Variant report

Variant	rs12713575
Chromosome Location	chr2:67081507-67081508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10167484	0.91[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs10170124	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10171004	0.91[ASN][1000 genomes]
rs10176733	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10177813	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs10183135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10186923	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs10190086	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10196555	0.87[AFR][1000 genomes]
rs10197753	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs10496137	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11677614	0.90[ASN][1000 genomes]
rs12713576	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12713578	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12713581	0.87[AFR][1000 genomes]
rs12713584	0.90[ASN][1000 genomes]
rs12713585	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12713586	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12713587	0.87[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12713588	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12995173	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12997959	0.90[ASN][1000 genomes]
rs12998082	0.88[ASN][1000 genomes]
rs13007060	0.93[ASN][1000 genomes]
rs13009433	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13015121	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020124	0.92[ASN][1000 genomes]
rs13032699	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13387078	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13416909	0.90[ASN][1000 genomes]
rs1559602	0.92[ASN][1000 genomes]
rs17632177	0.92[ASN][1000 genomes]
rs2113769	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2161975	0.97[ASN][1000 genomes]
rs2194660	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2194663	0.97[ASN][1000 genomes]
rs2194666	0.94[ASN][1000 genomes]
rs2216924	0.94[ASN][1000 genomes]
rs2861285	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35156489	0.92[ASN][1000 genomes]
rs4671161	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs4671752	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4671755	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4671756	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap]
rs6715872	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6728659	0.97[ASN][1000 genomes]
rs6728760	0.97[ASN][1000 genomes]
rs7594571	0.87[ASN][1000 genomes]
rs7601449	0.97[ASN][1000 genomes]
rs9798168	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009027	chr2:66947462-67114455	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12713575	SPRED2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67076200-67081800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:67076200-67082400	Enhancers	Colon Smooth Muscle	Colon
3	chr2:67076200-67082400	Enhancers	NHLF	lung
4	chr2:67080000-67082400	Enhancers	Fetal Stomach	stomach
5	chr2:67080200-67082400	Enhancers	Ovary	ovary
6	chr2:67080200-67082400	Enhancers	NH-A	brain
7	chr2:67080400-67082000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:67080600-67081600	Enhancers	Fetal Intestine Small	intestine
9	chr2:67080600-67081600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:67080600-67082200	Enhancers	HSMMtube	muscle
11	chr2:67080600-67082200	Enhancers	NHDF-Ad	bronchial
12	chr2:67080600-67082400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:67080800-67082200	Enhancers	Osteobl	bone
14	chr2:67081000-67082200	Enhancers	Fetal Kidney	kidney
15	chr2:67081000-67082400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:67081200-67081600	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:67081200-67081600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:67081200-67081600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr2:67081200-67081600	Flanking Active TSS	HSMM	muscle
20	chr2:67081200-67082400	Enhancers	Fetal Lung	lung
21	chr2:67081400-67081800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:67081400-67082000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:67081400-67082200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:67081400-67082400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:67081400-67082600	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:67081400-67089800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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