Variant report

Variant	rs17151130
Chromosome Location	chr7:78237175-78237176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10485909	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11760911	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11763725	0.98[EUR][1000 genomes]
rs11770702	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11772194	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12668335	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12669908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1319590	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs1496774	0.85[JPT][hapmap]
rs17151134	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17151138	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17151148	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17151159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17151184	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151226	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17151238	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17151281	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17442142	1.00[ASW][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes]
rs1859934	1.00[AFR][1000 genomes]
rs321966	1.00[ASW][hapmap]
rs323132	1.00[AFR][1000 genomes]
rs323141	1.00[AFR][1000 genomes]
rs323142	1.00[AFR][1000 genomes]
rs323143	1.00[AFR][1000 genomes]
rs452398	1.00[AFR][1000 genomes]
rs4730412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4730427	1.00[ASW][hapmap]
rs73145155	1.00[AFR][1000 genomes]
rs73145158	1.00[AFR][1000 genomes]
rs73145166	1.00[AFR][1000 genomes]
rs961659	1.00[ASW][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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17151130	MDH2	cis	parietal	SCAN
rs17151130	POR	cis	parietal	SCAN
rs17151130	PKP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78219000-78258600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:78236000-78237600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:78236400-78237400	Enhancers	Brain Anterior Caudate	brain
4	chr7:78236600-78237400	Enhancers	Brain Hippocampus Middle	brain
5	chr7:78236800-78237400	Enhancers	Brain Substantia Nigra	brain
6	chr7:78236800-78240600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:78236800-78256400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:78237000-78237400	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:78237000-78237800	Enhancers	Brain Angular Gyrus	brain

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