Variant report

Variant	rs12531914
Chromosome Location	chr7:69014936-69014937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1014382	0.80[AMR][1000 genomes]
rs10950191	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12333508	0.83[ASN][1000 genomes]
rs12669765	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1468588	0.83[ASN][1000 genomes]
rs210603	0.80[AMR][1000 genomes]
rs2253711	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533432	0.80[AMR][1000 genomes]
rs2533434	0.80[AMR][1000 genomes]
rs2533440	0.83[ASN][1000 genomes]
rs2533446	0.83[ASN][1000 genomes]
rs2533447	0.83[ASN][1000 genomes]
rs2533456	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851485	0.83[ASN][1000 genomes]
rs2851488	0.80[AMR][1000 genomes]
rs2851500	0.83[ASN][1000 genomes]
rs2851504	0.81[ASN][1000 genomes]
rs2851509	0.83[ASN][1000 genomes]
rs2851512	0.83[ASN][1000 genomes]
rs2851517	0.80[AMR][1000 genomes]
rs41851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41855	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41858	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585282	0.82[JPT][hapmap]
rs588004	0.80[AMR][1000 genomes]
rs595681	0.80[JPT][hapmap]
rs610930	0.80[JPT][hapmap]
rs611052	0.80[AMR][1000 genomes]
rs624626	0.80[AMR][1000 genomes]
rs674865	0.80[AMR][1000 genomes]
rs720056	0.83[ASN][1000 genomes]
rs917616	0.80[AMR][1000 genomes]
rs9692258	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981291	0.83[ASN][1000 genomes]
rs988282	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69014400-69015200	Enhancers	NH-A	brain
2	chr7:69014600-69015000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:69014600-69015000	Flanking Active TSS	Brain Angular Gyrus	brain
4	chr7:69014600-69015000	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr7:69014600-69015000	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr7:69014600-69015000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
7	chr7:69014600-69015000	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr7:69014600-69015000	Enhancers	Left Ventricle	heart
9	chr7:69014600-69015000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr7:69014600-69015000	Enhancers	Stomach Smooth Muscle	stomach
11	chr7:69014600-69015200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:69014600-69015200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69014600-69015200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:69014600-69015200	Enhancers	Brain Germinal Matrix	brain
15	chr7:69014600-69015200	Enhancers	Pancreas	Pancrea
16	chr7:69014800-69015000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr7:69014800-69015000	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr7:69014800-69015000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:69014800-69015200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr7:69014800-69015200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr7:69014800-69017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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