Variant report

Variant	rs2216924
Chromosome Location	chr2:67079943-67079944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10167484	0.92[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs10170124	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10171004	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10176733	0.87[ASN][1000 genomes]
rs10177813	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs10183135	0.90[ASN][1000 genomes]
rs10186923	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs10190086	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs10197753	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs10496137	0.83[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs11677614	0.90[ASN][1000 genomes]
rs12713575	0.94[ASN][1000 genomes]
rs12713576	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs12713578	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713584	0.90[ASN][1000 genomes]
rs12713587	0.83[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs12995173	0.90[ASN][1000 genomes]
rs12997959	0.90[ASN][1000 genomes]
rs12998082	0.88[ASN][1000 genomes]
rs13007060	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13009433	0.88[ASN][1000 genomes]
rs13015121	0.90[ASN][1000 genomes]
rs13020124	0.93[ASN][1000 genomes]
rs13032699	0.94[ASN][1000 genomes]
rs13416909	0.90[ASN][1000 genomes]
rs13420432	0.87[AFR][1000 genomes]
rs1559602	0.93[ASN][1000 genomes]
rs17632177	0.93[ASN][1000 genomes]
rs2113769	0.90[ASN][1000 genomes]
rs2161975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2194660	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2194662	0.86[AFR][1000 genomes]
rs2194663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2194664	0.97[AFR][1000 genomes]
rs2194666	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156489	0.93[ASN][1000 genomes]
rs4671161	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs4671752	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671754	0.81[AFR][1000 genomes]
rs4671755	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4671756	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs6715872	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6728659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6728760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7594571	0.87[ASN][1000 genomes]
rs7601449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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
rs2216924	CNRIP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67068400-67080200	Weak transcription	Ovary	ovary
2	chr2:67069000-67081400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:67074600-67080000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:67074600-67080000	Weak transcription	Fetal Kidney	kidney
5	chr2:67076200-67081800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:67076200-67082400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:67076200-67082400	Enhancers	NHLF	lung
8	chr2:67077200-67080800	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:67077600-67080000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:67077800-67080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:67077800-67080600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:67078400-67081200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:67078800-67080600	Weak transcription	HSMMtube	muscle
14	chr2:67079200-67080200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:67079200-67080200	Weak transcription	Pancreas	Pancrea
16	chr2:67079200-67080200	Weak transcription	NH-A	brain
17	chr2:67079200-67080600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:67079200-67080800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:67079200-67080800	Weak transcription	Osteobl	bone
20	chr2:67079200-67081000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:67079600-67080000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:67079600-67080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:67079600-67080000	Weak transcription	Fetal Stomach	stomach
24	chr2:67079600-67080000	Weak transcription	HSMM	muscle
25	chr2:67079600-67080600	Weak transcription	NHDF-Ad	bronchial
26	chr2:67079800-67080800	Enhancers	Fetal Lung	lung

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