Variant report

Variant	rs6814183
Chromosome Location	chr4:20812180-20812181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10002199	0.81[CEU][hapmap]
rs10050041	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11940825	0.87[YRI][hapmap]
rs12650898	0.82[AFR][1000 genomes]
rs1491363	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491364	0.82[AFR][1000 genomes]
rs1546065	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs16869962	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16869987	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16869989	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1863632	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1907497	0.87[YRI][hapmap]
rs28581620	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613514	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3857162	1.00[YRI][hapmap]
rs4697185	0.84[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6843196	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs7695244	0.84[YRI][hapmap]
rs7696638	0.84[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9998730	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv1848625	chr4:20760089-20821762	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20810800-20812400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:20810800-20812600	Enhancers	NHEK	skin
3	chr4:20811000-20812200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:20811000-20812400	Enhancers	HMEC	breast
5	chr4:20811600-20812200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:20812000-20812200	Enhancers	Brain Substantia Nigra	brain
7	chr4:20812000-20812200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:20812000-20814400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:20812000-20814600	Weak transcription	Colon Smooth Muscle	Colon

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