Variant report

Variant	esv3442149
Chromosome Location	chr1:197743379-197745627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:572)
CpG islands
(count:794)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:197744432-197744632	K562	blood:	n/a	n/a
2	ARID3A	chr1:197744472-197745271	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:197743883-197744069	HepG2	liver:	n/a	n/a
4	ATF1	chr1:197744981-197745718	K562	blood:	n/a	n/a
5	ATF2	chr1:197745416-197746301	GM12878	blood:	n/a	n/a
6	ATF2	chr1:197745507-197746223	GM12878	blood:	n/a	n/a
7	ATF2	chr1:197744826-197745189	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr1:197744789-197745123	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr1:197744876-197745151	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr1:197744821-197745227	K562	blood:	n/a	n/a
11	BACH1	chr1:197744259-197744803	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr1:197745469-197746101	GM12878	blood:	n/a	chr1:197745746-197745757 chr1:197745567-197745576
13	BCL3	chr1:197744387-197744765	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:197744142-197744800	GM12878	blood:	n/a	chr1:197744190-197744199
15	BHLHE40	chr1:197743783-197745381	K562	blood:	n/a	n/a
16	BHLHE40	chr1:197744371-197744802	GM12878	blood:	n/a	n/a
17	BRCA1	chr1:197743009-197743971	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr1:197744565-197744747	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr1:197744616-197744627	HepG2	liver:	n/a	n/a
20	CCNT2	chr1:197743854-197744874	K562	blood:	n/a	n/a
21	CEBPB	chr1:197744687-197745340	MCF-7	breast:	n/a	chr1:197745016-197745033
22	CEBPB	chr1:197744856-197745162	K562	blood:	n/a	chr1:197745016-197745033
23	CEBPB	chr1:197744950-197745088	HepG2	liver:	n/a	chr1:197745016-197745033
24	CEBPB	chr1:197744498-197745434	K562	blood:	n/a	chr1:197745016-197745033
25	CEBPB	chr1:197744587-197745222	H1-hESC	embryonic stem cell:	n/a	chr1:197745016-197745033
26	CEBPB	chr1:197744449-197745845	Hela-S3	cervix:	n/a	chr1:197745016-197745033
27	CEBPB	chr1:197745452-197745881	IMR90	lung:	n/a	n/a
28	CEBPB	chr1:197744748-197745266	A549	lung:	n/a	chr1:197745016-197745033
29	CEBPB	chr1:197744645-197745328	MCF-7	breast:	n/a	chr1:197745016-197745033
30	CEBPB	chr1:197744514-197745321	A549	lung:	n/a	chr1:197745016-197745033
31	CEBPB	chr1:197744805-197745216	IMR90	lung:	n/a	chr1:197745016-197745033
32	CEBPB	chr1:197744546-197745480	HepG2	liver:	n/a	chr1:197745016-197745033
33	CEBPB	chr1:197744627-197745573	A549	lung:	n/a	chr1:197745016-197745033
34	CEBPB	chr1:197744431-197745348	ECC-1	luminal epithelium:	n/a	chr1:197745016-197745033
35	CEBPB	chr1:197744814-197745279	ECC-1	luminal epithelium:	n/a	chr1:197745016-197745033
36	CEBPB	chr1:197744755-197745363	K562	blood:	n/a	chr1:197745016-197745033
37	CEBPD	chr1:197744340-197744915	HepG2	liver:	n/a	n/a
38	CHD1	chr1:197744595-197744772	GM12878	blood:	n/a	n/a
39	CHD1	chr1:197743979-197744095	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr1:197744548-197745254	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr1:197744457-197744797	K562	blood:	n/a	n/a
42	CHD2	chr1:197744401-197744886	GM12878	blood:	n/a	n/a
43	CHD2	chr1:197743869-197744069	HepG2	liver:	n/a	n/a
44	CHD2	chr1:197744419-197744824	HepG2	liver:	n/a	n/a
45	CHD2	chr1:197745141-197746113	GM12878	blood:	n/a	n/a
46	CHD2	chr1:197743914-197744082	K562	blood:	n/a	n/a
47	CHD2	chr1:197743889-197745207	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr1:197744257-197744774	A549	lung:	n/a	n/a
49	CREB1	chr1:197743854-197744238	A549	lung:	n/a	n/a
50	CTBP2	chr1:197743943-197745309	H1-hESC	embryonic stem cell:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:197744252-197744302	GM12892	blood:	n/a
2	chr1:197744252-197744302	GM12892	blood:	n/a
3	chr1:197744929-197744979	AG04449	skin:	fetal
4	chr1:197744884-197744934	PrEC	prostate:	n/a
5	chr1:197745159-197745209	PrEC	prostate:	n/a
6	chr1:197744541-197744591	HCPEpiC	choroid plexus:	n/a
7	chr1:197745238-197745288	NB4	blood:	n/a
8	chr1:197744884-197744934	NH-A	brain:	n/a
9	chr1:197744252-197744302	HEK293	kidney:	embryo
10	chr1:197744884-197744934	HAEpiC	amniotic membrane:	n/a
11	chr1:197744757-197744807	SAEC	small airway:	n/a
12	chr1:197744929-197744979	SK-N-MC	brain:	n/a
13	chr1:197744541-197744591	SK-N-SH_RA	brain:	n/a
14	chr1:197743960-197744010	HRE	kidney:	n/a
15	chr1:197744782-197744832	GM12878	blood:	n/a
16	chr1:197744787-197744837	GM12878	blood:	n/a
17	chr1:197745238-197745288	ECC-1	luminal epithelium:	n/a
18	chr1:197745025-197745075	ovcar-3	ovarian:	n/a
19	chr1:197745159-197745209	Hela-S3	cervix:	n/a
20	chr1:197744541-197744591	BJ	skin:	n/a
21	chr1:197745159-197745209	SK-N-SH_RA	brain:	n/a
22	chr1:197744929-197744979	AG04450	lung:	fetal
23	chr1:197745238-197745288	NHBE	bronchial:	n/a
24	chr1:197745025-197745075	MCF10A-Er-Src	breast:	n/a
25	chr1:197743960-197744010	GM12878	blood:	n/a
26	chr1:197743842-197743892	SK-N-SH_RA	brain:	n/a
27	chr1:197744757-197744807	NB4	blood:	n/a
