Variant report

Variant	rs2295082
Chromosome Location	chr11:32437677-32437678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32431985..32434925-chr11:32436480..32438156,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10767933	0.92[ASN][1000 genomes]
rs10767935	0.89[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835893	0.92[ASN][1000 genomes]
rs10835896	0.83[CEU][hapmap];0.84[CHB][hapmap]
rs10835900	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835901	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835903	0.87[CEU][hapmap];0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10835905	0.89[CEU][hapmap];0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835906	0.89[CEU][hapmap];0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835907	0.89[CEU][hapmap];0.84[CHB][hapmap]
rs11031754	0.90[JPT][hapmap]
rs11031762	0.83[CEU][hapmap];0.84[CHB][hapmap]
rs11031767	0.83[CHB][hapmap]
rs11031769	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11031770	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11824258	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12290546	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12574749	0.84[CHB][hapmap]
rs16754	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs16923242	0.88[CEU][hapmap];0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1799937	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2234587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818055	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.99[ASN][1000 genomes]
rs3858440	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3858441	0.89[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3858442	0.88[CEU][hapmap];0.84[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3858443	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3858445	0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3901671	0.89[CEU][hapmap];0.84[CHB][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5030201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030203	0.86[JPT][hapmap]
rs5030207	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030317	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5030320	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[ASN][1000 genomes]
rs6484574	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6484575	0.92[ASN][1000 genomes]
rs6484576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6484577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7107082	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108339	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7115190	0.94[ASN][1000 genomes]
rs7116462	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7125543	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7125816	0.88[EUR][1000 genomes]
rs7925851	0.83[CEU][hapmap]
rs7938016	0.89[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7939496	0.83[CEU][hapmap]
rs7951745	0.82[CEU][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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2295082	TCP11L1	cis	cerebellum	SCAN
rs2295082	PRR5L	cis	cerebellum	SCAN
rs2295082	PAMR1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32434000-32442400	Weak transcription	Right Ventricle	heart
2	chr11:32434200-32438000	Weak transcription	Ovary	ovary
3	chr11:32435400-32437800	Weak transcription	K562	blood
4	chr11:32435600-32438000	Weak transcription	Fetal Kidney	kidney
5	chr11:32436400-32441800	Enhancers	Dnd41	blood
6	chr11:32436600-32442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:32436600-32442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:32436800-32438200	Weak transcription	Left Ventricle	heart
9	chr11:32437200-32438800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:32437600-32437800	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:32437600-32438000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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