Variant report

Variant	rs72953621
Chromosome Location	chr11:86234552-86234553
allele	C/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
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10898485	0.82[AMR][1000 genomes]
rs11234665	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11234689	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11602862	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11606745	0.82[AMR][1000 genomes]
rs12222272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051434	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58410116	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[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: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	chr11:86230000-86234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:86230200-86234600	Weak transcription	Stomach Mucosa	stomach
9	chr11:86230800-86234600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:86231000-86234600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:86231000-86235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:86231000-86235000	Weak transcription	Placenta	Placenta
13	chr11:86231000-86235200	Weak transcription	Fetal Intestine Large	intestine
14	chr11:86231000-86235200	Weak transcription	Fetal Kidney	kidney
15	chr11:86231200-86235000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:86231200-86235000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:86231200-86235200	Weak transcription	Small Intestine	intestine
18	chr11:86231400-86235000	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:86231400-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:86231600-86235000	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:86231600-86235200	Weak transcription	Ovary	ovary
22	chr11:86231800-86234600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:86231800-86234600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:86231800-86234800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:86231800-86235000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:86231800-86235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:86231800-86235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:86231800-86236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:86231800-86237000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:86231800-86237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
32	chr11:86232000-86235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:86232200-86234800	Weak transcription	K562	blood
34	chr11:86232200-86238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:86232200-86250600	Weak transcription	Right Ventricle	heart
36	chr11:86232400-86234600	Enhancers	A549	lung
37	chr11:86233600-86235600	Enhancers	HUVEC	blood vessel
38	chr11:86234000-86234600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:86234000-86234600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:86234000-86235000	Enhancers	NHEK	skin
41	chr11:86234000-86235600	Enhancers	NH-A	brain
42	chr11:86234000-86236200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:86234000-86236400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr11:86234000-86236400	Enhancers	HSMM	muscle
45	chr11:86234200-86234600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:86234200-86235200	Enhancers	NHDF-Ad	bronchial
47	chr11:86234200-86235400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:86234200-86235400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:86234200-86235400	Enhancers	Hela-S3	cervix
50	chr11:86234200-86235600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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