37	chr8:125382200-125385800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:125382400-125383200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:125382400-125383200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:125382400-125383400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:125382400-125383400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:125382400-125383600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr8:125382400-125383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr8:125382400-125383800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:125382400-125385200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:125382400-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:125382600-125383200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:125382600-125383200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:125382600-125383200	Active TSS	Brain Germinal Matrix	brain
50	chr8:125382600-125383200	Bivalent Enhancer	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links