Variant report

Variant	esv3349548
Chromosome Location	chr1:72747614-72749662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:673)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:72748062-72748227	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:72748894-72749768	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr1:72748195-72748394	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:72749276-72749833	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr1:72748537-72748783	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:72748420-72750957	Hela-S3	cervix:	n/a	chr1:72750584-72750595 chr1:72748863-72748876 chr1:72750585-72750596 chr1:72750147-72750158
7	CEBPB	chr1:72748450-72748905	IMR90	lung:	n/a	chr1:72748863-72748876
8	CEBPB	chr1:72749367-72749678	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:72748554-72748740	HepG2	liver:	n/a	n/a
10	CHD1	chr1:72748624-72750228	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr1:72748366-72748381	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr1:72748405-72750930	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr1:72749095-72750447	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr1:72748543-72748846	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr1:72748477-72748773	A549	lung:	n/a	n/a
16	CREB1	chr1:72748399-72748786	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr1:72747565-72750445	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:72748420-72748570	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr1:72748485-72748584	LNCaP	prostate:	n/a	n/a
20	CTCF	chr1:72748420-72748570	SAEC	small airway:	n/a	n/a
21	CTCF	chr1:72748500-72748750	HUVEC	blood vessel:	n/a	chr1:72748735-72748744
22	CTCF	chr1:72748060-72748210	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr1:72749120-72749270	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr1:72748320-72748470	HMF	breast:	n/a	n/a
25	CTCF	chr1:72748480-72748630	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr1:72748120-72748270	AoAF	blood vessel:	n/a	chr1:72748229-72748238 chr1:72748226-72748236 chr1:72748257-72748267
27	CTCF	chr1:72748420-72748570	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:72748420-72748570	GM12873	blood:	n/a	n/a
29	CTCF	chr1:72748360-72748510	HVMF	connective:	n/a	n/a
30	CTCF	chr1:72749389-72749512	Lung_OC	lung:	n/a	n/a
31	CTCF	chr1:72748435-72748641	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr1:72748471-72748591	GM19239	blood:	n/a	n/a
33	CTCF	chr1:72748220-72748370	HEEpiC	esophagus:	n/a	chr1:72748229-72748238 chr1:72748226-72748236 chr1:72748257-72748267
34	CTCF	chr1:72748560-72748710	RPTEC	kidney:	n/a	n/a
35	CTCF	chr1:72748300-72748450	AG04450	lung:	n/a	n/a
36	CTCF	chr1:72748451-72748580	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr1:72748400-72748550	GM12865	blood:	n/a	n/a
38	CTCF	chr1:72748433-72748640	NHEK	skin:	n/a	n/a
39	CTCF	chr1:72748080-72748230	HFF	foreskin:	n/a	n/a
40	CTCF	chr1:72748360-72748510	AG09309	skin:	n/a	n/a
41	CTCF	chr1:72748060-72748210	RPTEC	kidney:	n/a	n/a
42	CTCF	chr1:72748482-72748618	GM13976	blood:	n/a	n/a
43	CTCF	chr1:72748480-72748630	AG09319	gingival:	n/a	n/a
44	CTCF	chr1:72748420-72748570	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr1:72748120-72748270	SK-N-SH_RA	brain:	n/a	chr1:72748229-72748238 chr1:72748226-72748236 chr1:72748257-72748267
46	CTCF	chr1:72748200-72748350	HUVEC	blood vessel:	n/a	chr1:72748229-72748238 chr1:72748226-72748236 chr1:72748257-72748267
47	CTCF	chr1:72748520-72748670	GM12874	blood:	n/a	n/a
48	CTCF	chr1:72748180-72748330	BJ	skin:	n/a	chr1:72748229-72748238 chr1:72748226-72748236 chr1:72748257-72748267
49	CTCF	chr1:72748420-72748570	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr1:72748180-72748330	HRE	kidney:	n/a	chr1:72748229-72748238 chr1:72748226-72748236 chr1:72748257-72748267

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:72748139-72748189	GM12878	blood:	n/a
2	chr1:72749275-72749325	HepG2	liver:	n/a
3	chr1:72748139-72748189	GM12878	blood:	n/a
4	chr1:72749275-72749325	HepG2	liver:	n/a
5	chr1:72748124-72748174	NH-A	brain:	n/a
6	chr1:72748389-72748439	HAEpiC	amniotic membrane:	n/a
7	chr1:72748610-72748660	NHBE	bronchial:	n/a
8	chr1:72748607-72748657	RPTEC	kidney:	n/a
9	chr1:72748124-72748174	HCPEpiC	choroid plexus:	n/a
10	chr1:72749275-72749325	Hepatocyte	liver:	n/a
11	chr1:72748389-72748439	Hela-S3	cervix:	n/a
12	chr1:72748601-72748651	SAEC	small airway:	n/a
13	chr1:72748607-72748657	PFSK-1	brain:	n/a
14	chr1:72748601-72748651	GM19239	blood:	n/a
15	chr1:72748610-72748660	BJ	skin:	n/a
16	chr1:72748124-72748174	ECC-1	luminal epithelium:	n/a
17	chr1:72747802-72747852	NH-A	brain:	n/a
18	chr1:72748389-72748439	AG09309	skin:	n/a
