Variant report

Variant	rs6447982
Chromosome Location	chr4:20760238-20760239
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20759824..20762284-chr4:20763447..20765411,2	K562	blood:
2	chr4:20758225..20761110-chr4:20761707..20763289,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10017693	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10018931	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10022322	0.83[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10024002	0.84[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10025286	0.81[EUR][1000 genomes]
rs10034054	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10084802	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10805219	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10938801	0.93[YRI][hapmap]
rs11941041	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11944886	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12152652	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12331966	0.84[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12641748	0.86[CHB][hapmap]
rs12644782	0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12650007	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16869886	0.81[EUR][1000 genomes]
rs16869889	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1985322	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2052775	0.84[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2114472	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2114473	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2162413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288308	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2322688	0.92[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28524474	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs28637181	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28714128	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28788006	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3764964	0.84[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3764965	0.97[YRI][hapmap]
rs3764966	0.84[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3815872	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3816874	0.91[YRI][hapmap]
rs4414951	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4431223	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4510461	0.83[AFR][1000 genomes]
rs4640668	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55847423	0.95[ASN][1000 genomes]
rs57740160	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59335491	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62410159	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6447974	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6447975	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447976	0.80[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6447978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6811030	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6811505	0.83[CEU][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6817475	0.96[CEU][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6831295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6831516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7655154	0.84[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7660006	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7666288	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7673805	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7674453	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7681691	0.83[CEU][hapmap];0.89[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7685481	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7689421	0.90[YRI][hapmap]
rs7694208	0.90[YRI][hapmap]
rs7696618	0.83[AFR][1000 genomes]
rs990206	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995438	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9995697	0.84[CEU][hapmap];0.88[YRI][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	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv1848625	chr4:20760089-20821762	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20739200-20761200	Weak transcription	Fetal Heart	heart
2	chr4:20740600-20763600	Weak transcription	Brain Anterior Caudate	brain
3	chr4:20740800-20763600	Weak transcription	HSMMtube	muscle
4	chr4:20740800-20770600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:20740800-20791200	Weak transcription	Ovary	ovary
6	chr4:20746800-20761400	Weak transcription	Aorta	Aorta
7	chr4:20746800-20775000	Weak transcription	Left Ventricle	heart
8	chr4:20749600-20763800	Weak transcription	Brain Germinal Matrix	brain
9	chr4:20753000-20760400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:20755800-20761600	Weak transcription	Fetal Lung	lung
11	chr4:20757000-20763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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