Variant report

Variant	rs6983503
Chromosome Location	chr8:8852840-8852841
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	chr8:8844681..8846894-chr8:8850207..8853467,3	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10104303	0.86[ASN][1000 genomes]
rs10105455	0.88[ASN][1000 genomes]
rs10113609	0.88[ASN][1000 genomes]
rs1025394	0.89[ASN][1000 genomes]
rs1025395	0.87[ASN][1000 genomes]
rs1036081	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677456	0.90[EUR][1000 genomes]
rs12681075	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265205	0.83[ASN][1000 genomes]
rs17155071	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2044388	0.83[EUR][1000 genomes]
rs2082210	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2084076	0.88[EUR][1000 genomes]
rs2288669	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288670	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288671	0.94[ASN][1000 genomes]
rs2288672	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2409117	0.83[ASN][1000 genomes]
rs2409118	0.84[ASN][1000 genomes]
rs2409119	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28397127	0.93[ASN][1000 genomes]
rs28490389	0.88[ASN][1000 genomes]
rs28693452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915248	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2915251	0.88[ASN][1000 genomes]
rs2915252	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2915253	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921379	0.88[EUR][1000 genomes]
rs2953800	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2953801	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2953808	0.81[EUR][1000 genomes]
rs2953809	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2956242	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2956243	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2979246	0.87[ASN][1000 genomes]
rs2979260	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2979261	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2979262	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2979263	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2979264	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2979265	0.96[ASN][1000 genomes]
rs2979266	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35076339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4081881	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4433148	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472520	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4551361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636210	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840383	0.86[ASN][1000 genomes]
rs4841084	0.81[ASN][1000 genomes]
rs4841085	0.83[EUR][1000 genomes]
rs55654856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57552272	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58254294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58604216	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60664964	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492945	0.88[ASN][1000 genomes]
rs6422353	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67831654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68132987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68159296	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6983008	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983030	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987223	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987558	0.92[ASN][1000 genomes]
rs6990532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993244	0.93[ASN][1000 genomes]
rs7001457	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7001518	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006089	0.89[ASN][1000 genomes]
rs7006526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007290	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7012685	0.90[EUR][1000 genomes]
rs7012954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195758	0.91[EUR][1000 genomes]
rs73195765	0.84[EUR][1000 genomes]
rs73195769	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73195777	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73195780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73518370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357590	0.96[ASN][1000 genomes]
rs7357601	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839585	0.99[ASN][1000 genomes]
rs9644673	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9644696	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs987537	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987538	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8851800-8853200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr8:8851800-8853400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:8852000-8853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:8852000-8853200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:8852000-8853200	Enhancers	Fetal Intestine Large	intestine
7	chr8:8852200-8853200	Enhancers	Fetal Intestine Small	intestine
8	chr8:8852200-8853200	Enhancers	Placenta	Placenta
9	chr8:8852400-8853000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:8852400-8853200	Enhancers	Liver	Liver
11	chr8:8852400-8856000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:8852600-8853000	Enhancers	Adipose Nuclei	Adipose
13	chr8:8852600-8853000	Flanking Active TSS	A549	lung
14	chr8:8852600-8853000	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:8852600-8853200	Enhancers	HepG2	liver
16	chr8:8852800-8853000	Flanking Active TSS	HUVEC	blood vessel
17	chr8:8852800-8853000	Enhancers	K562	blood
18	chr8:8852800-8853200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:8852800-8853200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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