Variant report

Variant	rs6656738
Chromosome Location	chr1:213120185-213120186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:213120115-213120512	GM12891	blood:	n/a	chr1:213120297-213120306
2	FOXM1	chr1:213120168-213120544	GM12878	blood:	n/a	n/a
3	TCF3	chr1:213120112-213120458	GM12878	blood:	n/a	n/a
4	GATA3	chr1:213119661-213120189	MCF-7	breast:	n/a	n/a
5	NFIC	chr1:213120100-213120573	GM12878	blood:	n/a	n/a
6	SPI1	chr1:213119939-213120600	GM12878	blood:	n/a	chr1:213120297-213120306
7	IKZF1	chr1:213119994-213120565	GM12878	blood:	n/a	n/a
8	MTA3	chr1:213120109-213120558	GM12878	blood:	n/a	n/a
9	RUNX3	chr1:213120174-213120469	GM12878	blood:	n/a	n/a
10	ATF2	chr1:213120109-213120594	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:213120185-213120235	ovcar-3	ovarian:	n/a
2	chr1:213120185-213120235	NH-A	brain:	n/a
3	chr1:213120185-213120235	GM19239	blood:	n/a
4	chr1:213120185-213120235	HL-60	blood:	n/a
5	chr1:213120185-213120235	LNCaP	prostate:	n/a
6	chr1:213120185-213120235	AG04450	lung:	fetal
7	chr1:213120185-213120235	AG09319	gingival:	n/a
8	chr1:213120185-213120235	SKMC	muscle:	n/a
9	chr1:213120185-213120235	HCF	heart:	n/a
10	chr1:213120185-213120235	HEEpiC	esophagus:	n/a
11	chr1:213120185-213120235	GM06990	blood:	n/a
12	chr1:213120185-213120235	HCT-116	colon:	n/a
13	chr1:213120185-213120235	HRCEpiC	kidney:	n/a
14	chr1:213120185-213120235	AG04449	skin:	fetal
15	chr1:213120185-213120235	SK-N-SH_RA	brain:	n/a
16	chr1:213120185-213120235	SAEC	small airway:	n/a
17	chr1:213120185-213120235	AG10803	skin:	n/a
18	chr1:213120185-213120235	RPTEC	kidney:	n/a
19	chr1:213120185-213120235	HRE	kidney:	n/a
20	chr1:213120185-213120235	NHDF-neo	bronchial:	n/a
21	chr1:213120185-213120235	H1-hESC	embryonic stem cell:	embryo
22	chr1:213120185-213120235	BJ	skin:	n/a
23	chr1:213120185-213120235	SK-N-SH	brain:	n/a
24	chr1:213120185-213120235	HRPEpiC	eye:	n/a
25	chr1:213120185-213120235	AoSMC	blood vessel:	n/a
26	chr1:213120185-213120235	Hela-S3	cervix:	n/a
27	chr1:213120185-213120235	U87	brain:	n/a
28	chr1:213120185-213120235	HAEpiC	amniotic membrane:	n/a
29	chr1:213120185-213120235	ECC-1	luminal epithelium:	n/a
30	chr1:213120185-213120235	Hepatocyte	liver:	n/a
31	chr1:213120185-213120235	HUVEC	blood vessel:	n/a
32	chr1:213120185-213120235	GM12891	blood:	n/a
33	chr1:213120185-213120235	A549	lung:	n/a
34	chr1:213120185-213120235	K562	blood:	n/a
35	chr1:213120185-213120235	NB4	blood:	n/a
36	chr1:213120185-213120235	IMR90	lung:	fetal
37	chr1:213120185-213120235	MCF10A-Er-Src	breast:	n/a
38	chr1:213120185-213120235	HCPEpiC	choroid plexus:	n/a
39	chr1:213120185-213120235	HIPEpiC	eye:	n/a
40	chr1:213120185-213120235	NHBE	bronchial:	n/a
41	chr1:213120185-213120235	ProgFib	skin:	n/a
42	chr1:213120185-213120235	Caco-2	colon:	n/a
43	chr1:213120185-213120235	GM12878	blood:	n/a
44	chr1:213120185-213120235	HCM	heart:	n/a
45	chr1:213120185-213120235	AG09309	skin:	n/a
46	chr1:213120185-213120235	PANC-1	pancreas:	n/a
47	chr1:213120185-213120235	PrEC	prostate:	n/a
48	chr1:213120185-213120235	GM12892	blood:	n/a
49	chr1:213120185-213120235	MCF-7	breast:	n/a
50	chr1:213120185-213120235	T-47D	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213098539..213100855-chr1:213119235..213121922,2	K562	blood:
2	chr1:213118180..213120592-chr1:213121155..213123228,2	K562	blood:
3	chr1:213114346..213116159-chr1:213119479..213121758,2	K562	blood:
4	chr1:213116193..213121548-chr1:213122563..213128196,5	K562	blood:

No data

Variant related genes	Relation type
VASH2	TF binding region
VASH2	CpG island
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17020046	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17020048	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs58826561	0.89[EUR][1000 genomes]
rs59252582	0.93[EUR][1000 genomes]
rs6656706	0.81[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6667192	0.90[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs6674283	0.89[EUR][1000 genomes]
rs6680470	0.90[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73084226	0.96[ASN][1000 genomes]
rs903802	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949932	1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9662838	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213116000-213121200	Enhancers	GM12878-XiMat	blood
2	chr1:213116400-213123400	Weak transcription	Right Atrium	heart
3	chr1:213118800-213120800	Enhancers	Primary B cells from cord blood	blood
4	chr1:213119400-213120200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:213119400-213120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:213119600-213120200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:213119600-213120400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:213119600-213120400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:213119600-213121200	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:213119800-213120200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:213119800-213120200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:213120000-213120400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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