Variant report

Variant	rs4445657
Chromosome Location	chr11:87147738-87147739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1001592	0.83[ASN][1000 genomes]
rs10751161	0.86[EUR][1000 genomes]
rs10751162	0.86[EUR][1000 genomes]
rs10751163	0.86[EUR][1000 genomes]
rs10792955	0.86[EUR][1000 genomes]
rs11235140	0.95[ASN][1000 genomes]
rs11235146	0.99[ASN][1000 genomes]
rs11235151	0.86[EUR][1000 genomes]
rs11235156	0.86[EUR][1000 genomes]
rs12281894	0.86[EUR][1000 genomes]
rs12284060	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186728	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2212463	0.99[ASN][1000 genomes]
rs4127380	0.87[EUR][1000 genomes]
rs4127381	0.87[EUR][1000 genomes]
rs4373960	0.82[AMR][1000 genomes]
rs4943984	0.81[AMR][1000 genomes]
rs4944707	0.99[ASN][1000 genomes]
rs4944708	0.86[EUR][1000 genomes]
rs7127837	0.95[ASN][1000 genomes]
rs7131614	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs722620	0.86[EUR][1000 genomes]
rs7946298	0.85[EUR][1000 genomes]
rs875751	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875752	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4445657	CHORDC1	cis	cerebellum	SCAN
rs4445657	CCDC89	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87142800-87150800	Weak transcription	Right Atrium	heart
2	chr11:87143600-87148200	Weak transcription	NH-A	brain
3	chr11:87143800-87155800	Weak transcription	Adipose Nuclei	Adipose
4	chr11:87144000-87148000	Weak transcription	Osteobl	bone
5	chr11:87144000-87148200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:87144000-87148400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:87144000-87148400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:87144000-87148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:87144000-87148600	Weak transcription	HSMM	muscle
10	chr11:87144400-87148400	Weak transcription	NHDF-Ad	bronchial
11	chr11:87144400-87149600	Weak transcription	HSMMtube	muscle
12	chr11:87144800-87150800	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:87145400-87147800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:87145800-87147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:87145800-87148400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:87145800-87148400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:87147400-87152200	Enhancers	NHLF	lung
18	chr11:87147600-87147800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links