Variant report

Variant	rs41780
Chromosome Location	chr7:116482219-116482220
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	chr7:116481676..116485243-chr7:116485574..116491618,7	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10435378	0.88[LWK][hapmap]
rs1049618	0.82[ASW][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap]
rs11766819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12154364	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16945	0.81[LWK][hapmap]
rs183642	1.00[LWK][hapmap]
rs193688	0.81[LWK][hapmap]
rs2237717	0.88[LWK][hapmap]
rs2299439	0.88[LWK][hapmap]
rs38859	0.88[LWK][hapmap]
rs41735	1.00[LWK][hapmap]
rs41736	0.81[LWK][hapmap]
rs41737	0.81[LWK][hapmap]
rs41738	0.81[LWK][hapmap]
rs41739	0.81[LWK][hapmap]
rs41743	0.81[JPT][hapmap]
rs41746	0.81[LWK][hapmap]
rs41751	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41752	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs41753	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41756	0.90[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41757	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41759	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41760	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41761	0.92[ASN][1000 genomes]
rs41763	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41764	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41765	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41766	0.92[ASN][1000 genomes]
rs41767	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41768	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41769	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41772	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41777	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41785	0.87[EUR][1000 genomes]
rs41790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41794	0.86[EUR][1000 genomes]
rs42336	0.81[LWK][hapmap]
rs42337	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42383	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56355906	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6566	0.81[LWK][hapmap]
rs964449	0.82[ASW][hapmap];0.80[CHD][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap]

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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41780	CAV2	cis	lymphoblastoid	seeQTL
rs41780	CASP4	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116472000-116483400	Weak transcription	Right Atrium	heart
2	chr7:116480400-116483400	Weak transcription	Pancreas	Pancrea
3	chr7:116480600-116485600	Weak transcription	Liver	Liver
4	chr7:116481600-116483600	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:116481800-116484000	Enhancers	Primary B cells from cord blood	blood
6	chr7:116482200-116482800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:116482200-116483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:116482200-116483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:116482200-116483400	Enhancers	Primary monocytes fromperipheralblood	blood

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