Variant report

Variant	rs2002228
Chromosome Location	chr11:113390122-113390123
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	chr11:113389338..113392133-chr11:113400005..113402461,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10789943	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10789944	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10789945	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10891550	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10891551	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10891552	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10891556	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10891561	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10891562	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10891563	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10891565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11214611	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11214618	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11214620	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11214621	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11214632	0.93[ASN][1000 genomes]
rs11214633	0.94[ASN][1000 genomes]
rs11214635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421616	0.85[ASN][1000 genomes]
rs2002229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245149	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4350392	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4447205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548655	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648317	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4938019	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4938026	0.94[ASN][1000 genomes]
rs55887984	0.85[ASN][1000 genomes]
rs7117915	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7122454	0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes]
rs7479729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv3428809	chr11:113385882-113391085	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2002228	RBM7	cis	cerebellum	SCAN
rs2002228	CRYAB	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113386200-113390400	Weak transcription	NHEK	skin
2	chr11:113390000-113391400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:113390000-113391400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr11:113390000-113391400	Enhancers	HMEC	breast
5	chr11:113390000-113393200	Enhancers	HSMM	muscle

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