Variant report

Variant	rs2918916
Chromosome Location	chr2:96736568-96736569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1168966	0.84[EUR][1000 genomes]
rs1168967	0.82[EUR][1000 genomes]
rs13009727	0.81[AMR][1000 genomes]
rs13019188	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1657502	0.85[EUR][1000 genomes]
rs1724121	0.84[EUR][1000 genomes]
rs2140938	0.82[EUR][1000 genomes]
rs2252697	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2576437	0.85[EUR][1000 genomes]
rs2579547	0.81[ASN][1000 genomes]
rs2579549	0.83[EUR][1000 genomes]
rs2579550	0.84[EUR][1000 genomes]
rs2579552	0.87[EUR][1000 genomes]
rs2692893	0.83[EUR][1000 genomes]
rs2692934	0.86[EUR][1000 genomes]
rs2692936	0.84[EUR][1000 genomes]
rs2692937	0.84[EUR][1000 genomes]
rs2969490	0.85[EUR][1000 genomes]
rs749457	0.85[EUR][1000 genomes]
rs749459	0.80[EUR][1000 genomes]
rs7604842	0.81[AMR][1000 genomes]
rs893173	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2918916	GPAT2	cis	Muscle Skeletal	GTEx
rs2918916	ADRA2B	cis	Thyroid	GTEx
rs2918916	FAHD2CP	cis	lung	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96730200-96737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:96731600-96737200	Weak transcription	Spleen	Spleen
3	chr2:96734000-96737200	Weak transcription	Fetal Brain Male	brain
4	chr2:96734200-96738200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:96734200-96749400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:96734400-96738600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:96734400-96758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:96734800-96738000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:96735800-96738600	Enhancers	HSMM	muscle
10	chr2:96735800-96738800	Enhancers	Brain Hippocampus Middle	brain
11	chr2:96735800-96739000	Enhancers	Brain Anterior Caudate	brain
12	chr2:96735800-96739200	Enhancers	HSMMtube	muscle
13	chr2:96735800-96740200	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:96735800-96740400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:96736000-96737600	Enhancers	Brain Germinal Matrix	brain
16	chr2:96736000-96738600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:96736200-96736600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:96736400-96736800	Weak transcription	Brain Substantia Nigra	brain

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