Variant report

Variant	rs9971501
Chromosome Location	chr11:36334103-36334104
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	chr11:36329173..36331205-chr11:36333341..36336022,2	K562	blood:
2	chr11:36333444..36335695-chr11:36337127..36339214,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1005985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.94[EUR][1000 genomes]
rs10501150	1.00[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs12293053	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1374377	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1446670	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes]
rs1466037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[EUR][1000 genomes]
rs17742101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1975541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[EUR][1000 genomes]
rs2166532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs567260	0.81[TSI][hapmap]
rs7943002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3414530	chr11:36330262-36334650	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9971501	GLDC	trans	lymphoblastoid	seeQTL
rs9971501	WT1	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36323000-36334200	Weak transcription	Brain Anterior Caudate	brain
2	chr11:36323000-36335200	Weak transcription	Colonic Mucosa	Colon
3	chr11:36327200-36335200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:36329000-36335200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:36330000-36335200	Enhancers	HMEC	breast
6	chr11:36330800-36334400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:36331400-36335200	Enhancers	NH-A	brain
8	chr11:36331400-36335400	Enhancers	HSMM	muscle
9	chr11:36331600-36335000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:36331600-36335200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:36331800-36334200	Weak transcription	Fetal Lung	lung
12	chr11:36331800-36335200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:36331800-36335400	Weak transcription	Pancreas	Pancrea
14	chr11:36332000-36338600	Weak transcription	Gastric	stomach
15	chr11:36332800-36334600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:36332800-36336400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:36333200-36335600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:36333600-36334800	Enhancers	A549	lung
19	chr11:36333600-36335000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:36333600-36336400	Enhancers	Fetal Intestine Large	intestine
21	chr11:36333800-36334200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:36333800-36334200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:36333800-36334400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:36333800-36334400	Enhancers	Brain Angular Gyrus	brain
25	chr11:36333800-36334600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:36333800-36334600	Enhancers	Hela-S3	cervix
27	chr11:36333800-36334600	Enhancers	Osteobl	bone
28	chr11:36333800-36335600	Enhancers	Brain Hippocampus Middle	brain
29	chr11:36333800-36336000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:36333800-36336200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:36333800-36336200	Enhancers	HSMMtube	muscle
32	chr11:36333800-36336400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:36333800-36336800	Enhancers	Fetal Intestine Small	intestine
34	chr11:36333800-36337200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:36334000-36334200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:36334000-36334400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:36334000-36334800	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:36334000-36335200	Bivalent Enhancer	NHEK	skin
39	chr11:36334000-36336600	Enhancers	Ovary	ovary

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