19	chr1:72748601-72748651	ECC-1	luminal epithelium:	n/a
20	chr1:72748139-72748189	A549	lung:	n/a
21	chr1:72748139-72748189	SAEC	small airway:	n/a
22	chr1:72748124-72748174	BJ	skin:	n/a
23	chr1:72749581-72749631	AG04450	lung:	fetal
24	chr1:72748610-72748660	HCPEpiC	choroid plexus:	n/a
25	chr1:72748601-72748651	AoSMC	blood vessel:	n/a
26	chr1:72748601-72748651	HUVEC	blood vessel:	n/a
27	chr1:72749581-72749631	GM19239	blood:	n/a
28	chr1:72749275-72749325	SK-N-SH_RA	brain:	n/a
29	chr1:72749581-72749631	Hepatocyte	liver:	n/a
30	chr1:72748124-72748174	GM19239	blood:	n/a
31	chr1:72748139-72748189	PFSK-1	brain:	n/a
32	chr1:72749064-72749114	AG04449	skin:	fetal
33	chr1:72748139-72748189	NHBE	bronchial:	n/a
34	chr1:72748601-72748651	HNPCEpiC	eye:	n/a
35	chr1:72748610-72748660	Hela-S3	cervix:	n/a
36	chr1:72748601-72748651	AG09309	skin:	n/a
37	chr1:72748607-72748657	AG04449	skin:	fetal
38	chr1:72748601-72748651	HIPEpiC	eye:	n/a
39	chr1:72748607-72748657	HRCEpiC	kidney:	n/a
40	chr1:72749275-72749325	AG04450	lung:	fetal
41	chr1:72748607-72748657	AG09309	skin:	n/a
42	chr1:72748389-72748439	PANC-1	pancreas:	n/a
43	chr1:72748389-72748439	HNPCEpiC	eye:	n/a
44	chr1:72748139-72748189	AG04450	lung:	fetal
45	chr1:72748601-72748651	HMEC	breast:	n/a
46	chr1:72748139-72748189	U87	brain:	n/a
47	chr1:72749581-72749631	HCT-116	colon:	n/a
48	chr1:72748601-72748651	HAEpiC	amniotic membrane:	n/a
49	chr1:72749064-72749114	AG09309	skin:	n/a
50	chr1:72749581-72749631	MCF-7	breast:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:72748841..72749750-chr13:47370740..47371446,2	NB4	blood:
2	chr1:72748974..72749649-chr17:56420933..56421808,2	NB4	blood:

No data

Variant related genes	Relation type
NEGR1	TF binding region
NEGR1	CpG island
ENSG00000139684	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182917331	chr1:72747664-72747665	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138882652	chr1:72747668-72747669	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202120053	chr1:72747695-72747696	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72942952	chr1:72747697-72747698	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548740837	chr1:72747722-72747723	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149407654	chr1:72747803-72747804	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs537422297	chr1:72747833-72747834	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs557449227	chr1:72747834-72747835	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552034962	chr1:72747836-72747837	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs3101341	chr1:72747844-72747845	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs147158427	chr1:72747847-72747848	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs573489769	chr1:72747885-72747886	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs371639092	chr1:72747912-72747913	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs377518173	chr1:72747951-72747952	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs534244724	chr1:72747956-72747957	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs140404024	chr1:72747962-72747963	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs377570912	chr1:72747967-72747968	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs370120253	chr1:72747975-72747976	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs374927573	chr1:72747977-72747978	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs186841543	chr1:72747991-72747992	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs151324323	chr1:72748011-72748012	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575723995	chr1:72748016-72748017	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544575439	chr1:72748034-72748035	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140653244	chr1:72748036-72748037	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371044840	chr1:72748039-72748040	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs267598711	chr1:72748042-72748043	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202188377	chr1:72748079-72748080	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142674139	chr1:72748084-72748085	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183107213	chr1:72748119-72748120	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199585673	chr1:72748125-72748126	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540095646	chr1:72748132-72748133	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375602055	chr1:72748149-72748150	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368350763	chr1:72748154-72748155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138829805	chr1:72748160-72748161	