Variant report

Variant	rs7947180
Chromosome Location	chr11:120093013-120093014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120091006..120093784-chr11:120097633..120101741,5	K562	blood:
2	chr11:120041303..120043768-chr11:120091508..120094206,2	MCF-7	breast:
3	chr11:120081505..120083755-chr11:120092635..120094681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7114392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121914	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932327	0.97[AFR][1000 genomes]
rs873058	1.00[AMR][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	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
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:120084600-120093200	Genic enhancers	Fetal Intestine Small	intestine
5	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
6	chr11:120085000-120093200	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr11:120086400-120097000	Weak transcription	NHEK	skin
8	chr11:120086600-120095800	Weak transcription	NH-A	brain
9	chr11:120087200-120093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:120087600-120094000	Enhancers	Stomach Mucosa	stomach
11	chr11:120088400-120094400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:120089800-120095600	Weak transcription	Lung	lung
13	chr11:120089800-120099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:120090200-120095800	Weak transcription	Fetal Heart	heart
15	chr11:120090400-120093800	Weak transcription	Psoas Muscle	Psoas
16	chr11:120090400-120095400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120090600-120093600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:120090800-120095400	Weak transcription	Fetal Lung	lung
19	chr11:120090800-120095600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:120090800-120099600	Weak transcription	NHDF-Ad	bronchial
21	chr11:120091000-120094600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:120091000-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:120091000-120096600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:120091000-120097400	Weak transcription	NHLF	lung
25	chr11:120091000-120097600	Genic enhancers	Liver	Liver
26	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:120091200-120095400	Weak transcription	HSMM	muscle
28	chr11:120091200-120096800	Enhancers	Adipose Nuclei	Adipose
29	chr11:120091200-120097000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:120091400-120095000	Strong transcription	Fetal Stomach	stomach
31	chr11:120091400-120095400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:120091600-120093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:120091600-120093800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:120091600-120095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:120091800-120095200	Weak transcription	Placenta	Placenta
36	chr11:120091800-120097600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:120092000-120093800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:120092000-120094600	Weak transcription	Left Ventricle	heart
39	chr11:120092000-120094600	Enhancers	Spleen	Spleen
40	chr11:120092000-120095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:120092200-120095600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:120092200-120095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:120092400-120093600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:120092400-120094400	Weak transcription	HepG2	liver
45	chr11:120092400-120094600	Weak transcription	Ovary	ovary
46	chr11:120092600-120093600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr11:120092600-120093800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:120092600-120093800	Weak transcription	Right Ventricle	heart
49	chr11:120092600-120093800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:120092600-120095600	Weak transcription	GM12878-XiMat	blood

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