Variant report

Variant	rs7929961
Chromosome Location	chr11:36388162-36388163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36376545..36378977-chr11:36387262..36390034,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10501151	0.82[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10501152	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10501153	1.00[ASW][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11033573	0.92[ASN][1000 genomes]
rs11600067	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11603150	0.82[ASN][1000 genomes]
rs11605962	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12575749	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1900337	0.89[CHD][hapmap]
rs331448	1.00[YRI][hapmap]
rs331483	1.00[YRI][hapmap]
rs35923330	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030450	1.00[YRI][hapmap]
rs5030458	1.00[YRI][hapmap]
rs61878710	0.84[ASN][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	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
rs7929961	DEPDC7	cis	parietal	SCAN
rs7929961	CD59	cis	cerebellum	SCAN

Chromatin state (count:29 , 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	chr11:36381400-36389000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:36381600-36388400	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:36381600-36389200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:36382400-36388600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:36382800-36388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:36382800-36393800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:36383800-36389000	Weak transcription	Ovary	ovary
9	chr11:36384800-36394000	Weak transcription	Gastric	stomach
10	chr11:36385200-36389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:36385200-36393800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:36385400-36394000	Weak transcription	Pancreas	Pancrea
13	chr11:36385600-36389000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:36385600-36389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:36385600-36389200	Weak transcription	Spleen	Spleen
16	chr11:36386400-36393800	Weak transcription	HSMMtube	muscle
17	chr11:36386400-36394200	Weak transcription	Small Intestine	intestine
18	chr11:36386600-36389000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:36386600-36393600	Weak transcription	Hela-S3	cervix
20	chr11:36386600-36394800	Weak transcription	Fetal Kidney	kidney
21	chr11:36386800-36389000	Weak transcription	Fetal Intestine Large	intestine
22	chr11:36387600-36389800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:36387600-36391600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:36387600-36393800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:36388000-36388400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:36388000-36389000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:36388000-36389200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:36388000-36393800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:36388000-36397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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