28	chr1:197744929-197744979	U87	brain:	n/a
29	chr1:197744884-197744934	NHBE	bronchial:	n/a
30	chr1:197744757-197744807	AoSMC	blood vessel:	n/a
31	chr1:197744884-197744934	Hela-S3	cervix:	n/a
32	chr1:197744929-197744979	HMEC	breast:	n/a
33	chr1:197744782-197744832	Hela-S3	cervix:	n/a
34	chr1:197745238-197745288	T-47D	breast:	n/a
35	chr1:197743960-197744010	A549	lung:	n/a
36	chr1:197744757-197744807	MCF10A-Er-Src	breast:	n/a
37	chr1:197744226-197744276	GM12892	blood:	n/a
38	chr1:197744541-197744591	SAEC	small airway:	n/a
39	chr1:197744226-197744276	SK-N-SH_RA	brain:	n/a
40	chr1:197744782-197744832	HCT-116	colon:	n/a
41	chr1:197743842-197743892	HEEpiC	esophagus:	n/a
42	chr1:197744757-197744807	HRPEpiC	eye:	n/a
43	chr1:197744541-197744591	Jurkat	blood:	n/a
44	chr1:197744541-197744591	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:197743842-197743892	PFSK-1	brain:	n/a
46	chr1:197744929-197744979	NB4	blood:	n/a
47	chr1:197744226-197744276	Hela-S3	cervix:	n/a
48	chr1:197745238-197745288	PANC-1	pancreas:	n/a
49	chr1:197745025-197745075	Hepatocyte	liver:	n/a
50	chr1:197745025-197745075	K562	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197744558..197746158-chr1:197886522..197888177,2	MCF-7	breast:
2	chr1:197715463..197718268-chr1:197744051..197746586,3	K562	blood:
3	chr1:197715463..197718268-chr1:197744827..197746586,2	K562	blood:
4	chr1:197743551..197744408-chr17:7591641..7592156,2	NB4	blood:
5	chr1:197744364..197744977-chr5:81267510..81268258,2	HCT-116	colon:
6	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:
7	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
8	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:
9	chr1:42800664..42801416-chr1:197743885..197744472,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB41-6	chr1:197743617-197743737	NONHSAT008631

No data

Variant related genes	Relation type
DENND1B	TF binding region
DENND1B	CpG island
ENSG00000233040	chromatin interactions
ENSG00000143355	chromatin interactions
ENSG00000203724	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000198815	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574091577	chr1:197743429-197743430	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199744638	chr1:197743430-197743431	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150865088	chr1:197743454-197743455	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533036432	chr1:197743495-197743496	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139382716	chr1:197743505-197743506	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1539414	chr1:197743506-197743507	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs181733738	chr1:197743510-197743511	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546717522	chr1:197743528-197743529	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117907980	chr1:197743627-197743628	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs535670712	chr1:197743694-197743695	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs112330505	chr1:197743716-197743717	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs541389681	chr1:197743734-197743735	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs569539542	chr1:197743763-197743764	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146643984	chr1:197743785-197743786	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs558417483	chr1:197743795-197743796	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs187383147	chr1:197743804-197743805	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs190556007	chr1:197743910-197743911	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs533744677	chr1:197743995-197743996	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs377393789	chr1:197744014-197744015	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs531267135	chr1:197744019-197744020	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs544405355	chr1:197744053-197744054	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs117405403	chr1:197744098-197744099	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374685193	chr1:197744154-197744155	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs545009757	chr1:197744218-197744219	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs559934138	chr1:197744255-197744256	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs560373475	chr1:197744260-197744261	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs549950873	chr1:197744279-197744280	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs143130819	chr1:197744346-197744347	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs529303413	chr1:197744349-197744350	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs551052659	chr1:197744364-197744365	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs79734618	chr1:197744379-197744380	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs533553009	chr1:197744432-197744433	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs551812152	