Variant report

Variant	rs658324
Chromosome Location	chr11:86233889-86233890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86209651..86211899-chr11:86233390..86235647,2	MCF-7	breast:
2	chr11:86219972..86222467-chr11:86232525..86235369,3	MCF-7	breast:
3	chr11:86233360..86235497-chr11:86510369..86512822,2	MCF-7	breast:
4	chr11:86227984..86231236-chr11:86233662..86235563,3	MCF-7	breast:
5	chr11:86224152..86227397-chr11:86232854..86235365,3	MCF-7	breast:
6	chr11:86232940..86235698-chr11:86318097..86321251,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2446224	0.86[CHB][hapmap]
rs2446225	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2446230	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2511082	0.85[CHB][hapmap]
rs4944588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579719	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs582282	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]
rs583594	0.90[CHB][hapmap]
rs584953	0.90[CHB][hapmap]
rs587362	0.86[ASN][1000 genomes]
rs590750	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601646	0.90[CHB][hapmap]
rs610790	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs611730	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs614995	0.90[CHB][hapmap]
rs616794	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs620054	0.88[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];0.84[JPT][hapmap]
rs632873	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs633708	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638492	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641541	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs643414	0.88[ASN][1000 genomes]
rs647561	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs651758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs653715	0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs660372	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs661163	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs663208	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs664613	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs669325	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs675775	0.85[CHB][hapmap]
rs676106	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs677301	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs677643	0.90[CHB][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:4 , 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

No data

Chromatin state (count:59 , 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	chr11:86230000-86234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:86230200-86234600	Weak transcription	Stomach Mucosa	stomach
9	chr11:86230800-86234000	Weak transcription	HSMM	muscle
10	chr11:86230800-86234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:86230800-86234600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:86231000-86234000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:86231000-86234000	Weak transcription	NHEK	skin
14	chr11:86231000-86234200	Weak transcription	HMEC	breast
15	chr11:86231000-86234200	Weak transcription	HSMMtube	muscle
16	chr11:86231000-86234600	Weak transcription	Adipose Nuclei	Adipose
17	chr11:86231000-86235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:86231000-86235000	Weak transcription	Placenta	Placenta
19	chr11:86231000-86235200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:86231000-86235200	Weak transcription	Fetal Kidney	kidney
21	chr11:86231200-86234000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:86231200-86234200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:86231200-86235000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:86231200-86235000	Weak transcription	Fetal Intestine Small	intestine
25	chr11:86231200-86235200	Weak transcription	Small Intestine	intestine
26	chr11:86231400-86234000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:86231400-86234000	Weak transcription	NH-A	brain
28	chr11:86231400-86234200	Weak transcription	NHDF-Ad	bronchial
29	chr11:86231400-86234400	Weak transcription	Fetal Stomach	stomach
30	chr11:86231400-86234400	Weak transcription	NHLF	lung
31	chr11:86231400-86235000	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:86231400-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:86231600-86234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:86231600-86234200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:86231600-86235000	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:86231600-86235200	Weak transcription	Ovary	ovary
37	chr11:86231800-86234200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:86231800-86234600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:86231800-86234600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:86231800-86234800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:86231800-86235000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:86231800-86235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86231800-86235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:86231800-86236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:86231800-86237000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:86231800-86237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
48	chr11:86232000-86234000	Weak transcription	Aorta	Aorta
49	chr11:86232000-86234200	Weak transcription	Fetal Lung	lung
50	chr11:86232000-86235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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