Variant report

Variant	rs7004935
Chromosome Location	chr8:130083927-130083928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10435553	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10435554	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10435555	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10448000	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10464829	0.91[YRI][hapmap]
rs10505531	0.86[EUR][1000 genomes]
rs11784932	0.91[AFR][1000 genomes]
rs11992003	0.96[EUR][1000 genomes]
rs12541644	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12541935	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12543251	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13248403	0.91[EUR][1000 genomes]
rs13279328	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16903947	0.86[EUR][1000 genomes]
rs34294444	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34294531	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34495693	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34871599	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34892339	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35658327	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35721910	0.85[ASN][1000 genomes]
rs4289775	0.81[EUR][1000 genomes]
rs4333552	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4385435	0.91[EUR][1000 genomes]
rs4403372	0.95[EUR][1000 genomes]
rs4493878	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4551306	0.92[EUR][1000 genomes]
rs4566994	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733538	0.95[EUR][1000 genomes]
rs4733672	0.86[EUR][1000 genomes]
rs55830016	0.85[AFR][1000 genomes]
rs57797099	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59669561	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470687	0.92[EUR][1000 genomes]
rs6470694	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66748173	0.80[AMR][1000 genomes]
rs66879839	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67401439	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67459926	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6989490	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991090	0.91[AFR][1000 genomes]
rs6994850	0.92[EUR][1000 genomes]
rs6996806	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997012	0.89[AFR][1000 genomes]
rs6998898	0.95[EUR][1000 genomes]
rs7013044	0.92[EUR][1000 genomes]
rs73382040	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73382043	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815639	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816364	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7832166	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7832400	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7832457	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7832834	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7833157	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7836336	0.92[EUR][1000 genomes]
rs7840107	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650100	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9650101	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130079400-130084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:130081000-130084000	Weak transcription	Pancreas	Pancrea
3	chr8:130081200-130087000	Weak transcription	Right Atrium	heart
4	chr8:130081800-130084600	Weak transcription	NHDF-Ad	bronchial
5	chr8:130082000-130091400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:130082600-130084000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:130082600-130085200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:130082800-130087200	Weak transcription	Ovary	ovary
9	chr8:130083000-130086200	ZNF genes & repeats	Dnd41	blood
10	chr8:130083200-130084200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:130083200-130084200	Enhancers	Adipose Nuclei	Adipose
12	chr8:130083200-130084200	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr8:130083200-130084200	ZNF genes & repeats	Fetal Thymus	thymus
14	chr8:130083200-130084800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:130083400-130084200	ZNF genes & repeats	Thymus	Thymus
16	chr8:130083600-130084000	Enhancers	Esophagus	oesophagus
17	chr8:130083600-130084200	ZNF genes & repeats	Fetal Stomach	stomach
18	chr8:130083600-130084200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:130083600-130084200	ZNF genes & repeats	Spleen	Spleen
20	chr8:130083800-130085600	Enhancers	NHEK	skin

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