chr1:197744440-197744441	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs567139797	chr1:197744445-197744446	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs12754906	chr1:197744517-197744518	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs533784567	chr1:197744519-197744520	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs555361367	chr1:197744562-197744563	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs567371348	chr1:197744593-197744594	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs537589389	chr1:197744648-197744649	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs556209991	chr1:197744664-197744665	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs577791284	chr1:197744683-197744684	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs200338752	chr1:197744754-197744755	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs553667202	chr1:197744758-197744759	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs79658043	chr1:197744809-197744810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs540238776	chr1:197744813-197744814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs561794528	chr1:197744863-197744864	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs529242317	chr1:197744881-197744882	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs114353656	chr1:197744887-197744888	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs377007406	chr1:197744893-197744894	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs562977121	chr1:197744912-197744913	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
2	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
3	chr1:197714600-197743600	Weak transcription	Ovary	ovary
4	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:197735200-197743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:197737400-197743600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:197739000-197743600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:197740400-197743800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:197740600-197743400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:197740600-197743400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:197740800-197743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:197741200-197743400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:197741800-197743600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:197742000-197743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:197742000-197743800	Weak transcription	Left Ventricle	heart
16	chr1:197742000-197743800	Weak transcription	Lung	lung
17	chr1:197742000-197743800	Weak transcription	Pancreas	Pancrea
18	chr1:197742200-197743600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:197742200-197743800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr1:197742200-197743800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:197742400-197743400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr1:197742400-197743400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:197742400-197743400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:197742400-197743400	Flanking Active TSS	Fetal Brain Female	brain
25	chr1:197742400-197743600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:197742400-197743800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:197742400-197744000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:197742400-197744000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:197742400-197744000	Active TSS	Right Atrium	heart
30	chr1:197742400-197744800	Active TSS	Colonic Mucosa	Colon
31	chr1:197742400-197745000	Active TSS	Brain Anterior Caudate	brain
32	chr1:197742400-197745000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:197742600-197743400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr1:197742600-197743400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:197742600-197743400	Weak transcription	Psoas Muscle	Psoas
36	chr1:197742600-197743400	Flanking Active TSS	Hela-S3	cervix
37	chr1:197742600-197743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:197742600-197743800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:197742600-197743800	Weak transcription	Gastric	stomach
40	chr1:197742600-197743800	Weak transcription	Small Intestine	intestine
41	chr1:197742600-197743800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:197742600-197743800	Flanking Active TSS	Osteobl	bone
43	chr1:197742600-197744600	Active TSS	Thymus	Thymus
44	chr1:197742600-197744800	Active TSS	K562	blood
45	chr1:197742600-197744800	Active TSS	NHLF	lung
46	chr1:197742600-197745000	Active TSS	Aorta	Aorta
47	chr1:197742800-197743400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:197742800-197743400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:197742800-197743400	Enhancers	Brain Hippocampus Middle	brain
50	chr1:197742800-197743600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links