Variant report

Variant	rs8177220
Chromosome Location	chr3:133473625-133473626
allele	G/T
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	chr3:133425971..133428369-chr3:133473525..133475765,2	MCF-7	breast:
4	chr3:133472488..133475139-chr3:133486239..133489016,2	K562	blood:

Variant related genes	Relation type
ENSG00000091513	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1373551	1.00[JPT][hapmap]
rs1800276	0.81[ASN][1000 genomes]
rs1800277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2718804	1.00[JPT][hapmap]
rs2887747	1.00[JPT][hapmap]
rs41295778	0.88[ASN][1000 genomes]
rs4854588	1.00[JPT][hapmap]
rs4854739	1.00[JPT][hapmap]
rs4854759	1.00[JPT][hapmap]
rs6767770	1.00[JPT][hapmap]
rs6785596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6796795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]
rs6806081	0.82[CHB][hapmap]
rs7618054	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7620678	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs8177201	1.00[JPT][hapmap]
rs8177313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs8177321	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863253	1.00[JPT][hapmap]
rs9880615	1.00[JPT][hapmap]

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	esv3380897	chr3:133473262-133477260	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 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	chr3:133469600-133473800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:133469600-133474400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:133469600-133476400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:133471200-133473800	Genic enhancers	Liver	Liver
7	chr3:133471400-133474800	Genic enhancers	Brain Substantia Nigra	brain
8	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:133471800-133474000	Genic enhancers	Brain Hippocampus Middle	brain
10	chr3:133471800-133477000	Genic enhancers	Brain Cingulate Gyrus	brain
11	chr3:133472000-133474800	Enhancers	K562	blood
12	chr3:133472000-133476400	Enhancers	Esophagus	oesophagus
13	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
14	chr3:133473000-133474200	Enhancers	NHEK	skin
15	chr3:133473000-133476800	Strong transcription	Brain Anterior Caudate	brain
16	chr3:133473200-133473800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:133473200-133473800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:133473200-133473800	Enhancers	HMEC	breast
19	chr3:133473200-133475200	Genic enhancers	HepG2	liver
20	chr3:133473200-133476200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:133473400-133476000	Strong transcription	Adipose Nuclei	Adipose
22	chr3:133473400-133480800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr3:133473600-133474600	Enhancers	Fetal Muscle Trunk	muscle
24	chr3:133473600-133475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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