Variant report

Variant	rs12991713
Chromosome Location	chr2:180407500-180407501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180405427..180408122-chr2:180413189..180415887,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10048645	1.00[CEU][hapmap]
rs10169569	1.00[JPT][hapmap]
rs11674582	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683272	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683510	1.00[CEU][hapmap]
rs11688895	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695089	1.00[CEU][hapmap]
rs11894850	1.00[JPT][hapmap]
rs12693194	1.00[JPT][hapmap]
rs12693195	1.00[CEU][hapmap]
rs12693196	1.00[CEU][hapmap]
rs13000199	1.00[CEU][hapmap]
rs13002104	0.91[EUR][1000 genomes]
rs13026689	1.00[CEU][hapmap]
rs13028216	1.00[CEU][hapmap]
rs13029050	1.00[CEU][hapmap]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1399692	1.00[JPT][hapmap]
rs1515297	1.00[JPT][hapmap]
rs1515298	1.00[JPT][hapmap]
rs1515304	1.00[CEU][hapmap]
rs16866782	1.00[JPT][hapmap]
rs16866810	1.00[CEU][hapmap]
rs16866819	1.00[CEU][hapmap]
rs16866823	1.00[CEU][hapmap]
rs16866832	1.00[CEU][hapmap]
rs16866834	1.00[CEU][hapmap]
rs16866857	1.00[CEU][hapmap]
rs17816271	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2176061	1.00[CEU][hapmap]
rs2203459	1.00[JPT][hapmap]
rs2222031	1.00[CEU][hapmap]
rs2222032	0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2887110	1.00[CEU][hapmap]
rs3112931	1.00[JPT][hapmap]
rs34017185	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35279307	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821053	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860816	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36040054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267476	1.00[JPT][hapmap]
rs4530328	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap]
rs6721295	1.00[CEU][hapmap]
rs6722937	0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425637	0.89[EUR][1000 genomes]
rs7579911	1.00[JPT][hapmap]
rs7581924	1.00[CEU][hapmap]
rs7593595	1.00[CEU][hapmap]
rs7601398	1.00[CEU][hapmap]
rs868271	1.00[JPT][hapmap]
rs868273	1.00[JPT][hapmap]
rs868274	1.00[JPT][hapmap]
rs9288040	1.00[CEU][hapmap]
rs951427	1.00[CEU][hapmap]
rs988290	1.00[CEU][hapmap]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv523865	chr2:180403128-180426764	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180403200-180408000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:180403400-180407600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:180403800-180408000	Weak transcription	Osteobl	bone
4	chr2:180403800-180408600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180403800-180408600	Weak transcription	Fetal Kidney	kidney
6	chr2:180403800-180409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:180404000-180408000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:180404000-180410000	Strong transcription	Liver	Liver
9	chr2:180404200-180409800	Weak transcription	Gastric	stomach
10	chr2:180405400-180410600	Enhancers	HepG2	liver
11	chr2:180405800-180408000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:180406800-180407800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:180407000-180411400	Weak transcription	Right Atrium	heart
14	chr2:180407400-180408800	Enhancers	Muscle Satellite Cultured Cells	--

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