Variant report

Variant	rs4000962
Chromosome Location	chr2:168031396-168031397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10451542	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1155284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1155285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11888230	0.86[EUR][1000 genomes]
rs11893404	0.89[EUR][1000 genomes]
rs11902653	0.84[EUR][1000 genomes]
rs1479592	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16853050	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16853057	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16853217	0.83[EUR][1000 genomes]
rs55733637	0.90[EUR][1000 genomes]
rs58616240	0.89[EUR][1000 genomes]
rs59504679	0.81[EUR][1000 genomes]
rs6432979	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66701411	0.84[EUR][1000 genomes]
rs67074513	0.86[EUR][1000 genomes]
rs6711844	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6720352	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6720763	0.83[EUR][1000 genomes]
rs67386767	0.89[EUR][1000 genomes]
rs67485531	0.81[EUR][1000 genomes]
rs67726376	0.90[EUR][1000 genomes]
rs73017939	0.86[EUR][1000 genomes]
rs7569147	0.82[EUR][1000 genomes]
rs7575729	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585061	0.81[EUR][1000 genomes]
rs7597463	0.81[EUR][1000 genomes]
rs988445	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs998899	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers 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	2 gene(s)	inside rSNPs	n/a
4	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168016200-168034200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:168030400-168032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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