Variant report

Variant	rs2195380
Chromosome Location	chr5:112943365-112943366
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11747924	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11748145	0.93[ASN][1000 genomes]
rs11748794	0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs12519323	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17135616	0.88[JPT][hapmap]
rs17135630	1.00[JPT][hapmap]
rs17135753	0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs17135754	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1833678	0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap]
rs2042222	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs28842543	0.92[ASN][1000 genomes]
rs3846721	0.88[JPT][hapmap]
rs3846722	1.00[JPT][hapmap]
rs4705551	1.00[JPT][hapmap]
rs4705558	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4705819	0.85[JPT][hapmap]
rs4705826	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs57077871	0.84[ASN][1000 genomes]
rs6859688	0.93[ASN][1000 genomes]
rs6864369	0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs6878001	1.00[JPT][hapmap]
rs6879800	1.00[JPT][hapmap]
rs6883441	1.00[JPT][hapmap]
rs6884704	1.00[JPT][hapmap]
rs72805465	1.00[ASN][1000 genomes]
rs7729433	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs957777	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2195380	FCGR2A	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112929800-112943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:112930000-112943800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:112930000-112944000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:112930200-112944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112931400-112943600	Weak transcription	NHDF-Ad	bronchial
6	chr5:112931800-112943600	Weak transcription	Dnd41	blood
7	chr5:112933800-112943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:112942400-112943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:112942400-112943800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:112942400-112943800	Weak transcription	Left Ventricle	heart
11	chr5:112942400-112943800	Weak transcription	HMEC	breast
12	chr5:112942400-112943800	Weak transcription	HUVEC	blood vessel
13	chr5:112942400-112943800	Weak transcription	K562	blood
14	chr5:112942400-112943800	Weak transcription	Osteobl	bone
15	chr5:112942600-112943800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:112943200-112944200	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links