Variant report

Variant	rs582282
Chromosome Location	chr11:86234604-86234605
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86233949..86236117-chr11:86381379..86384296,2	MCF-7	breast:
2	chr11:86209651..86211899-chr11:86233390..86235647,2	MCF-7	breast:
3	chr11:86219972..86222467-chr11:86232525..86235369,3	MCF-7	breast:
4	chr11:86233360..86235497-chr11:86510369..86512822,2	MCF-7	breast:
5	chr11:86197110..86198736-chr11:86234162..86236654,3	MCF-7	breast:
6	chr11:86227984..86231236-chr11:86233662..86235563,3	MCF-7	breast:
7	chr11:86224152..86227397-chr11:86232854..86235365,3	MCF-7	breast:
8	chr11:86213565..86215510-chr11:86233907..86235455,2	K562	blood:
9	chr11:86232940..86235698-chr11:86318097..86321251,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10751139	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234691	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2446224	0.85[CHB][hapmap]
rs2446225	0.90[CHB][hapmap]
rs2446230	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs2511082	0.85[CHB][hapmap];0.92[CHD][hapmap]
rs4944588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs583594	0.89[CHB][hapmap]
rs584953	0.90[CHB][hapmap]
rs587362	0.86[ASN][1000 genomes]
rs590750	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601646	0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs610790	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs611730	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs614995	0.90[CHB][hapmap];0.95[CHD][hapmap]
rs616794	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs620054	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs630454	0.83[ASN][1000 genomes]
rs631082	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs632873	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs633708	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638492	0.86[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641541	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[ASN][1000 genomes]
rs643414	0.88[ASN][1000 genomes]
rs647561	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs651758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs653715	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs658324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660372	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs661163	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs663208	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.80[LWK][hapmap];0.86[ASN][1000 genomes]
rs664613	0.90[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.80[LWK][hapmap];0.86[ASN][1000 genomes]
rs669325	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.86[ASN][1000 genomes]
rs675775	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs676106	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs677301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[ASN][1000 genomes]
rs677643	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs679977	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs681333	0.86[ASN][1000 genomes]
rs683899	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528182	chr11:86234604-86259006	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs582282	PRSS23	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86223000-86238200	Weak transcription	Pancreas	Pancrea
2	chr11:86223800-86236800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86223800-86237000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:86227000-86234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:86227000-86235000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:86227000-86235600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86231000-86235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86231000-86235000	Weak transcription	Placenta	Placenta
9	chr11:86231000-86235200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:86231000-86235200	Weak transcription	Fetal Kidney	kidney
11	chr11:86231200-86235000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:86231200-86235000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:86231200-86235200	Weak transcription	Small Intestine	intestine
14	chr11:86231400-86235000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:86231400-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:86231600-86235000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:86231600-86235200	Weak transcription	Ovary	ovary
18	chr11:86231800-86234800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:86231800-86235000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:86231800-86235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:86231800-86235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:86231800-86236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:86231800-86237000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:86231800-86237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
26	chr11:86232000-86235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:86232200-86234800	Weak transcription	K562	blood
28	chr11:86232200-86238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:86232200-86250600	Weak transcription	Right Ventricle	heart
30	chr11:86233600-86235600	Enhancers	HUVEC	blood vessel
31	chr11:86234000-86235000	Enhancers	NHEK	skin
32	chr11:86234000-86235600	Enhancers	NH-A	brain
33	chr11:86234000-86236200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:86234000-86236400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:86234000-86236400	Enhancers	HSMM	muscle
36	chr11:86234200-86235200	Enhancers	NHDF-Ad	bronchial
37	chr11:86234200-86235400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:86234200-86235400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:86234200-86235400	Enhancers	Hela-S3	cervix
40	chr11:86234200-86235600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:86234200-86235600	Enhancers	Osteobl	bone
42	chr11:86234200-86236000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:86234200-86236000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:86234200-86236200	Enhancers	Fetal Lung	lung
45	chr11:86234200-86236200	Enhancers	HMEC	breast
46	chr11:86234200-86236200	Enhancers	HSMMtube	muscle
47	chr11:86234200-86236600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:86234400-86236200	Enhancers	Fetal Stomach	stomach
49	chr11:86234400-86236200	Enhancers	NHLF	lung
50	chr11:86234400-86236400	Enhancers	HepG2	liver

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