Variant report

Variant	rs4943983
Chromosome Location	chr11:87108509-87108510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87106327..87109155-chr11:87112236..87113885,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10501636	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10792943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs10792944	0.91[ASN][1000 genomes]
rs10898669	0.85[YRI][hapmap]
rs10898673	0.84[ASN][1000 genomes]
rs10898674	0.84[ASN][1000 genomes]
rs10898675	0.84[ASN][1000 genomes]
rs10898677	0.91[ASN][1000 genomes]
rs10898682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235088	0.87[YRI][hapmap]
rs11235104	0.84[ASN][1000 genomes]
rs11235105	0.84[ASN][1000 genomes]
rs11235106	0.84[ASN][1000 genomes]
rs11235107	0.84[ASN][1000 genomes]
rs11235109	0.89[ASN][1000 genomes]
rs11235110	0.91[ASN][1000 genomes]
rs11235119	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11235122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11501862	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11501863	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11604458	0.89[ASN][1000 genomes]
rs12276145	0.87[YRI][hapmap]
rs12281655	0.84[ASN][1000 genomes]
rs12294015	0.89[ASN][1000 genomes]
rs12295057	0.84[ASN][1000 genomes]
rs12295490	0.89[ASN][1000 genomes]
rs12361047	0.84[ASN][1000 genomes]
rs12363349	0.86[YRI][hapmap]
rs12363623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12790362	0.82[YRI][hapmap]
rs2186727	0.82[YRI][hapmap]
rs28395418	0.86[ASN][1000 genomes]
rs4245431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453264	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4471448	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4536247	0.84[ASN][1000 genomes]
rs4944700	0.84[ASN][1000 genomes]
rs4944701	0.89[ASN][1000 genomes]
rs4944704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944705	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7122267	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125381	0.84[ASN][1000 genomes]
rs7938135	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951257	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87105800-87110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:87106200-87108600	Weak transcription	NHEK	skin
3	chr11:87106200-87110000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:87107800-87109200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:87108000-87108600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr11:87108000-87109000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:87108000-87109200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:87108400-87109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:87108400-87109600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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