Variant report

Variant	rs6957751
Chromosome Location	chr7:126962488-126962489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126085913-126088095..7:126960843-126968648	GM12878	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10243318	1.00[CHB][hapmap]
rs10250993	1.00[CHB][hapmap]
rs10272297	1.00[YRI][hapmap]
rs11563330	1.00[CHB][hapmap]
rs11563331	0.80[ASN][1000 genomes]
rs11563457	1.00[CHB][hapmap]
rs11563465	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[LWK][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs11563640	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[LWK][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs12533653	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12535410	1.00[CHB][hapmap]
rs12706781	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12706782	1.00[CHB][hapmap]
rs12706793	1.00[CHB][hapmap]
rs12706794	1.00[CHB][hapmap]
rs13222357	1.00[CHB][hapmap]
rs13223068	1.00[CHB][hapmap]
rs13234675	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13236819	0.89[ASN][1000 genomes]
rs13239338	0.83[ASN][1000 genomes]
rs13239894	0.83[ASN][1000 genomes]
rs1345206	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1361941	1.00[YRI][hapmap]
rs1557639	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs17862361	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17862375	1.00[CHB][hapmap]
rs17864191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17864199	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17864200	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17864202	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17864920	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17867841	1.00[CHB][hapmap]
rs1819774	0.83[ASN][1000 genomes]
rs2106175	0.83[ASN][1000 genomes]
rs2402856	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs62468916	0.83[ASN][1000 genomes]
rs6467120	1.00[YRI][hapmap]
rs6978075	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9632759	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv967497	chr7:126958676-126966982	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6957751	KLF14	cis	cerebellum	SCAN
rs6957751	OPN1SW	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126961400-126962600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:126961600-126963400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:126961600-126963600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr7:126961800-126962800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:126961800-126963600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:126962000-126963000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:126962000-126963200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr7:126962000-126963600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:126962400-126962600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:126962400-126962600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:126962400-126963000	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links