Variant report

Variant	rs73114284
Chromosome Location	chr12:40909924-40909925
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1122621	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122863	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564109	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829565	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835808	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492328	1.00[ASN][1000 genomes]
rs1492329	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492337	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492338	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128391	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128416	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17532278	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17533321	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598093	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598156	1.00[ASN][1000 genomes]
rs17599001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844979	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844982	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873674	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768261	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768265	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768276	0.84[AMR][1000 genomes]
rs4768287	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768288	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768289	0.82[EUR][1000 genomes]
rs55642775	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649806	1.00[ASN][1000 genomes]
rs55818225	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56036709	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56211973	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56226314	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56952712	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57161116	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59005564	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59095251	1.00[ASN][1000 genomes]
rs59367732	1.00[ASN][1000 genomes]
rs73094611	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100423	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100426	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73100438	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106618	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106623	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73112007	1.00[ASN][1000 genomes]
rs73112026	1.00[ASN][1000 genomes]
rs73116206	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119908	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7315186	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40908000-40910400	Enhancers	HMEC	breast
2	chr12:40908200-40910200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:40908400-40910200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:40908400-40910800	Enhancers	Dnd41	blood
5	chr12:40908600-40910000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:40908600-40910000	Enhancers	NHEK	skin
7	chr12:40908600-40910400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:40908800-40910000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:40908800-40910000	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:40909000-40910200	Enhancers	Colon Smooth Muscle	Colon
11	chr12:40909400-40911800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:40909600-40910000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:40909800-40910200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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