Variant report

Variant	rs913819
Chromosome Location	chr8:132044939-132044940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10097729	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109398	0.86[EUR][1000 genomes]
rs1023095	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1028945	0.86[EUR][1000 genomes]
rs10956570	0.82[EUR][1000 genomes]
rs11989347	0.86[EUR][1000 genomes]
rs11997256	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12549392	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674631	0.81[EUR][1000 genomes]
rs12678691	0.82[EUR][1000 genomes]
rs13258076	0.81[EUR][1000 genomes]
rs13265695	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1329797	0.83[EUR][1000 genomes]
rs1329798	0.84[EUR][1000 genomes]
rs1329804	0.82[EUR][1000 genomes]
rs1411179	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1411180	0.84[EUR][1000 genomes]
rs1411182	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1411186	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1411187	0.83[EUR][1000 genomes]
rs1556163	0.84[EUR][1000 genomes]
rs1590868	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1590869	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1888082	0.86[EUR][1000 genomes]
rs2210061	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28508149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4376482	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4388440	0.86[EUR][1000 genomes]
rs4389912	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4392877	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4403388	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4407864	0.85[EUR][1000 genomes]
rs4736731	0.86[EUR][1000 genomes]
rs4736734	0.86[EUR][1000 genomes]
rs4736735	0.85[EUR][1000 genomes]
rs6470877	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6470878	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470882	0.86[EUR][1000 genomes]
rs6470883	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6983987	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6984356	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988204	0.81[CEU][hapmap]
rs7004104	0.94[EUR][1000 genomes]
rs7007726	0.80[EUR][1000 genomes]
rs7832434	0.84[EUR][1000 genomes]
rs7835943	0.83[EUR][1000 genomes]
rs7840086	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7841164	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs884102	0.80[EUR][1000 genomes]
rs928137	0.86[EUR][1000 genomes]
rs928138	0.86[EUR][1000 genomes]
rs932904	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs959204	0.86[EUR][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	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761471	chr8:131963290-132281905	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891449	chr8:132011279-132128690	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132040200-132051000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:132043400-132045000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:132043600-132045400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:132043600-132046000	Enhancers	Fetal Kidney	kidney
5	chr8:132043800-132045000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:132043800-132045800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:132043800-132046000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:132043800-132047200	Enhancers	Fetal Heart	heart
9	chr8:132043800-132048000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:132044000-132046600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:132044200-132045000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:132044200-132045000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:132044200-132045600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:132044200-132045800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:132044200-132047000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:132044400-132045200	Enhancers	NH-A	brain
17	chr8:132044400-132046000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:132044400-132046200	Enhancers	Fetal Brain Male	brain
19	chr8:132044600-132045000	Enhancers	NHDF-Ad	bronchial
20	chr8:132044600-132045400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:132044600-132045400	Enhancers	HSMM	muscle
22	chr8:132044600-132045400	Enhancers	HSMMtube	muscle
23	chr8:132044600-132045800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:132044800-132045000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:132044800-132045200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:132044800-132045400	Weak transcription	Fetal Brain Female	brain

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