Variant report

Variant	rs4760737
Chromosome Location	chr12:49035086-49035087
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49033876..49037286-chr12:49037890..49040344,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10747554	0.82[ASN][1000 genomes]
rs10783273	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783274	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10783275	0.86[ASN][1000 genomes]
rs10783278	0.93[ASN][1000 genomes]
rs10875850	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875852	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875853	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875861	0.88[ASN][1000 genomes]
rs10875862	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1110432	0.83[ASN][1000 genomes]
rs11168657	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168665	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168674	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168697	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168698	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12299955	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12426435	0.89[ASN][1000 genomes]
rs1316514	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1863541	0.89[ASN][1000 genomes]
rs1895995	0.95[ASN][1000 genomes]
rs2114320	0.84[ASN][1000 genomes]
rs2162317	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277365	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277366	0.91[ASN][1000 genomes]
rs2291728	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2409085	0.94[ASN][1000 genomes]
rs2898087	0.95[ASN][1000 genomes]
rs3209584	0.91[ASN][1000 genomes]
rs35717253	0.95[ASN][1000 genomes]
rs3741628	0.95[ASN][1000 genomes]
rs3741629	0.89[ASN][1000 genomes]
rs3741630	0.93[ASN][1000 genomes]
rs3741632	0.91[ASN][1000 genomes]
rs3803025	0.91[ASN][1000 genomes]
rs3943899	0.89[ASN][1000 genomes]
rs4113946	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4500528	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760735	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760739	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760740	0.93[ASN][1000 genomes]
rs6580689	0.95[ASN][1000 genomes]
rs6580690	0.95[ASN][1000 genomes]
rs7136021	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7138190	0.95[ASN][1000 genomes]
rs7139236	0.93[ASN][1000 genomes]
rs7299276	0.93[ASN][1000 genomes]
rs7304711	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7305907	0.83[ASN][1000 genomes]
rs7306604	0.87[ASN][1000 genomes]
rs7308699	0.89[ASN][1000 genomes]
rs7308932	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7314665	0.89[ASN][1000 genomes]
rs7954446	0.82[ASN][1000 genomes]
rs7964546	0.86[ASN][1000 genomes]
rs7966065	0.89[ASN][1000 genomes]
rs7973824	0.87[ASN][1000 genomes]
rs7974151	0.81[ASN][1000 genomes]
rs7974625	0.83[ASN][1000 genomes]
rs7975030	0.83[ASN][1000 genomes]
rs9332441	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9634241	0.95[ASN][1000 genomes]
rs9634242	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9634262	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4760737	KANSL2	cis	lung	GTEx
rs4760737	KANSL2	cis	Thyroid	GTEx
rs4760737	KANSL2	cis	Nerve Tibial	GTEx
rs4760737	KANSL2	cis	Skin Sun Exposed Lower leg	GTEx
rs4760737	KANSL2	cis	Esophagus Mucosa	GTEx
rs4760737	KANSL2	cis	Artery Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49027800-49036600	Weak transcription	Fetal Brain Male	brain
3	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
4	chr12:49028400-49038000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:49028600-49037600	Weak transcription	HSMM	muscle
6	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
7	chr12:49030200-49036800	Weak transcription	A549	lung
8	chr12:49031000-49036600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:49031400-49037400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:49031400-49043800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:49031800-49037000	Weak transcription	HSMMtube	muscle
12	chr12:49032200-49036600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:49033200-49036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:49033400-49036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:49033600-49036600	Weak transcription	Osteobl	bone
16	chr12:49033800-49039000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
18	chr12:49034000-49036600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:49034200-49036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:49034400-49035800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:49034400-49042400	Weak transcription	Thymus	Thymus
22	chr12:49034600-49035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:49034600-49036600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:49034600-49036800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr12:49034600-49045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:49034800-49036800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:49034800-49036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:49034800-49036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:49034800-49038000	Weak transcription	Primary T cells from cord blood	blood
30	chr12:49034800-49041200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:49034800-49041800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:49034800-49044400	Weak transcription	NHEK	skin
33	chr12:49034800-49045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:49034800-49045400	Weak transcription	NHDF-Ad	bronchial
35	chr12:49035000-49036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:49035000-49037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:49035000-49041200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:49035000-49044400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:49035000-49045600	Weak transcription	K562	blood

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