Variant report

Variant	rs2117211
Chromosome Location	chr11:4795115-4795116
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4794705-4799792..11:5527719-5533869	GM12878	blood:
2	11:4794705-4799792..11:5721056-5732713	K562	blood:
3	11:4794705-4799792..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
4	11:4794705-4799792..11:5700314-5707362	K562	blood:

Variant related genes	Relation type
ENSG00000132274	Chromatin interaction
ENSG00000175520	Chromatin interaction
ENSG00000132256	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1030724	0.81[EUR][1000 genomes]
rs1030725	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1030726	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10768241	0.90[ASN][1000 genomes]
rs10768242	0.90[ASN][1000 genomes]
rs10768244	0.90[ASN][1000 genomes]
rs10836652	0.90[ASN][1000 genomes]
rs10836653	0.90[ASN][1000 genomes]
rs10836654	0.90[ASN][1000 genomes]
rs10836672	0.90[ASN][1000 genomes]
rs10836677	0.90[ASN][1000 genomes]
rs11033795	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11033796	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11033797	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11033800	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11033801	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11033914	0.90[ASN][1000 genomes]
rs11033918	0.90[ASN][1000 genomes]
rs11600780	1.00[ASN][1000 genomes]
rs11601153	1.00[ASN][1000 genomes]
rs11607628	1.00[ASN][1000 genomes]
rs12284164	0.90[ASN][1000 genomes]
rs12286985	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12787156	0.90[ASN][1000 genomes]
rs12787163	0.90[ASN][1000 genomes]
rs12788159	1.00[ASN][1000 genomes]
rs12805337	1.00[ASN][1000 genomes]
rs1347271	0.90[ASN][1000 genomes]
rs1347272	0.90[ASN][1000 genomes]
rs1368816	0.90[ASN][1000 genomes]
rs1368829	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1368830	0.90[ASN][1000 genomes]
rs1433901	1.00[ASN][1000 genomes]
rs1433902	1.00[ASN][1000 genomes]
rs1433903	0.90[ASN][1000 genomes]
rs1433907	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1433908	0.90[ASN][1000 genomes]
rs1433911	1.00[ASN][1000 genomes]
rs1433919	0.90[ASN][1000 genomes]
rs1433920	0.90[ASN][1000 genomes]
rs1433921	1.00[ASN][1000 genomes]
rs1433922	0.90[ASN][1000 genomes]
rs1433923	0.90[ASN][1000 genomes]
rs1433924	0.90[ASN][1000 genomes]
rs1433926	0.90[ASN][1000 genomes]
rs1469751	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469754	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16906303	1.00[ASN][1000 genomes]
rs17228295	1.00[ASN][1000 genomes]
rs1865285	0.82[ASN][1000 genomes]
rs1966653	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1991887	0.90[ASN][1000 genomes]
rs1991888	0.90[ASN][1000 genomes]
rs1991889	0.82[ASN][1000 genomes]
rs2053116	0.90[ASN][1000 genomes]
rs2053117	1.00[ASN][1000 genomes]
rs2412430	0.90[ASN][1000 genomes]
rs2412435	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898969	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36098183	0.90[ASN][1000 genomes]
rs41520952	0.89[ASN][1000 genomes]
rs4382897	0.90[ASN][1000 genomes]
rs4910527	0.90[ASN][1000 genomes]
rs4910528	0.89[ASN][1000 genomes]
rs4910674	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910675	0.85[EUR][1000 genomes]
rs4910681	0.90[ASN][1000 genomes]
rs4910682	0.90[ASN][1000 genomes]
rs4910683	0.90[ASN][1000 genomes]
rs5005347	0.90[ASN][1000 genomes]
rs5005348	0.90[ASN][1000 genomes]
rs5005349	0.90[ASN][1000 genomes]
rs6578528	0.90[ASN][1000 genomes]
rs6578529	0.90[ASN][1000 genomes]
rs6578530	0.90[ASN][1000 genomes]
rs6578531	1.00[ASN][1000 genomes]
rs6578532	0.90[ASN][1000 genomes]
rs6578533	0.90[ASN][1000 genomes]
rs72868750	0.90[ASN][1000 genomes]
rs7930228	0.90[ASN][1000 genomes]
rs7933099	0.90[ASN][1000 genomes]
rs7933109	0.90[ASN][1000 genomes]
rs7933423	0.82[ASN][1000 genomes]
rs7938153	0.90[ASN][1000 genomes]
rs7940131	0.90[ASN][1000 genomes]
rs7941731	0.90[ASN][1000 genomes]
rs7950667	0.90[ASN][1000 genomes]
rs7951201	0.90[ASN][1000 genomes]
rs7952317	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv896915	chr11:4659419-4844393	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv832056	chr11:4673001-4824890	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv896916	chr11:4712353-4806872	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038862	chr11:4758179-4807364	Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1806557	chr11:4778433-4820481	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1809118	chr11:4782207-4843426	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2754427	chr11:4793549-4810364	Enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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