Variant report

Variant	rs1329799
Chromosome Location	chr8:132047356-132047357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10956567	1.00[AFR][1000 genomes]
rs10956568	0.85[ASN][1000 genomes]
rs10956569	0.85[ASN][1000 genomes]
rs1157822	0.85[ASN][1000 genomes]
rs11774179	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774222	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11775729	0.85[ASN][1000 genomes]
rs11776501	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776563	0.85[ASN][1000 genomes]
rs11776645	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11777665	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11778567	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11779286	0.85[ASN][1000 genomes]
rs11781972	0.90[ASN][1000 genomes]
rs11782471	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784371	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784418	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784784	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11787293	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11995961	0.85[ASN][1000 genomes]
rs12677297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12678370	0.85[ASN][1000 genomes]
rs12678403	0.85[ASN][1000 genomes]
rs12679474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680568	0.88[EUR][1000 genomes]
rs13249674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13260940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13276752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13276850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13278083	0.90[ASN][1000 genomes]
rs13281591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1329800	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1329805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904391	0.85[ASN][1000 genomes]
rs16904392	0.85[ASN][1000 genomes]
rs16904393	0.85[ASN][1000 genomes]
rs16904394	0.85[ASN][1000 genomes]
rs16904398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904413	1.00[AMR][1000 genomes]
rs16904417	1.00[AMR][1000 genomes]
rs17615395	0.82[AMR][1000 genomes]
rs2026755	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34359920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34396484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34543428	1.00[AMR][1000 genomes]
rs34620076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35123544	0.85[ASN][1000 genomes]
rs35187535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35361060	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35631183	1.00[AMR][1000 genomes]
rs35687211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35721413	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4389913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4736464	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4736728	1.00[AFR][1000 genomes]
rs59232626	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59808230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59889668	1.00[AMR][1000 genomes]
rs6415525	1.00[AFR][1000 genomes]
rs6415526	1.00[AFR][1000 genomes]
rs6470871	1.00[AFR][1000 genomes]
rs6470872	1.00[AFR][1000 genomes]
rs6470884	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67683764	0.85[ASN][1000 genomes]
rs6980820	0.85[ASN][1000 genomes]
rs7009319	1.00[AFR][1000 genomes]
rs71522600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71522601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71522602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71524503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71524504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71524505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71524513	0.82[AMR][1000 genomes]
rs7465434	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7824237	0.85[ASN][1000 genomes]
rs7840509	0.85[ASN][1000 genomes]
rs867964	0.81[EUR][1000 genomes];1.00[ASN][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132040200-132051000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:132043800-132048000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:132045400-132047400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:132045400-132049000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:132045400-132051000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:132045600-132047600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:132045600-132049400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:132045800-132047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:132045800-132049000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:132046000-132047800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:132046000-132048000	Weak transcription	Fetal Brain Female	brain
12	chr8:132046800-132047800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:132047200-132048800	Weak transcription	Fetal Heart	heart

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