Variant report

Variant	rs1411441
Chromosome Location	chr9:72210609-72210610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11139414	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11999656	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000827	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12000908	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12001157	0.87[GIH][hapmap]
rs12001803	0.88[GIH][hapmap]
rs12004586	0.88[GIH][hapmap]
rs12006272	0.83[EUR][1000 genomes]
rs12552474	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12553894	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12553941	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12554978	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12555100	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411439	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1411442	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3927537	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4636268	0.87[GIH][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs56654380	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57512468	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58638129	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58667541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58898534	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59791186	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60759202	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7036538	0.83[EUR][1000 genomes]
rs72717199	0.83[EUR][1000 genomes]
rs72719005	0.83[EUR][1000 genomes]
rs72719017	0.83[EUR][1000 genomes]
rs72719024	0.95[EUR][1000 genomes]
rs73647250	0.83[EUR][1000 genomes]
rs73647252	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647254	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647255	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647256	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647261	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73647262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73647263	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73647264	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73647265	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73647266	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7849601	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7861451	0.83[EUR][1000 genomes]
rs7871753	0.87[GIH][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	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1411441	COCH	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72207000-72216600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr9:72207800-72220200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:72208600-72217400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:72209200-72214600	Weak transcription	Ovary	ovary
5	chr9:72209200-72214600	Weak transcription	Right Ventricle	heart
6	chr9:72209200-72219600	Weak transcription	Gastric	stomach
7	chr9:72209400-72211600	Weak transcription	Liver	Liver
8	chr9:72209400-72214200	Weak transcription	Fetal Heart	heart
9	chr9:72209400-72214600	Weak transcription	Right Atrium	heart
10	chr9:72209400-72215000	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:72209800-72217600	Weak transcription	Fetal Lung	lung

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