Variant report

Variant	rs11564223
Chromosome Location	chr12:40394742-40394743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10506145	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1086490	1.00[JPT][hapmap]
rs10877837	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11174370	1.00[JPT][hapmap]
rs11174688	0.83[YRI][hapmap]
rs11175139	0.84[YRI][hapmap]
rs11564133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11564137	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11564139	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11564194	1.00[JPT][hapmap]
rs11564282	1.00[JPT][hapmap]
rs12300008	0.84[YRI][hapmap]
rs12312535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313568	0.84[YRI][hapmap]
rs12314745	0.84[YRI][hapmap]
rs12371119	1.00[JPT][hapmap]
rs12810368	1.00[JPT][hapmap]
rs12827948	1.00[JPT][hapmap]
rs1482282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17442108	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs17442304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs17442469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17442756	1.00[JPT][hapmap]
rs17442805	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17443112	1.00[JPT][hapmap]
rs17458299	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs17458396	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17458403	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17461082	1.00[CHB][hapmap]
rs17483628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17559478	1.00[JPT][hapmap]
rs2046929	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086598	0.92[EUR][1000 genomes]
rs2404346	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404574	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2708404	1.00[JPT][hapmap]
rs28370607	0.82[ASN][1000 genomes]
rs28370611	0.82[ASN][1000 genomes]
rs28370644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28370659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28740188	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707305	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132755	0.84[YRI][hapmap]
rs7305377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306718	1.00[JPT][hapmap]
rs7309328	0.83[YRI][hapmap]
rs7484475	1.00[JPT][hapmap]
rs7969495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974522	1.00[JPT][hapmap]
rs7974972	1.00[JPT][hapmap]
rs992851	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv899027	chr12:40388510-40428561	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	4 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	chr12:40384400-40405200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:40384400-40405400	Weak transcription	Pancreas	Pancrea
3	chr12:40393400-40405400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40393800-40396400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:40394000-40394800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr12:40394000-40405400	Weak transcription	Left Ventricle	heart
7	chr12:40394000-40410800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:40394200-40403800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:40394400-40395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:40394400-40396000	Enhancers	A549	lung
11	chr12:40394400-40396200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:40394400-40405000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:40394400-40405200	Weak transcription	Hela-S3	cervix
14	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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