Variant report

Variant	rs10785186
Chromosome Location	chr12:41644422-41644423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10879858	0.91[CHB][hapmap]
rs10879867	0.91[CHB][hapmap]
rs10879897	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10879898	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10879899	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11180448	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.99[ASN][1000 genomes]
rs11180454	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12829840	0.81[ASN][1000 genomes]
rs1431104	0.91[CHB][hapmap]
rs1431112	0.91[CHB][hapmap]
rs1527086	0.82[CHB][hapmap]
rs1864611	0.91[CHB][hapmap]
rs1864613	0.91[CHB][hapmap]
rs2163416	0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs4767999	0.83[ASN][1000 genomes]
rs4768334	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7302984	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7305919	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs7309290	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7313218	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7314512	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7314528	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7342366	0.91[CHB][hapmap]
rs7963760	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs975602	0.91[CHB][hapmap]

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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3431780	chr12:41644194-41644454	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41636800-41645600	Weak transcription	Aorta	Aorta
2	chr12:41637000-41648200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:41637800-41651000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:41644000-41645000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41644400-41644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:41644400-41644600	Flanking Active TSS	Ovary	ovary
7	chr12:41644400-41644800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:41644400-41644800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:41644400-41644800	Enhancers	Brain Anterior Caudate	brain
10	chr12:41644400-41645000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:41644400-41645200	Enhancers	NHEK	skin

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