Variant report

Variant	rs58488423
Chromosome Location	chr2:101259389-101259390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10496349	0.84[ASN][1000 genomes]
rs17024550	0.84[ASN][1000 genomes]
rs17024553	0.84[ASN][1000 genomes]
rs17024557	0.84[ASN][1000 genomes]
rs58227608	1.00[ASN][1000 genomes]
rs60974130	1.00[ASN][1000 genomes]
rs61211218	1.00[ASN][1000 genomes]
rs6744622	0.85[AFR][1000 genomes]
rs72969815	0.84[ASN][1000 genomes]
rs72969818	0.84[ASN][1000 genomes]
rs72969895	1.00[EUR][1000 genomes]
rs72971703	1.00[ASN][1000 genomes]
rs72971714	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv834314	chr2:101210940-101410477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101256000-101260800	Enhancers	Primary T cells from cord blood	blood
2	chr2:101256000-101260800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr2:101256000-101262200	Enhancers	Fetal Thymus	thymus
4	chr2:101256400-101260600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:101256600-101260800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:101256600-101260800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:101256600-101260800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:101257000-101262200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:101257200-101260800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:101257600-101260400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:101257600-101260800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:101257600-101261000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:101257800-101260600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:101258000-101260800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:101258000-101260800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:101258400-101260200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:101258600-101259400	Bivalent Enhancer	Thymus	Thymus
18	chr2:101258600-101260400	Enhancers	Dnd41	blood
19	chr2:101258600-101260800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:101258600-101261000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:101258800-101261600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:101258800-101262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:101259200-101259400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:101259200-101259400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:101259200-101259600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:101259200-101261200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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