Variant report

Variant	rs4578499
Chromosome Location	chr13:30567446-30567447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492461	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838968	1.00[ASN][1000 genomes]
rs11839078	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11839379	0.93[EUR][1000 genomes]
rs11840419	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840423	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841787	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842111	1.00[ASN][1000 genomes]
rs11842198	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842394	1.00[ASN][1000 genomes]
rs11842819	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547161	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1557088	1.00[ASN][1000 genomes]
rs17074013	1.00[ASN][1000 genomes]
rs17074016	1.00[ASN][1000 genomes]
rs17074063	1.00[ASN][1000 genomes]
rs17074065	1.00[ASN][1000 genomes]
rs17074067	1.00[ASN][1000 genomes]
rs17074166	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074176	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807336	0.93[EUR][1000 genomes]
rs1998729	1.00[ASN][1000 genomes]
rs4238129	1.00[ASN][1000 genomes]
rs4769786	1.00[ASN][1000 genomes]
rs4769787	1.00[ASN][1000 genomes]
rs4769788	1.00[ASN][1000 genomes]
rs4769790	1.00[ASN][1000 genomes]
rs4769791	1.00[ASN][1000 genomes]
rs496557	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524939	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525768	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552465	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61285944	1.00[ASN][1000 genomes]
rs638278	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661331	1.00[ASN][1000 genomes]
rs729285	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159369	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159387	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450320	1.00[ASN][1000 genomes]
rs73450326	1.00[ASN][1000 genomes]
rs73450335	1.00[ASN][1000 genomes]
rs73450337	1.00[ASN][1000 genomes]
rs73450342	1.00[ASN][1000 genomes]
rs73450344	1.00[ASN][1000 genomes]
rs73450347	1.00[ASN][1000 genomes]
rs73450349	1.00[ASN][1000 genomes]
rs73450391	0.96[EUR][1000 genomes]
rs745251	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745252	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506248	1.00[ASN][1000 genomes]
rs9508600	1.00[ASN][1000 genomes]
rs9508603	1.00[ASN][1000 genomes]
rs9508605	1.00[ASN][1000 genomes]
rs9508611	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508613	0.83[AMR][1000 genomes];0.90[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30565000-30569000	Enhancers	NHDF-Ad	bronchial
2	chr13:30565000-30569400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:30565200-30568600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:30565200-30569400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:30565400-30569600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:30565800-30573000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:30566000-30567600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:30566400-30567600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:30566400-30567800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:30566400-30567800	Weak transcription	NHEK	skin
11	chr13:30566400-30568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:30567000-30567600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:30567000-30569400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:30567200-30568000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:30567200-30568000	Enhancers	NH-A	brain
16	chr13:30567200-30569000	Enhancers	HSMM	muscle
17	chr13:30567200-30569400	Enhancers	NHLF	lung
18	chr13:30567200-30569800	Enhancers	Osteobl	bone
19	chr13:30567400-30569400	Enhancers	HSMMtube	muscle

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