Variant report

Variant	rs12080072
Chromosome Location	chr1:190138070-190138071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10800940	1.00[AMR][1000 genomes]
rs10920641	0.93[YRI][hapmap]
rs10920656	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10920657	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10920664	1.00[AMR][1000 genomes]
rs10920667	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10920685	1.00[AMR][1000 genomes]
rs10920695	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10920698	0.85[YRI][hapmap]
rs10920699	0.85[YRI][hapmap]
rs10920701	0.83[YRI][hapmap]
rs12060718	1.00[YRI][hapmap]
rs12061471	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063934	0.92[YRI][hapmap]
rs12067650	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069314	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs12074400	1.00[AMR][1000 genomes]
rs12077686	1.00[YRI][hapmap]
rs12079649	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080920	1.00[AMR][1000 genomes]
rs12082166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083780	0.92[YRI][hapmap]
rs12084750	0.92[YRI][hapmap]
rs12084800	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086633	1.00[AMR][1000 genomes]
rs12087388	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088760	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090663	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs12090807	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091719	0.83[YRI][hapmap]
rs12093281	1.00[AMR][1000 genomes]
rs12096195	1.00[AMR][1000 genomes]
rs12097847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832207	0.87[YRI][hapmap];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	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917005	chr1:189855484-190259380	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv832104	chr1:189990148-190186708	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2764208	chr1:190123195-190143205	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1003035	chr1:190123195-190291554	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv872755	chr1:190135811-190186387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190136400-190138600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:190136400-190139400	Enhancers	A549	lung
3	chr1:190136800-190140400	Enhancers	HSMM	muscle
4	chr1:190137000-190138600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:190137000-190139200	Enhancers	HMEC	breast
6	chr1:190137200-190138200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:190137200-190140400	Enhancers	NH-A	brain
8	chr1:190137600-190138600	Enhancers	NHEK	skin
9	chr1:190137800-190138200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:190137800-190138600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:190137800-190138600	Enhancers	Brain Germinal Matrix	brain
12	chr1:190137800-190140400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:190138000-190138600	Enhancers	Brain Angular Gyrus	brain
14	chr1:190138000-190138600	Enhancers	Brain Hippocampus Middle	brain

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