Variant report

Variant	rs34495693
Chromosome Location	chr8:130087860-130087861
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: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10105449	0.91[EUR][1000 genomes]
rs10435553	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435554	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435555	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448000	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1157275	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12541644	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12541935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543251	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13248403	0.86[AFR][1000 genomes]
rs13279328	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1372442	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1372443	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1372453	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34294444	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34294531	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34871599	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34892339	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35658327	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35721910	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236737	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4302810	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4333552	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4371972	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4385435	0.83[AFR][1000 genomes]
rs4493878	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526322	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4551306	0.86[AFR][1000 genomes]
rs4566994	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613963	0.93[EUR][1000 genomes]
rs4636163	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4644199	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4733538	0.87[AFR][1000 genomes]
rs4733672	0.84[AFR][1000 genomes]
rs57797099	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59669561	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470676	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6470677	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6470692	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6470694	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66748173	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs66879839	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67401439	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67459926	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989490	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994850	0.86[AFR][1000 genomes]
rs6996806	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6998898	0.91[AFR][1000 genomes]
rs7004935	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7006185	0.81[AFR][1000 genomes]
rs73382040	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73382043	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816364	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820114	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7832166	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832400	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832457	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832834	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833157	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834731	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7836336	0.87[AFR][1000 genomes]
rs7836429	0.85[EUR][1000 genomes]
rs7840107	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843664	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7843894	0.84[AFR][1000 genomes]
rs9643242	0.80[EUR][1000 genomes]
rs9650100	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650101	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130082000-130091400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:130085400-130089200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:130085800-130089200	Weak transcription	HMEC	breast
5	chr8:130087000-130088400	Enhancers	Thymus	Thymus
6	chr8:130087200-130088000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:130087200-130088400	Weak transcription	Fetal Kidney	kidney
8	chr8:130087200-130088400	Enhancers	Ovary	ovary
9	chr8:130087400-130088400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:130087400-130088600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:130087600-130088000	Enhancers	Adipose Nuclei	Adipose
12	chr8:130087600-130088400	Genic enhancers	Dnd41	blood
13	chr8:130087600-130088600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:130087600-130089200	Weak transcription	Fetal Stomach	stomach
15	chr8:130087800-130088400	Weak transcription	Fetal Thymus	thymus
16	chr8:130087800-130089400	Weak transcription	Fetal Lung	lung
17	chr8:130087800-130089400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:130087800-130089400	Weak transcription	Stomach Smooth Muscle	stomach

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