Variant report

Variant	rs7373413
Chromosome Location	chr3:134861679-134861680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10804635	0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1159404	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11712935	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12636613	0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12636659	0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs13063564	0.85[JPT][hapmap]
rs13076510	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs13087756	0.84[ASN][1000 genomes]
rs1392918	0.84[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1404577	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1501205	0.83[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1501206	0.84[ASN][1000 genomes]
rs1501207	0.90[JPT][hapmap]
rs2177693	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs2270882	0.86[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2291989	0.82[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2400443	0.82[YRI][hapmap]
rs3772638	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs3772640	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs3772647	0.86[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3772648	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3821503	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6801065	0.82[YRI][hapmap]
rs7372088	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7620133	0.82[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7642038	0.82[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs868909	0.83[LWK][hapmap];0.85[MKK][hapmap];0.82[YRI][hapmap]
rs9845406	0.85[JPT][hapmap]
rs9883173	0.85[JPT][hapmap]

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	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv877516	chr3:134689420-134918522	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv829731	chr3:134711713-134885064	Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7373413	AMOTL2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134823000-134880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:134855800-134862000	Weak transcription	GM12878-XiMat	blood
3	chr3:134859200-134869800	Enhancers	Liver	Liver
4	chr3:134859600-134873600	Weak transcription	Right Ventricle	heart
5	chr3:134860600-134863400	Weak transcription	Left Ventricle	heart
6	chr3:134860800-134864800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:134860800-134865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:134860800-134866000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:134860800-134866000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:134860800-134866200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:134860800-134866400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:134860800-134867800	Weak transcription	Psoas Muscle	Psoas
13	chr3:134861000-134866400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:134861000-134878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:134861400-134861800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:134861400-134866400	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:134861400-134866600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:134861400-134867200	Weak transcription	Fetal Brain Male	brain
19	chr3:134861600-134880600	Weak transcription	Fetal Brain Female	brain

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