Variant report

Variant	rs11953643
Chromosome Location	chr5:103404012-103404013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10061144	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10479272	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10515364	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11948800	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11949687	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11952925	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11957443	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13157479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13176730	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13180525	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13184578	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13185515	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35020482	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56031259	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv882524	chr5:103237745-104019292	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1027818	chr5:103318123-103445127	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1019939	chr5:103380722-103770101	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv537836	chr5:103380722-103770101	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1033278	chr5:103383207-103773361	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv882526	chr5:103390664-103478518	Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103401200-103407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:103402000-103404200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:103403800-103405400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr5:103404000-103404400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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