Variant report

Variant	rs12343628
Chromosome Location	chr9:116694730-116694731
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116693796..116697472-chr9:116701649..116704014,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10513222	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10817531	0.81[EUR][1000 genomes]
rs10817532	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10817535	0.85[EUR][1000 genomes]
rs10982007	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13290326	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1330169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1888161	0.80[ASN][1000 genomes]
rs2065184	0.83[EUR][1000 genomes]
rs2183364	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2418259	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2900568	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2900569	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4979298	0.81[EUR][1000 genomes]
rs7029830	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7047895	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7853127	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs871806	0.96[ASN][1000 genomes]
rs871808	0.96[ASN][1000 genomes]
rs882980	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9942975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116691400-116704200	Weak transcription	HSMM	muscle
2	chr9:116691600-116695800	Enhancers	Pancreas	Pancrea
3	chr9:116691800-116696200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:116691800-116696600	Enhancers	Ovary	ovary
5	chr9:116691800-116709000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:116692000-116695000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:116692000-116695400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:116692000-116704200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:116692000-116719400	Weak transcription	HMEC	breast
10	chr9:116692400-116716800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:116692400-116717200	Weak transcription	A549	lung
12	chr9:116692600-116694800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:116692600-116694800	Weak transcription	NHDF-Ad	bronchial
14	chr9:116692600-116695200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:116692600-116695200	Weak transcription	Adipose Nuclei	Adipose
16	chr9:116692600-116695200	Weak transcription	Liver	Liver
17	chr9:116692600-116695600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:116692800-116695600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:116693000-116694800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:116693000-116695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:116693000-116695600	Weak transcription	Spleen	Spleen
22	chr9:116693200-116695000	Weak transcription	Osteobl	bone
23	chr9:116693200-116695200	Weak transcription	NHLF	lung
24	chr9:116693200-116695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116693200-116705400	Weak transcription	Psoas Muscle	Psoas
26	chr9:116693400-116695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:116693400-116696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:116693400-116697800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:116693600-116695000	Weak transcription	Aorta	Aorta
30	chr9:116693600-116695000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:116693600-116697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:116693600-116697200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:116693600-116698000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:116693600-116703400	Weak transcription	NH-A	brain
35	chr9:116693600-116704200	Weak transcription	Fetal Lung	lung
36	chr9:116693800-116694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:116693800-116695400	Weak transcription	Gastric	stomach
38	chr9:116693800-116696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:116693800-116697200	Weak transcription	Fetal Intestine Small	intestine
40	chr9:116693800-116697400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:116693800-116714200	Weak transcription	Fetal Kidney	kidney
42	chr9:116694200-116694800	Enhancers	Stomach Mucosa	stomach
43	chr9:116694200-116695200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:116694200-116704200	Weak transcription	Fetal Stomach	stomach
45	chr9:116694600-116695400	Weak transcription	Lung	lung
46	chr9:116694600-116696000	Enhancers	HUVEC	blood vessel

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