Variant report

Variant	rs1918146
Chromosome Location	chr12:105858572-105858573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10861431	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1344777	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880845	0.81[EUR][1000 genomes]
rs2177938	0.92[ASN][1000 genomes]
rs4964378	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1918146	AVPR2	trans	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105851600-105859400	Weak transcription	Aorta	Aorta
2	chr12:105854000-105860800	Weak transcription	Adipose Nuclei	Adipose
3	chr12:105854200-105860200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:105854200-105861000	Enhancers	HSMMtube	muscle
5	chr12:105854200-105861400	Weak transcription	Right Atrium	heart
6	chr12:105854200-105863000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:105854800-105858600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:105855800-105860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:105856000-105860800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:105856000-105861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:105856400-105860400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:105856400-105860600	Weak transcription	Fetal Heart	heart
13	chr12:105856600-105860600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:105857200-105862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:105857400-105859400	Weak transcription	HUVEC	blood vessel
16	chr12:105857600-105860000	Weak transcription	HMEC	breast
17	chr12:105857600-105861400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:105857600-105862600	Weak transcription	HSMM	muscle
19	chr12:105857600-105863000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:105858200-105859000	Enhancers	Fetal Brain Female	brain
21	chr12:105858200-105864000	Weak transcription	Fetal Brain Male	brain

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