Variant report

Variant	rs525634
Chromosome Location	chr11:36391882-36391883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11033575	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs11033576	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1816923	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2554012	0.91[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.97[ASN][1000 genomes]
rs4756307	0.96[ASN][1000 genomes]
rs7115677	0.93[ASN][1000 genomes]
rs7925585	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs7930490	0.96[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs525634	DEPDC7	cis	parietal	SCAN
rs525634	CD59	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36378200-36393800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:36382800-36393800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:36384800-36394000	Weak transcription	Gastric	stomach
4	chr11:36385200-36393800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:36385400-36394000	Weak transcription	Pancreas	Pancrea
6	chr11:36386400-36393800	Weak transcription	HSMMtube	muscle
7	chr11:36386400-36394200	Weak transcription	Small Intestine	intestine
8	chr11:36386600-36393600	Weak transcription	Hela-S3	cervix
9	chr11:36386600-36394800	Weak transcription	Fetal Kidney	kidney
10	chr11:36387600-36393800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:36388000-36393800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:36388000-36397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:36388400-36393800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:36388600-36397000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:36389000-36393800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:36389600-36397600	Weak transcription	Spleen	Spleen
17	chr11:36389800-36392800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:36390000-36393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:36390000-36393600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:36390200-36393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:36391000-36393800	Weak transcription	Ovary	ovary
22	chr11:36391600-36394000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr11:36391600-36397400	Enhancers	Fetal Intestine Large	intestine
24	chr11:36391800-36392200	Weak transcription	Fetal Intestine Small	intestine
25	chr11:36391800-36393400	Enhancers	Rectal Mucosa Donor 31	rectum

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