Variant report

Variant	rs7948751
Chromosome Location	chr11:36741120-36741121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10400354	0.89[EUR][1000 genomes]
rs10734444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836582	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs12272732	0.93[EUR][1000 genomes]
rs12293560	0.94[EUR][1000 genomes]
rs12418749	0.94[EUR][1000 genomes]
rs12419177	0.89[EUR][1000 genomes]
rs12807113	0.89[EUR][1000 genomes]
rs1498336	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1498338	0.82[EUR][1000 genomes]
rs16929258	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2227973	0.91[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs3758874	0.91[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs4325287	0.95[EUR][1000 genomes]
rs59563638	0.92[EUR][1000 genomes]
rs6484872	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484873	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66816307	0.94[EUR][1000 genomes]
rs7119197	0.90[CEU][hapmap]
rs7949234	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
4	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1047073	chr11:36711638-36812910	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1041508	chr11:36711638-36815367	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1043391	chr11:36711638-36817144	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv554007	chr11:36711834-36825618	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv11137	chr11:36730247-36788022	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv2761663	chr11:36730335-36786817	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7948751	CAPRIN1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36736400-36744000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:36738600-36741200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr11:36739000-36741400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr11:36739200-36742000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:36739800-36742000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:36740200-36741200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr11:36740200-36741400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:36740600-36741200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:36740600-36741600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr11:36740800-36741400	Enhancers	Fetal Stomach	stomach
11	chr11:36740800-36741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:36741000-36741600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr11:36741000-36741800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:36741000-36741800	Enhancers	Ovary	ovary

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