Variant report

Variant	rs8177215
Chromosome Location	chr3:133472958-133472959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133300041..133302235-chr3:133472033..133474036,2	K562	blood:
2	chr3:133465852..133469783-chr3:133471795..133476120,4	K562	blood:
3	chr3:133472488..133475139-chr3:133486239..133489016,2	K562	blood:

Variant related genes	Relation type
ENSG00000091513	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10935083	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11717407	0.80[EUR][1000 genomes]
rs16840751	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16840812	0.82[JPT][hapmap]
rs1799852	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2718796	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs4532136	0.92[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4582061	0.80[EUR][1000 genomes]
rs4854754	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4854757	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177181	0.82[JPT][hapmap]
rs8177184	0.82[JPT][hapmap]
rs8177185	0.92[CHB][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177186	0.92[CHB][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177203	0.92[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177235	0.83[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9847885	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised 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	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv877507	chr3:133465201-133473516	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133466800-133476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133469400-133473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:133469600-133473000	Weak transcription	NHEK	skin
5	chr3:133469600-133473400	Weak transcription	Adipose Nuclei	Adipose
6	chr3:133469600-133473800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:133469600-133474400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:133469600-133476400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:133471200-133473800	Genic enhancers	Liver	Liver
10	chr3:133471400-133473000	Genic enhancers	Brain Anterior Caudate	brain
11	chr3:133471400-133474800	Genic enhancers	Brain Substantia Nigra	brain
12	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:133471800-133474000	Genic enhancers	Brain Hippocampus Middle	brain
14	chr3:133471800-133477000	Genic enhancers	Brain Cingulate Gyrus	brain
15	chr3:133472000-133473200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:133472000-133473400	Genic enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:133472000-133474800	Enhancers	K562	blood
18	chr3:133472000-133476400	Enhancers	Esophagus	oesophagus
19	chr3:133472200-133473200	Strong transcription	HepG2	liver
20	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
21	chr3:133472800-133473600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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