Variant report

Variant	rs2191327
Chromosome Location	chr7:78026633-78026634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1005269	0.96[CEU][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10231406	0.96[CEU][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10234248	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10234367	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260692	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10265453	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10272154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281742	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281997	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540636	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13223430	0.88[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16886001	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17150618	0.86[EUR][1000 genomes]
rs17150625	0.86[JPT][hapmap]
rs17150638	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17150651	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17150656	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17349903	0.82[CEU][hapmap]
rs2058279	0.86[EUR][1000 genomes]
rs2068892	0.85[CEU][hapmap];0.91[GIH][hapmap];0.86[EUR][1000 genomes]
rs2191324	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2191326	0.82[CEU][hapmap]
rs2215378	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571911	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28613654	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28752122	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62468258	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466170	0.86[EUR][1000 genomes]
rs6466176	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6466177	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6466179	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6967651	0.93[ASN][1000 genomes]
rs7781496	0.88[CEU][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7784121	0.82[CEU][hapmap]
rs7789307	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7789774	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794948	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7795420	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7801594	0.81[CEU][hapmap]
rs7807494	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7810778	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9640699	0.85[CEU][hapmap];0.93[GIH][hapmap];0.86[EUR][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	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	nsv1033518	chr7:78013657-78038797	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2191327	MDH2	cis	cerebellum	SCAN
rs2191327	RSBN1L	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78015800-78028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:78017400-78029800	Weak transcription	Aorta	Aorta
3	chr7:78019000-78026800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:78023000-78047200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:78023200-78028000	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:78023600-78028600	Weak transcription	Ovary	ovary
7	chr7:78024200-78026800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:78024200-78035600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:78025000-78027600	Enhancers	Brain Anterior Caudate	brain
10	chr7:78025000-78028800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:78025400-78027600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:78025600-78026800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:78025600-78027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:78025600-78027600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:78025600-78028000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:78025800-78026800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:78025800-78027400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:78026000-78027400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:78026000-78028400	Weak transcription	Fetal Heart	heart
20	chr7:78026600-78029000	Enhancers	Brain Inferior Temporal Lobe	brain

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