Variant report

Variant	rs7020916
Chromosome Location	chr9:18482930-18482931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10120111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10125046	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10963610	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10963611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10963612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12344691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345456	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12349955	1.00[AMR][1000 genomes]
rs12353438	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1576896	1.00[AMR][1000 genomes]
rs16936735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28391853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28408411	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489992	1.00[AMR][1000 genomes]
rs73417008	1.00[AMR][1000 genomes]
rs73417095	1.00[AMR][1000 genomes]
rs73418919	1.00[AMR][1000 genomes]
rs73421026	1.00[AMR][1000 genomes]
rs73429660	1.00[AMR][1000 genomes]
rs73431002	1.00[AMR][1000 genomes]
rs73433514	1.00[AMR][1000 genomes]
rs7859309	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18475200-18484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:18476000-18485600	Weak transcription	Fetal Stomach	stomach
3	chr9:18477400-18489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:18479000-18485200	Weak transcription	Fetal Heart	heart
5	chr9:18479200-18483200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:18479200-18484600	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:18479200-18490000	Weak transcription	Aorta	Aorta
8	chr9:18480400-18483200	Genic enhancers	Osteobl	bone
9	chr9:18480600-18483000	Genic enhancers	NHDF-Ad	bronchial
10	chr9:18480600-18485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:18480800-18485600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:18481000-18484000	Strong transcription	HSMM	muscle
13	chr9:18481000-18484400	Weak transcription	HSMMtube	muscle
14	chr9:18481400-18485200	Weak transcription	NH-A	brain
15	chr9:18481800-18483200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:18482200-18484600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:18482600-18484600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:18482600-18492200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:18482800-18483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:18482800-18483400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:18482800-18484600	Weak transcription	HUVEC	blood vessel
22	chr9:18482800-18485600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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