Variant report

Variant	rs12000950
Chromosome Location	chr9:18495525-18495526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10511658	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11999281	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000949	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001004	0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001288	0.87[YRI][hapmap]
rs12001790	1.00[YRI][hapmap]
rs12002126	1.00[AMR][1000 genomes]
rs12003118	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs12003267	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003900	1.00[AMR][1000 genomes]
rs12005242	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13294727	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs16936711	1.00[AMR][1000 genomes]
rs16936775	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936777	0.87[YRI][hapmap]
rs16936780	0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936815	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1856705	1.00[AMR][1000 genomes]
rs1888064	1.00[AMR][1000 genomes]
rs57153018	1.00[AMR][1000 genomes]
rs58068158	1.00[AMR][1000 genomes]
rs58526635	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60199560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60288112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6475217	1.00[AMR][1000 genomes]
rs7019792	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7040544	1.00[AMR][1000 genomes]
rs73417101	1.00[AMR][1000 genomes]
rs73418922	1.00[AMR][1000 genomes]
rs73418924	1.00[AMR][1000 genomes]
rs73418940	1.00[AMR][1000 genomes]
rs73421011	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421023	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421030	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421031	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421035	1.00[AMR][1000 genomes]
rs870019	0.93[YRI][hapmap];0.96[AFR][1000 genomes];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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18487400-18495600	Enhancers	Fetal Heart	heart
2	chr9:18490400-18509400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18491200-18498400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:18491400-18495600	Enhancers	HMEC	breast
5	chr9:18491400-18495600	Enhancers	NHLF	lung
6	chr9:18491400-18497000	Enhancers	NH-A	brain
7	chr9:18492000-18497600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:18492600-18496800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18492800-18498000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:18493800-18496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:18493800-18497000	Weak transcription	Fetal Lung	lung
12	chr9:18493800-18498600	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:18493800-18502400	Weak transcription	Ovary	ovary
14	chr9:18494000-18496400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:18494000-18497000	Weak transcription	Fetal Stomach	stomach
16	chr9:18494000-18501000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:18494200-18496400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:18494400-18496800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:18494400-18497000	Genic enhancers	HSMM	muscle
20	chr9:18494400-18500400	Genic enhancers	Osteobl	bone
21	chr9:18494600-18498800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:18494600-18498800	Weak transcription	Fetal Brain Male	brain
23	chr9:18495000-18496400	Weak transcription	HSMMtube	muscle
24	chr9:18495200-18496800	Genic enhancers	NHDF-Ad	bronchial
25	chr9:18495400-18495800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:18495400-18496200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:18495400-18499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:18495400-18499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:18495400-18500000	Weak transcription	NHEK	skin
30	chr9:18495400-18513200	Weak transcription	HUVEC	blood vessel

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