Variant report

Variant	rs9992651
Chromosome Location	chr4:88232510-88232511
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	chr4:88187820..88189394-chr4:88231187..88233154,2	MCF-7	breast:
2	chr4:88224415..88227242-chr4:88231505..88233396,2	K562	blood:

Variant related genes	Relation type
ENSG00000250572	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10004027	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs10022237	0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs10028111	0.85[ASN][1000 genomes]
rs10028441	0.90[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs10029254	1.00[YRI][hapmap]
rs10032386	1.00[YRI][hapmap]
rs10032710	1.00[YRI][hapmap]
rs10034849	1.00[YRI][hapmap]
rs10084835	0.86[CHD][hapmap]
rs10433879	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10433937	0.94[CHD][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10440365	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11732896	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs11735092	0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs13118664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13119654	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13130041	0.82[CEU][hapmap];0.94[CHD][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13150834	0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs28419230	0.80[EUR][1000 genomes]
rs28445336	0.86[ASN][1000 genomes]
rs28456144	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28528308	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28599772	0.86[ASN][1000 genomes]
rs28636836	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28657030	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28830804	0.85[ASN][1000 genomes]
rs4089	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4577539	1.00[YRI][hapmap]
rs57041248	0.85[ASN][1000 genomes]
rs66837437	0.89[ASN][1000 genomes]
rs6850131	0.89[CHD][hapmap]
rs7691791	0.90[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv879527	chr4:88194170-88250203	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv1802846	chr4:88211056-88246450	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88225400-88237800	Strong transcription	Liver	Liver
2	chr4:88228000-88239600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:88228400-88237800	Weak transcription	Hela-S3	cervix
4	chr4:88229000-88235600	Weak transcription	Pancreas	Pancrea
5	chr4:88229000-88245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:88229600-88235800	Weak transcription	Ovary	ovary
7	chr4:88230000-88240000	Weak transcription	Brain Angular Gyrus	brain
8	chr4:88230600-88239600	Weak transcription	Primary T cells from cord blood	blood
9	chr4:88231200-88235600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:88231400-88237400	Weak transcription	Left Ventricle	heart
11	chr4:88231600-88232600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:88231600-88233000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:88232200-88233400	Enhancers	Fetal Heart	heart

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