Variant report

Variant	rs58965312
Chromosome Location	chr2:113869233-113869234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10207930	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123161	0.92[ASN][1000 genomes]
rs11687782	0.91[ASN][1000 genomes]
rs13394316	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1542176	0.94[ASN][1000 genomes]
rs1630153	0.81[ASN][1000 genomes]
rs2029582	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs315927	0.82[ASN][1000 genomes]
rs315930	0.82[ASN][1000 genomes]
rs315931	0.81[ASN][1000 genomes]
rs315933	0.81[ASN][1000 genomes]
rs4368340	0.91[ASN][1000 genomes]
rs4575729	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56341434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728590	0.93[ASN][1000 genomes]
rs6731551	0.93[ASN][1000 genomes]
rs6738377	0.94[ASN][1000 genomes]
rs7561598	0.93[ASN][1000 genomes]
rs7575402	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868200-113871400	Weak transcription	Gastric	stomach
2	chr2:113868600-113870800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113869000-113869400	Enhancers	Stomach Mucosa	stomach
5	chr2:113869000-113869600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:113869000-113869600	Enhancers	Primary B cells from cord blood	blood
7	chr2:113869000-113870200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:113869000-113870400	Enhancers	Liver	Liver
9	chr2:113869000-113870400	Enhancers	Placenta	Placenta
10	chr2:113869000-113870400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:113869000-113870600	Bivalent Enhancer	HepG2	liver
12	chr2:113869200-113869400	Enhancers	Lung	lung
13	chr2:113869200-113869400	Enhancers	Spleen	Spleen
14	chr2:113869200-113869600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:113869200-113870400	Enhancers	NHEK	skin
16	chr2:113869200-113872400	Enhancers	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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