Variant report

Variant	rs2282537
Chromosome Location	chr11:120187971-120187972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120186835..120191514-chr11:120193209..120197461,6	MCF-7	breast:
2	chr11:120105974..120107720-chr11:120187522..120190071,3	K562	blood:
3	chr11:120106132..120109259-chr11:120185529..120190071,6	K562	blood:
4	chr11:120187467..120189508-chr11:120207099..120208640,2	MCF-7	breast:
5	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12421941	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12575199	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17245504	0.92[GIH][hapmap]
rs17245511	0.93[EUR][1000 genomes]
rs61898343	0.93[EUR][1000 genomes]
rs61898345	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs717051	0.90[EUR][1000 genomes]
rs717052	0.91[CEU][hapmap];0.94[GIH][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2282537	ARHGEF12	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120185400-120189000	Enhancers	Fetal Heart	heart
2	chr11:120185600-120188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:120186800-120188800	Enhancers	Right Atrium	heart
4	chr11:120187000-120188000	Enhancers	Fetal Muscle Leg	muscle
5	chr11:120187000-120188400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:120187000-120188400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120187000-120188400	Enhancers	Fetal Lung	lung
8	chr11:120187000-120188400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:120187000-120188600	Enhancers	Ovary	ovary
10	chr11:120187000-120188600	Enhancers	Stomach Mucosa	stomach
11	chr11:120187000-120188600	Enhancers	HMEC	breast
12	chr11:120187200-120188000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:120187200-120188000	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:120187200-120188200	Enhancers	Aorta	Aorta
15	chr11:120187200-120188200	Enhancers	Pancreas	Pancrea
16	chr11:120187200-120188400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:120187200-120188400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:120187200-120188400	Enhancers	Fetal Stomach	stomach
19	chr11:120187200-120188400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:120187200-120188600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:120187200-120188800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:120187200-120188800	Enhancers	Colonic Mucosa	Colon
23	chr11:120187200-120188800	Enhancers	Left Ventricle	heart
24	chr11:120187200-120189600	Enhancers	Fetal Intestine Small	intestine
25	chr11:120187200-120189800	Enhancers	Fetal Intestine Large	intestine
26	chr11:120187400-120188000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:120187400-120188200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:120187400-120188200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:120187400-120188200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:120187400-120188200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:120187400-120188200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:120187400-120188200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:120187400-120188200	Flanking Active TSS	NHEK	skin
34	chr11:120187400-120188400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:120187400-120188400	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr11:120187400-120188400	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:120187400-120188400	Enhancers	HSMMtube	muscle
38	chr11:120187400-120188400	Enhancers	Osteobl	bone
39	chr11:120187400-120188600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:120187400-120188600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:120187400-120188600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:120187400-120188600	Enhancers	Brain Anterior Caudate	brain
43	chr11:120187400-120188600	Enhancers	Colon Smooth Muscle	Colon
44	chr11:120187400-120188600	Enhancers	NHDF-Ad	bronchial
45	chr11:120187600-120188000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:120187600-120188000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:120187600-120188000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:120187600-120188000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr11:120187600-120188000	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr11:120187600-120188000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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