Variant report

Variant	rs10501153
Chromosome Location	chr11:36386755-36386756
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	chr11:36384425..36387121-chr11:36398360..36400122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135362	Chromatin interaction

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

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

rs_ID	r²[population]
rs10501151	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10501152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11033573	0.94[ASN][1000 genomes]
rs11600067	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11603150	0.84[ASN][1000 genomes]
rs11605962	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12575749	0.95[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1900337	0.89[CHD][hapmap]
rs331448	1.00[YRI][hapmap]
rs331483	1.00[YRI][hapmap]
rs35923330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5030450	1.00[YRI][hapmap]
rs5030458	1.00[YRI][hapmap]
rs61878710	0.86[ASN][1000 genomes]
rs7929961	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]

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
rs10501153	CD59	cis	cerebellum	SCAN
rs10501153	DEPDC7	cis	parietal	SCAN

Chromatin state (count:34 , 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	chr11:36382000-36386800	Enhancers	Fetal Intestine Large	intestine
6	chr11:36382000-36387800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:36382400-36386800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:36382400-36388600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:36382800-36387200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:36382800-36388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:36382800-36393800	Weak transcription	Brain Angular Gyrus	brain
12	chr11:36383800-36386800	Enhancers	NHEK	skin
13	chr11:36383800-36387600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:36383800-36388000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:36383800-36389000	Weak transcription	Ovary	ovary
16	chr11:36384000-36386800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:36384600-36387200	Weak transcription	Adipose Nuclei	Adipose
18	chr11:36384600-36387600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:36384800-36394000	Weak transcription	Gastric	stomach
20	chr11:36385200-36386800	Enhancers	Colonic Mucosa	Colon
21	chr11:36385200-36387200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:36385200-36387400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:36385200-36389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:36385200-36393800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:36385400-36394000	Weak transcription	Pancreas	Pancrea
26	chr11:36385600-36389000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:36385600-36389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:36385600-36389200	Weak transcription	Spleen	Spleen
29	chr11:36386400-36387600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:36386400-36393800	Weak transcription	HSMMtube	muscle
31	chr11:36386400-36394200	Weak transcription	Small Intestine	intestine
32	chr11:36386600-36389000	Weak transcription	Fetal Intestine Small	intestine
33	chr11:36386600-36393600	Weak transcription	Hela-S3	cervix
34	chr11:36386600-36394800	Weak transcription	Fetal Kidney	kidney

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