Variant report

Variant	rs693762
Chromosome Location	chr12:41399061-41399062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1083206	1.00[ASN][1000 genomes]
rs11178929	0.87[ASN][1000 genomes]
rs11178961	0.87[ASN][1000 genomes]
rs11178966	1.00[ASN][1000 genomes]
rs11178968	0.87[ASN][1000 genomes]
rs11179174	1.00[ASN][1000 genomes]
rs12296475	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307865	1.00[ASN][1000 genomes]
rs12314872	0.87[ASN][1000 genomes]
rs12316203	0.87[ASN][1000 genomes]
rs12321608	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12809837	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12811839	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12824182	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13328933	1.00[ASN][1000 genomes]
rs13377827	0.87[ASN][1000 genomes]
rs1442183	1.00[ASN][1000 genomes]
rs157126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1866996	1.00[ASN][1000 genomes]
rs2405509	0.87[ASN][1000 genomes]
rs278900	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278902	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278903	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs278906	0.88[EUR][1000 genomes]
rs278909	0.90[EUR][1000 genomes]
rs278914	1.00[ASN][1000 genomes]
rs280355	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280356	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs280359	0.88[EUR][1000 genomes]
rs280360	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs280361	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs280362	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs397967	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55653124	0.87[ASN][1000 genomes]
rs59142970	0.87[ASN][1000 genomes]
rs59599863	1.00[ASN][1000 genomes]
rs60409838	0.87[ASN][1000 genomes]
rs61443681	1.00[ASN][1000 genomes]
rs67249613	1.00[ASN][1000 genomes]
rs692211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134389	1.00[ASN][1000 genomes]
rs7139018	1.00[ASN][1000 genomes]
rs7301266	1.00[ASN][1000 genomes]
rs7303815	0.87[ASN][1000 genomes]
rs7305416	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7312528	1.00[ASN][1000 genomes]
rs7314325	0.87[ASN][1000 genomes]
rs73275677	1.00[ASN][1000 genomes]
rs73275694	1.00[ASN][1000 genomes]
rs73277750	1.00[ASN][1000 genomes]
rs7980318	0.85[EUR][1000 genomes]
rs9652040	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	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
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41395000-41405200	Weak transcription	Ovary	ovary
3	chr12:41398400-41400800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:41398600-41402000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:41398600-41403600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:41399000-41404400	Weak transcription	Aorta	Aorta
7	chr12:41399000-41404800	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links