Variant report

Variant	rs2227973
Chromosome Location	chr11:36597313-36597314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10400354	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10836582	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1105593	0.80[JPT][hapmap]
rs12272732	0.86[AMR][1000 genomes]
rs12293560	0.89[AMR][1000 genomes]
rs12418749	0.87[AMR][1000 genomes]
rs12419177	0.86[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12794469	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12807113	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1498336	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1498338	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16929258	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1818545	0.82[JPT][hapmap]
rs3740961	0.81[CEU][hapmap]
rs3758874	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4325287	0.84[AMR][1000 genomes]
rs59563638	0.90[AMR][1000 genomes]
rs66816307	0.87[AMR][1000 genomes]
rs7104753	0.82[JPT][hapmap]
rs7119197	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7942300	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2227973	CAPRIN1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36586800-36599400	Weak transcription	Liver	Liver
2	chr11:36586800-36600200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:36589800-36600800	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr11:36593200-36597600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:36593200-36600800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
6	chr11:36593600-36598800	Weak transcription	Gastric	stomach
7	chr11:36594800-36598400	Transcr. at gene 5' and 3'	Thymus	Thymus
8	chr11:36595000-36597400	Strong transcription	Spleen	Spleen
9	chr11:36595200-36598200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:36595600-36597600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:36595800-36597400	Weak transcription	Right Ventricle	heart
12	chr11:36595800-36598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:36595800-36600400	Weak transcription	Aorta	Aorta
14	chr11:36596400-36597800	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:36596400-36598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:36596400-36602400	Weak transcription	Pancreas	Pancrea
17	chr11:36596600-36598200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:36596600-36603000	Weak transcription	Left Ventricle	heart
19	chr11:36597000-36602600	Weak transcription	Fetal Intestine Small	intestine

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