Variant report

Variant	rs814678
Chromosome Location	chr9:116720351-116720352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116715151..116717735-chr9:116720132..116722087,2	MCF-7	breast:
2	chr9:116718450..116721380-chr9:116821221..116823441,2	MCF-7	breast:
3	chr9:116714888..116717726-chr9:116720128..116722306,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11792006	1.00[AMR][1000 genomes]
rs16910963	1.00[ASN][1000 genomes]
rs16910968	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16936489	1.00[ASN][1000 genomes]
rs2761689	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2761690	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7041279	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814679	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814681	1.00[EUR][1000 genomes]
rs814682	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814683	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814684	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814685	1.00[EUR][1000 genomes]
rs814687	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814688	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814689	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs814690	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814691	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814692	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814693	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814694	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs814695	1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116708800-116726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:116709000-116720600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:116710800-116723000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:116712800-116726400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:116714400-116721200	Enhancers	NHDF-Ad	bronchial
6	chr9:116714600-116720400	Enhancers	Osteobl	bone
7	chr9:116714600-116721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:116714600-116722400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:116715000-116721000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:116715000-116721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:116716000-116720800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:116716200-116730000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:116716600-116720600	Enhancers	Fetal Kidney	kidney
14	chr9:116716800-116721000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:116716800-116723000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:116717000-116720800	Enhancers	Adipose Nuclei	Adipose
17	chr9:116717000-116720800	Enhancers	Fetal Lung	lung
18	chr9:116717000-116721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:116717000-116723400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:116717000-116730000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:116717000-116733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:116717200-116720400	Weak transcription	Left Ventricle	heart
23	chr9:116717200-116720400	Weak transcription	Right Atrium	heart
24	chr9:116717200-116754600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:116717400-116735600	Weak transcription	Fetal Heart	heart
26	chr9:116717600-116730200	Weak transcription	Psoas Muscle	Psoas
27	chr9:116717800-116720800	Enhancers	HSMMtube	muscle
28	chr9:116717800-116724800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:116718000-116731400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr9:116718400-116720400	Enhancers	NHLF	lung
31	chr9:116718400-116728600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:116718600-116721000	Enhancers	Ovary	ovary
33	chr9:116718600-116731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:116718800-116720800	Enhancers	Aorta	Aorta
35	chr9:116719200-116721000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:116719200-116721200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:116719200-116721200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:116719400-116721000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:116719400-116721000	Enhancers	Fetal Stomach	stomach
40	chr9:116719400-116721000	Enhancers	Stomach Mucosa	stomach
41	chr9:116719400-116721000	Enhancers	HMEC	breast
42	chr9:116719400-116721200	Enhancers	Lung	lung
43	chr9:116719400-116721200	Enhancers	Pancreas	Pancrea
44	chr9:116719600-116720600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:116719600-116720800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:116719600-116720800	Enhancers	Fetal Muscle Leg	muscle
47	chr9:116719600-116720800	Flanking Active TSS	A549	lung
48	chr9:116719600-116721000	Enhancers	Liver	Liver
49	chr9:116719600-116721000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr9:116719600-116721200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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