Variant report

Variant	rs7859309
Chromosome Location	chr9:18490238-18490239
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10120111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10125046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10963610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10963611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10963612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12344691	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12349955	1.00[AMR][1000 genomes]
rs12353438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1576896	1.00[AMR][1000 genomes]
rs16936735	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28391853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28408411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489992	1.00[AMR][1000 genomes]
rs7020916	1.00[YRI][hapmap];0.98[AFR][1000 genomes];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]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv892689	chr9:18485434-18537444	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv892690	chr9:18485434-18592374	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18482600-18492200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:18485800-18490800	Weak transcription	Fetal Brain Female	brain
3	chr9:18486000-18490400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:18486200-18490800	Weak transcription	Fetal Lung	lung
5	chr9:18487400-18495600	Enhancers	Fetal Heart	heart
6	chr9:18488600-18490400	Enhancers	HUVEC	blood vessel
7	chr9:18489000-18490600	Weak transcription	Brain Germinal Matrix	brain
8	chr9:18489200-18491000	Enhancers	HMEC	breast
9	chr9:18489200-18491800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:18489400-18490800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:18489800-18490800	Enhancers	NHEK	skin
12	chr9:18490000-18490400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:18490000-18490400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:18490000-18490400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:18490000-18490600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:18490000-18490600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr9:18490000-18490600	Flanking Active TSS	HSMM	muscle
18	chr9:18490000-18490600	Flanking Active TSS	NH-A	brain
19	chr9:18490000-18490800	Enhancers	Adipose Nuclei	Adipose
20	chr9:18490000-18490800	Enhancers	Aorta	Aorta
21	chr9:18490000-18491000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:18490000-18491200	Enhancers	Fetal Muscle Leg	muscle
23	chr9:18490000-18491400	Enhancers	Fetal Stomach	stomach
24	chr9:18490000-18491600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:18490000-18493200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:18490200-18490400	Enhancers	Stomach Smooth Muscle	stomach
27	chr9:18490200-18490600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:18490200-18490600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:18490200-18490600	Flanking Active TSS	NHDF-Ad	bronchial
30	chr9:18490200-18490600	Flanking Active TSS	NHLF	lung
31	chr9:18490200-18490600	Flanking Active TSS	Osteobl	bone
32	chr9:18490200-18490800	Enhancers	Colon Smooth Muscle	Colon
33	chr9:18490200-18491200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:18490200-18491200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:18490200-18491200	Flanking Active TSS	HSMMtube	muscle
36	chr9:18490200-18491400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:18490200-18493400	Weak transcription	Ovary	ovary

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