Variant report

Variant	rs6470694
Chromosome Location	chr8:130083092-130083093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10435553	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435554	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435555	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10448000	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505531	0.86[EUR][1000 genomes]
rs11992003	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12541644	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541935	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543251	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248403	0.91[EUR][1000 genomes]
rs13279328	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16903947	0.86[EUR][1000 genomes]
rs34294444	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34294531	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34495693	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34871599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34892339	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35658327	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35721910	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4289775	0.81[EUR][1000 genomes]
rs4333552	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4385435	0.91[EUR][1000 genomes]
rs4403372	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4493878	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4551306	0.92[EUR][1000 genomes]
rs4566994	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4613963	0.88[AFR][1000 genomes]
rs4733538	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4733672	0.86[EUR][1000 genomes]
rs57797099	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59669561	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470687	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66748173	0.86[AMR][1000 genomes]
rs66879839	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67401439	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67459926	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6989490	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994850	0.92[EUR][1000 genomes]
rs6996806	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998898	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004935	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7013044	0.92[EUR][1000 genomes]
rs73382040	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73382043	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815639	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816364	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7832166	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7832400	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7832457	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7832834	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7833157	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836336	0.92[EUR][1000 genomes]
rs7840107	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843894	0.81[AMR][1000 genomes]
rs9650100	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9650101	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 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	chr8:130074200-130083400	Weak transcription	Thymus	Thymus
2	chr8:130079400-130084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:130081000-130084000	Weak transcription	Pancreas	Pancrea
4	chr8:130081200-130083200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:130081200-130083600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:130081200-130087000	Weak transcription	Right Atrium	heart
7	chr8:130081400-130083200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:130081800-130084600	Weak transcription	NHDF-Ad	bronchial
9	chr8:130082000-130083200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:130082000-130083600	Weak transcription	Spleen	Spleen
11	chr8:130082000-130091400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:130082600-130084000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:130082600-130085200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:130082800-130083600	Weak transcription	Fetal Stomach	stomach
15	chr8:130082800-130087200	Weak transcription	Ovary	ovary
16	chr8:130083000-130083200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:130083000-130083200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:130083000-130083200	Strong transcription	Fetal Thymus	thymus
19	chr8:130083000-130086200	ZNF genes & repeats	Dnd41	blood

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