Variant report

Variant	rs4979294
Chromosome Location	chr9:116669785-116669786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116667918..116669920-chr9:116674262..116678050,3	MCF-7	breast:
2	chr9:116666574..116671426-chr9:116673853..116679155,7	K562	blood:
3	chr9:116663867..116665785-chr9:116668142..116670914,2	K562	blood:
4	chr9:116668474..116670101-chr9:116671366..116673510,2	MCF-7	breast:
5	chr9:116669450..116672733-chr9:116675778..116678171,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10120883	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10513222	0.83[EUR][1000 genomes]
rs10817531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10817535	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2065184	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2150014	0.85[ASN][1000 genomes]
rs2183364	0.83[EUR][1000 genomes]
rs35381898	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4979295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979298	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6478045	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6478046	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6478047	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7038501	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047895	0.83[EUR][1000 genomes]
rs7855811	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7870363	0.84[ASN][1000 genomes]
rs882980	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116651200-116675000	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:116653200-116671800	Weak transcription	Fetal Lung	lung
3	chr9:116653800-116674000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:116659400-116685400	Weak transcription	A549	lung
5	chr9:116662000-116671400	Weak transcription	Right Ventricle	heart
6	chr9:116664000-116674400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:116666400-116683800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:116666600-116683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:116667200-116674200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:116667400-116684400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:116667800-116673200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:116668000-116669800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:116668000-116669800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:116668000-116671400	Enhancers	Fetal Thymus	thymus
15	chr9:116668000-116681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:116668200-116669800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:116668400-116669800	Enhancers	HUVEC	blood vessel
18	chr9:116668400-116670000	Enhancers	Esophagus	oesophagus
19	chr9:116668400-116670200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:116668400-116670600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr9:116668600-116669800	Enhancers	HSMM	muscle
22	chr9:116668600-116670000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:116668600-116670000	Enhancers	Psoas Muscle	Psoas
24	chr9:116668600-116670000	Weak transcription	Thymus	Thymus
25	chr9:116668600-116670000	Enhancers	HSMMtube	muscle
26	chr9:116668600-116670200	Enhancers	Stomach Mucosa	stomach
27	chr9:116668600-116672600	Enhancers	Pancreas	Pancrea
28	chr9:116668800-116678800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr9:116669000-116669800	Enhancers	Liver	Liver
30	chr9:116669000-116669800	Enhancers	Right Atrium	heart
31	chr9:116669000-116670000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:116669000-116670000	Enhancers	Gastric	stomach
33	chr9:116669000-116670200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:116669000-116670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:116669000-116670200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr9:116669000-116670400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:116669200-116669800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116669200-116670000	Enhancers	Lung	lung
39	chr9:116669200-116670200	Strong transcription	Fetal Stomach	stomach
40	chr9:116669200-116670200	Enhancers	HMEC	breast
41	chr9:116669400-116669800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr9:116669400-116669800	Enhancers	Ovary	ovary
43	chr9:116669400-116669800	Enhancers	NHEK	skin
44	chr9:116669400-116670000	Enhancers	Small Intestine	intestine
45	chr9:116669400-116670000	Enhancers	Spleen	Spleen
46	chr9:116669400-116671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:116669400-116674400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:116669400-116675000	Weak transcription	Adipose Nuclei	Adipose
49	chr9:116669400-116675400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:116669400-116675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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