Variant report

Variant	rs73283792
Chromosome Location	chr12:42698354-42698355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42631388..42633488-chr12:42697590..42700253,2	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11829039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11830386	1.00[EUR][1000 genomes]
rs11831464	1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11832840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833011	1.00[EUR][1000 genomes]
rs11833109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833381	1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1683199	1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs2406968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57435495	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57490344	1.00[EUR][1000 genomes]
rs57647260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57955254	1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs59190545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59577937	1.00[EUR][1000 genomes]
rs59645146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs60982601	1.00[EUR][1000 genomes]
rs61067658	1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73270269	1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272072	1.00[EUR][1000 genomes]
rs73272073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272080	1.00[EUR][1000 genomes]
rs73272091	1.00[EUR][1000 genomes]
rs73272101	1.00[EUR][1000 genomes]
rs73273911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273932	1.00[EUR][1000 genomes]
rs73273975	1.00[EUR][1000 genomes]
rs73281814	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73281820	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73281860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73283759	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73283799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285631	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs824731	1.00[EUR][1000 genomes]
rs824732	1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[EUR][1000 genomes]
rs850965	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	esv1809322	chr12:42682065-42699107	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3525766	chr12:42696585-42701183	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3354598	chr12:42696885-42701283	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3525767	chr12:42697085-42701033	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3525768	chr12:42697085-42701033	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3381866	chr12:42697198-42700397	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3496451	chr12:42697707-42700166	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3496462	chr12:42697833-42700120	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1807832	chr12:42697895-42699107	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1807835	chr12:42697895-42699107	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1808640	chr12:42697895-42699107	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1809967	chr12:42697895-42699107	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1813935	chr12:42697895-42699107	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv20071	chr12:42697919-42699826	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42690800-42706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42693600-42706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42693800-42705600	Weak transcription	Osteobl	bone
5	chr12:42693800-42708400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:42694000-42705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42694000-42706800	Weak transcription	A549	lung
8	chr12:42694000-42707000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:42695200-42710600	Weak transcription	GM12878-XiMat	blood
10	chr12:42695600-42714800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42695800-42705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42696200-42709000	Weak transcription	K562	blood
13	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:42696800-42707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:42697000-42718800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:42697200-42704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:42697200-42710600	Weak transcription	Ovary	ovary
18	chr12:42697400-42703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:42697400-42718000	Weak transcription	HepG2	liver

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