Variant report

Variant	rs6977654
Chromosome Location	chr7:19960593-19960594
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10226448	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10226787	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10229052	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10230054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233274	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10242012	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10243275	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10243855	0.80[EUR][1000 genomes]
rs10245082	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10245287	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10248922	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10249779	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10250128	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10258669	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10261330	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10265569	0.83[AMR][1000 genomes]
rs10266457	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10271196	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10272491	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276105	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10277995	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12530927	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12539212	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12670320	0.80[AFR][1000 genomes]
rs12672377	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12672567	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13228331	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13228500	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13228531	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13239768	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13241328	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13307910	0.89[JPT][hapmap]
rs17142178	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2214319	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2214320	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2390203	0.80[EUR][1000 genomes]
rs28852390	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2892957	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34292170	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34359626	0.80[EUR][1000 genomes]
rs36157620	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36200915	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4994101	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4994102	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs58159256	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6461466	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6946403	0.95[JPT][hapmap]
rs6977047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73267155	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7779502	0.88[AMR][1000 genomes]
rs7780131	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7789051	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7796408	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7796434	0.87[AMR][1000 genomes]
rs879661	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs879662	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9654951	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9654952	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9654953	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9655183	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9655184	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9655185	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9655186	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]

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	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv1847477	chr7:19778086-19970584	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv887826	chr7:19816240-20033899	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1844137	chr7:19862221-19970584	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19954800-19973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:19956400-19988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:19958600-19960800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:19958600-19961200	Enhancers	Fetal Lung	lung
5	chr7:19959000-19960800	Enhancers	HUVEC	blood vessel
6	chr7:19959400-19960600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:19959400-19960800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:19959400-19960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:19959600-19961200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:19959800-19960600	Enhancers	NHLF	lung
11	chr7:19959800-19960800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:19960000-19960600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:19960000-19960800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:19960000-19960800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:19960000-19983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:19960200-19960800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:19960400-19961200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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