Variant report

Variant	rs12471718
Chromosome Location	chr2:187593890-187593891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187588854..187591621-chr2:187592997..187594763,2	K562	blood:
2	chr2:187588854..187590720-chr2:187592997..187595424,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10165992	0.96[ASN][1000 genomes]
rs1072901	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12475476	0.93[ASN][1000 genomes]
rs13020260	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13028008	0.80[ASN][1000 genomes]
rs17406346	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012128	0.91[ASN][1000 genomes]
rs2012401	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2121976	0.96[ASN][1000 genomes]
rs2276562	0.96[ASN][1000 genomes]
rs2290083	0.94[ASN][1000 genomes]
rs2595383	0.90[ASN][1000 genomes]
rs2595384	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2595386	0.90[ASN][1000 genomes]
rs2595395	0.99[ASN][1000 genomes]
rs2682863	0.98[ASN][1000 genomes]
rs2682868	0.94[ASN][1000 genomes]
rs2682873	0.97[ASN][1000 genomes]
rs3114941	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35540241	0.84[ASN][1000 genomes]
rs3768785	0.84[ASN][1000 genomes]
rs41265951	0.92[ASN][1000 genomes]
rs4666713	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4667112	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667113	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55781198	0.84[ASN][1000 genomes]
rs62173041	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62173045	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62196185	0.97[ASN][1000 genomes]
rs718259	0.90[ASN][1000 genomes]
rs930657	0.83[ASN][1000 genomes]
rs9789704	0.80[ASN][1000 genomes]
rs9967663	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:187590600-187594600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187590800-187594000	Weak transcription	Fetal Brain Female	brain
4	chr2:187590800-187594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:187590800-187597800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:187591600-187594600	Enhancers	Brain Anterior Caudate	brain
7	chr2:187591800-187595400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:187592200-187594000	Weak transcription	Fetal Brain Male	brain
9	chr2:187592200-187595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:187592200-187618600	Weak transcription	Osteobl	bone
11	chr2:187592400-187594000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:187592400-187594000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:187592400-187594600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:187592400-187595000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:187592400-187595800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:187592400-187595800	Weak transcription	Brain Angular Gyrus	brain
17	chr2:187592400-187595800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:187592400-187596000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:187592600-187597400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:187593400-187594800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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