Variant report

Variant	rs6712956
Chromosome Location	chr2:50251332-50251333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50245424..50247273-chr2:50250002..50252375,2	K562	blood:

Variant related genes	Relation type
ENSG00000179915	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12470829	0.84[CEU][hapmap];0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs12478797	0.85[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs12713083	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1363036	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1363052	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1369295	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1369297	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1421567	0.85[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1421569	0.92[CHB][hapmap]
rs1421577	0.85[CEU][hapmap];0.83[CHB][hapmap];0.92[EUR][1000 genomes]
rs1421598	0.86[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1469002	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1469003	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477248	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs1477249	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs1541642	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs1592728	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865490	0.92[EUR][1000 genomes]
rs1895132	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs2193865	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2351149	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2859977	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4583505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4971632	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4971635	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6545137	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs6545144	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6706484	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs6706613	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes]
rs6714990	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761463	0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs7562931	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7596020	0.83[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs930295	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9636391	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs980794	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431002	chr2:50243349-50259749	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1004550	chr2:50250335-50274067	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv581838	chr2:50250758-50274774	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50250400-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:50250800-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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