Variant report

Variant	rs9971532
Chromosome Location	chr11:85929490-85929491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85919307..85921347-chr11:85927954..85931480,3	K562	blood:
2	chr11:85752653..85753611-chr11:85929070..85929776,5	K562	blood:
3	chr11:85929241..85931144-chr11:85954793..85957791,2	K562	blood:
4	chr11:85910961..85912588-chr11:85929116..85931057,2	K562	blood:
5	chr11:85923282..85925341-chr11:85927794..85930196,2	K562	blood:
6	chr11:85914104..85917156-chr11:85928953..85931838,4	K562	blood:
7	chr11:85923282..85925473-chr11:85927794..85931182,3	K562	blood:
8	chr11:85928674..85931066-chr11:85947922..85950050,2	K562	blood:
9	chr11:85778712..85781091-chr11:85928233..85931498,3	MCF-7	breast:
10	chr11:85565568..85566246-chr11:85929310..85930212,3	MCF-7	breast:
11	chr11:85925600..85928219-chr11:85928375..85931276,2	K562	blood:
12	chr11:85652479..85653394-chr11:85929080..85930321,4	MCF-7	breast:
13	chr11:85929225..85931546-chr11:85955122..85957307,2	MCF-7	breast:
14	chr11:85752985..85755269-chr11:85927440..85930207,2	MCF-7	breast:
15	chr11:85840916..85843834-chr11:85928490..85931115,2	K562	blood:
16	chr11:85752823..85753580-chr11:85929279..85930126,3	MCF-7	breast:
17	chr11:85919307..85921316-chr11:85929229..85931480,2	K562	blood:
18	chr11:85652141..85652700-chr11:85929245..85930061,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction
ENSG00000150676	Chromatin interaction
ENSG00000215504	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10501612	0.91[ASN][1000 genomes]
rs10898447	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11234588	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11234601	0.95[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12290614	1.00[JPT][hapmap]
rs12293081	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12293708	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12295985	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs41452444	1.00[ASW][hapmap]
rs61904289	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7110770	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs7946477	0.86[JPT][hapmap]

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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9971532	CCDC81	cis	cerebellum	SCAN
rs9971532	C11orf73	cis	Liver	GTEx
rs9971532	PTCHD1	cis	Liver	GTEx
rs9971532	C11orf73	cis	cerebellum	SCAN
rs9971532	hCT1814592.1	trans	multi-tissue	Pritchard
rs9971532	C11orf73	Cis_1M	lymphoblastoid	RTeQTL
rs9971532	hCT2336784	trans	multi-tissue	Pritchard
rs9971532	C11orf73	cis	multi-tissue	Pritchard

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85921600-85929800	Weak transcription	Fetal Intestine Large	intestine
2	chr11:85923600-85929800	Weak transcription	NHEK	skin
3	chr11:85926200-85929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:85928800-85930000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:85928800-85930000	Enhancers	Hela-S3	cervix
6	chr11:85929000-85929800	Active TSS	Brain Substantia Nigra	brain
7	chr11:85929000-85930000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:85929000-85930200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:85929000-85930800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:85929000-85932200	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:85929200-85929600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:85929200-85929600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:85929200-85929600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:85929200-85929600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:85929200-85929600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:85929200-85929600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:85929200-85929600	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr11:85929200-85929600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:85929200-85929600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr11:85929200-85929600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:85929200-85929600	Enhancers	Fetal Muscle Leg	muscle
22	chr11:85929200-85929600	Enhancers	Fetal Stomach	stomach
23	chr11:85929200-85929600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:85929200-85929600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:85929200-85929800	Flanking Active TSS	Liver	Liver
26	chr11:85929200-85929800	Active TSS	Colon Smooth Muscle	Colon
27	chr11:85929200-85929800	Enhancers	Pancreas	Pancrea
28	chr11:85929200-85929800	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:85929200-85929800	Active TSS	HSMMtube	muscle
30	chr11:85929200-85930000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:85929200-85930000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:85929200-85930000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:85929200-85930000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:85929200-85930000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:85929200-85930000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:85929200-85930000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:85929200-85930000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:85929200-85930000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:85929200-85930000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:85929200-85930000	Enhancers	Placenta	Placenta
41	chr11:85929200-85930000	Enhancers	Fetal Thymus	thymus
42	chr11:85929200-85930000	Enhancers	Left Ventricle	heart
43	chr11:85929200-85930000	Enhancers	Psoas Muscle	Psoas
44	chr11:85929200-85930000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:85929200-85930000	Enhancers	Spleen	Spleen
46	chr11:85929200-85930000	Active TSS	A549	lung
47	chr11:85929200-85930000	Enhancers	HSMM	muscle
48	chr11:85929200-85930000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:85929200-85930000	Flanking Active TSS	Osteobl	bone
50	chr11:85929200-85930200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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