Variant report

Variant	rs4141944
Chromosome Location	chr12:29219706-29219707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29219445..29221150-chr12:29222821..29224786,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10437765	0.81[EUR][1000 genomes]
rs10437782	0.81[EUR][1000 genomes]
rs10437783	0.81[EUR][1000 genomes]
rs10743631	0.82[EUR][1000 genomes]
rs10771460	0.82[EUR][1000 genomes]
rs10771461	0.82[EUR][1000 genomes]
rs10771462	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771466	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771467	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843292	0.81[EUR][1000 genomes]
rs10843295	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11049998	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050024	0.89[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes]
rs11050038	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11050069	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11050105	0.94[JPT][hapmap]
rs11050116	0.87[JPT][hapmap]
rs11050119	0.88[JPT][hapmap]
rs11050122	0.88[JPT][hapmap]
rs11537408	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12578576	1.00[JPT][hapmap]
rs1865766	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1865767	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2060567	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2060568	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2099530	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2117996	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164494	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2349571	0.83[ASN][1000 genomes]
rs2349572	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4558201	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4583013	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930843	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4931127	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4931135	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487736	0.80[EUR][1000 genomes]
rs6487738	0.82[EUR][1000 genomes]
rs6487741	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487742	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487745	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487746	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487749	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7136128	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7136405	0.87[AMR][1000 genomes]
rs7138730	0.82[EUR][1000 genomes]
rs7295074	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7297486	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7301343	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302286	0.82[EUR][1000 genomes]
rs7302810	0.83[ASN][1000 genomes]
rs7303155	0.82[EUR][1000 genomes]
rs7303768	0.82[EUR][1000 genomes]
rs7308244	0.82[EUR][1000 genomes]
rs7308854	0.84[ASN][1000 genomes]
rs7311435	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316695	0.94[JPT][hapmap]
rs7953668	0.82[EUR][1000 genomes]
rs7959020	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7962367	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963989	0.82[EUR][1000 genomes]
rs7964060	0.82[EUR][1000 genomes]
rs7967094	0.81[EUR][1000 genomes]
rs7969043	0.82[EUR][1000 genomes]
rs7972016	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7973139	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7976269	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978848	0.83[EUR][1000 genomes]
rs7978997	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979959	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9651801	0.82[EUR][1000 genomes]
rs9651839	0.83[EUR][1000 genomes]

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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2761730	chr12:29206071-29221852	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv519276	chr12:29210121-29226080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv557914	chr12:29210121-29226080	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29217800-29219800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:29217800-29220600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:29217800-29220800	Enhancers	Brain Hippocampus Middle	brain
4	chr12:29218000-29220600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:29218000-29221200	Enhancers	Brain Substantia Nigra	brain
6	chr12:29218200-29220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:29218800-29219800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:29218800-29219800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:29219000-29220000	Enhancers	HUVEC	blood vessel
10	chr12:29219000-29222400	Weak transcription	Brain Germinal Matrix	brain
11	chr12:29219200-29219800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:29219200-29219800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:29219200-29219800	Enhancers	NHEK	skin
14	chr12:29219200-29220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:29219200-29221000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:29219400-29219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:29219400-29221000	Enhancers	Brain Anterior Caudate	brain
18	chr12:29219400-29222400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:29219400-29222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:29219400-29224200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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