Variant report

Variant	rs758710
Chromosome Location	chr7:77980510-77980511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2068892	0.81[CEU][hapmap]
rs2191324	0.81[CEU][hapmap]
rs2361378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9640699	0.81[CEU][hapmap]

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	nsv607654	chr7:77537964-78014329	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs758710	MDH2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:77953600-77986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:77964000-77981800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:77972800-78001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:77975600-77992000	Weak transcription	Ovary	ovary
5	chr7:77976800-77980600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:77977800-77984800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:77978600-77980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:77978600-77982200	Enhancers	Brain Anterior Caudate	brain
9	chr7:77979000-77981600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr7:77979400-77980800	Enhancers	Fetal Intestine Large	intestine
11	chr7:77979600-77980600	Enhancers	Brain Substantia Nigra	brain
12	chr7:77979600-77981000	Enhancers	Fetal Intestine Small	intestine
13	chr7:77979800-77982600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:77979800-77985200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:77979800-77986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:77980000-77981000	Enhancers	Pancreas	Pancrea
17	chr7:77980000-77981600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:77980000-77986400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:77980200-77981400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:77980200-77985200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:77980400-77980600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:77980400-77981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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