Variant report

Variant	rs2111447
Chromosome Location	chr2:205475012-205475013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10084275	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10170405	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10174747	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10175139	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10198136	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10490268	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10804142	0.80[MEX][hapmap]
rs10932077	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10932079	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10932080	0.94[EUR][1000 genomes]
rs11674084	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11675511	0.87[EUR][1000 genomes]
rs11675555	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11680708	0.84[EUR][1000 genomes]
rs12474673	0.87[EUR][1000 genomes]
rs12474806	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614238	0.86[EUR][1000 genomes]
rs12621786	0.93[EUR][1000 genomes]
rs12694004	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13017644	0.95[EUR][1000 genomes]
rs13024650	0.87[EUR][1000 genomes]
rs1447497	0.85[CEU][hapmap]
rs1861766	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1868068	0.86[EUR][1000 genomes]
rs2193449	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2193450	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2197691	0.85[CEU][hapmap]
rs2216318	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2216319	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2334802	0.95[EUR][1000 genomes]
rs4673304	0.81[AMR][1000 genomes]
rs4673307	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6713748	0.84[AMR][1000 genomes]
rs6721452	0.89[EUR][1000 genomes]
rs7568847	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7587284	0.95[EUR][1000 genomes]
rs7590330	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7595939	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7600675	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7603507	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7609521	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs763832	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9283519	0.95[AMR][1000 genomes];0.98[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
rs2111447	NUP37	trans	cerebellum	SCAN
rs2111447	FZD5	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205467400-205477200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:205468600-205475400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:205472400-205475600	Enhancers	Ovary	ovary
4	chr2:205472400-205477400	Enhancers	Fetal Intestine Large	intestine
5	chr2:205473000-205475600	Weak transcription	Fetal Lung	lung
6	chr2:205473200-205481000	Weak transcription	Aorta	Aorta
7	chr2:205473400-205475400	Weak transcription	Fetal Kidney	kidney
8	chr2:205473400-205476200	Enhancers	Fetal Intestine Small	intestine
9	chr2:205473400-205476600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:205473600-205475600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:205473600-205476000	Weak transcription	NHLF	lung
12	chr2:205473600-205476800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:205473600-205476800	Weak transcription	Right Atrium	heart
14	chr2:205473600-205477200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:205473600-205477600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:205473600-205477600	Weak transcription	Osteobl	bone
17	chr2:205473600-205477800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:205473600-205478000	Weak transcription	HSMM	muscle
19	chr2:205473800-205476000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:205473800-205476800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:205473800-205477800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:205474000-205478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:205474400-205475800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:205474800-205475800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:205474800-205477200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr2:205475000-205475200	Enhancers	Liver	Liver
27	chr2:205475000-205475400	Enhancers	Pancreas	Pancrea

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