Variant report

Variant	rs34871599
Chromosome Location	chr8:130087387-130087388
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	chr8:130086112..130089044-chr8:130090593..130093042,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10105449	0.87[AFR][1000 genomes]
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	0.94[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	0.92[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]
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	0.86[AFR][1000 genomes];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]
rs4636163	0.90[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	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6470694	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66748173	0.86[AMR][1000 genomes]
rs66879839	0.87[AFR][1000 genomes];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	0.95[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]
rs6989798	0.89[AFR][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	0.87[AFR][1000 genomes];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	0.95[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130082000-130091400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:130084200-130087600	Weak transcription	Adipose Nuclei	Adipose
3	chr8:130085400-130089200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:130085800-130089200	Weak transcription	HMEC	breast
6	chr8:130087000-130087400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:130087000-130087400	Enhancers	Right Atrium	heart
8	chr8:130087000-130087800	Enhancers	Fetal Muscle Leg	muscle
9	chr8:130087000-130087800	Genic enhancers	Fetal Thymus	thymus
10	chr8:130087000-130088400	Enhancers	Thymus	Thymus
11	chr8:130087200-130087400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:130087200-130087600	Enhancers	Fetal Stomach	stomach
13	chr8:130087200-130087600	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr8:130087200-130088000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:130087200-130088400	Weak transcription	Fetal Kidney	kidney
16	chr8:130087200-130088400	Enhancers	Ovary	ovary

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