Variant report

Variant	rs6819917
Chromosome Location	chr4:165981142-165981143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11937305	0.87[ASN][1000 genomes]
rs11942701	0.91[ASN][1000 genomes]
rs12499237	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12511399	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13114215	0.91[ASN][1000 genomes]
rs13131689	0.87[ASN][1000 genomes]
rs17045936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396916	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59423267	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6536888	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6826711	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827932	0.87[CEU][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes]
rs6837162	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6852992	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854430	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6854474	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv1835468	chr4:165969625-166023258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
8	esv1840053	chr4:165969625-166023258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
9	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165973600-165987000	Weak transcription	Right Atrium	heart
2	chr4:165979000-166005600	Weak transcription	Pancreas	Pancrea
3	chr4:165979200-165982200	Enhancers	Fetal Muscle Leg	muscle
4	chr4:165979200-165995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:165980000-165982200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:165980400-165981400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:165980400-165981600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:165980400-165982200	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:165980400-166000400	Weak transcription	Brain Angular Gyrus	brain
10	chr4:165980600-166005800	Weak transcription	Aorta	Aorta
11	chr4:165980600-166007000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:165981000-165981600	Weak transcription	HSMMtube	muscle
13	chr4:165981000-165982200	Weak transcription	HSMM	muscle
14	chr4:165981000-165996800	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:165981000-165997400	Weak transcription	Brain Anterior Caudate	brain
16	chr4:165981000-165999000	Weak transcription	Brain Substantia Nigra	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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