Variant report

Variant	rs7568847
Chromosome Location	chr2:205481915-205481916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10084275	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10170405	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10174747	0.97[EUR][1000 genomes]
rs10175139	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10198136	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490268	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10932077	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10932079	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10932080	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11674084	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11675511	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11675555	0.97[EUR][1000 genomes]
rs11680708	0.82[EUR][1000 genomes]
rs12474673	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12474806	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12614238	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12621786	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694004	0.98[EUR][1000 genomes]
rs13017644	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024650	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861766	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1868068	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2111447	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2193449	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2193450	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2197691	0.80[JPT][hapmap]
rs2216318	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2216319	0.96[EUR][1000 genomes]
rs2334802	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4673307	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721452	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7587284	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7590330	0.99[EUR][1000 genomes]
rs7595939	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7600675	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7603507	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7609521	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs763832	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9283519	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7568847	NUP37	trans	cerebellum	SCAN
rs7568847	FZD5	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205476000-205486600	Weak transcription	Gastric	stomach
2	chr2:205477000-205491800	Weak transcription	Fetal Lung	lung
3	chr2:205478800-205485400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:205480000-205482400	Enhancers	Colon Smooth Muscle	Colon
5	chr2:205480200-205482200	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:205481200-205485200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:205481200-205493600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:205481400-205501000	Weak transcription	Aorta	Aorta
9	chr2:205481600-205482400	Weak transcription	Pancreas	Pancrea
10	chr2:205481600-205482600	Weak transcription	Ovary	ovary
11	chr2:205481600-205484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:205481600-205494200	Weak transcription	Fetal Brain Male	brain

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