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12757365	chr1:72748183-72748184	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs372039630	chr1:72748201-72748202	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538321877	chr1:72748264-72748265	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs67850471	chr1:72748304-72748305	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs34988746	chr1:72748310-72748311	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs6697672	chr1:72748313-72748314	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6697677	chr1:72748321-72748322	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs78296138	chr1:72748345-72748346	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560279781	chr1:72748381-72748382	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369839888	chr1:72748416-72748417	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs529205106	chr1:72748425-72748426	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs549284442	chr1:72748464-72748465	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs568778408	chr1:72748520-72748521	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371682583	chr1:72748552-72748553	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556732273	chr1:72748558-72748559	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs66495454	chr1:72748567-72748568	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72743800-72751600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:72745000-72750800	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:72745000-72751200	Active TSS	Brain Angular Gyrus	brain
4	chr1:72745000-72751600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:72745200-72751400	Active TSS	Right Atrium	heart
6	chr1:72745400-72747800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:72745400-72747800	Flanking Active TSS	HUVEC	blood vessel
8	chr1:72745800-72748200	Flanking Active TSS	Dnd41	blood
9	chr1:72745800-72750800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:72745800-72750800	Active TSS	Brain Substantia Nigra	brain
11	chr1:72745800-72751200	Active TSS	Colon Smooth Muscle	Colon
12	chr1:72745800-72751400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:72745800-72751400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:72746000-72751400	Active TSS	Brain Anterior Caudate	brain
15	chr1:72746000-72751400	Active TSS	NHLF	lung
16	chr1:72746400-72748000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:72746400-72750800	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:72746400-72751000	Active TSS	HSMMtube	muscle
19	chr1:72746600-72748200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:72746600-72750000	Active TSS	HSMM	muscle
21	chr1:72746600-72750800	Active TSS	Psoas Muscle	Psoas
22	chr1:72746600-72751000	Active TSS	Fetal Stomach	stomach
23	chr1:72746800-72747800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:72746800-72747800	Active TSS	Fetal Muscle Trunk	muscle
25	chr1:72746800-72747800	Flanking Active TSS	NH-A	brain
26	chr1:72746800-72748000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:72746800-72748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:72746800-72750200	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:72746800-72751000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr1:72746800-72751400	Active TSS	Aorta	Aorta
31	chr1:72746800-72751600	Active TSS	NHDF-Ad	bronchial
32	chr1:72747000-72747800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:72747000-72747800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:72747000-72748200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr1:72747000-72748200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:72747000-72748200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr1:72747000-72748400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:72747000-72750600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
39	chr1:72747000-72750600	Active TSS	Hela-S3	cervix
40	chr1:72747000-72750800	Active TSS	Left Ventricle	heart
41	chr1:72747200-72748600	Bivalent/Poised TSS	Fetal Lung	lung
42	chr1:72747200-72750000	Active TSS	Osteobl	bone
43	chr1:72747200-72750400	Active TSS	Fetal Kidney	kidney
44	chr1:72747200-72751000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr1:72747200-72751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:72747200-72751400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:72747200-72751800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:72747400-72747800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:72747400-72747800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:72747400-72747800	Flanking Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links