Variant report

Variant	rs58111567
Chromosome Location	chr13:51002274-51002275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73500225	1.00[AMR][1000 genomes]
rs73500236	1.00[AMR][1000 genomes]
rs73500242	1.00[AMR][1000 genomes]
rs73500250	1.00[AMR][1000 genomes]
rs73500262	1.00[AMR][1000 genomes]
rs73500287	1.00[AMR][1000 genomes]
rs73500300	1.00[AMR][1000 genomes]
rs74079217	1.00[AMR][1000 genomes]
rs7992035	1.00[AMR][1000 genomes]
rs8001263	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50992200-51014600	Weak transcription	HepG2	liver
2	chr13:50994000-51002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50996600-51022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:50997800-51002600	Weak transcription	HSMMtube	muscle
5	chr13:50999400-51003800	Enhancers	Fetal Thymus	thymus
6	chr13:51001000-51003800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr13:51001200-51003000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr13:51001200-51003000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:51001200-51003800	Enhancers	Thymus	Thymus
10	chr13:51001400-51003000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr13:51001600-51003800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:51002000-51003000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr13:51002200-51002400	Enhancers	Fetal Muscle Leg	muscle
14	chr13:51002200-51002800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:51002200-51003000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr13:51002200-51003000	Enhancers	Right Atrium	heart
17	chr13:51002200-51003400	Enhancers	Primary T cells from cord blood	blood
18	chr13:51002200-51004000	Enhancers	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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