Variant report

Variant	rs60480667
Chromosome Location	chr9:73087048-73087049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73081016..73082623-chr9:73085751..73087573,2	K562	blood:
2	chr9:73039010..73040852-chr9:73086991..73089902,2	K562	blood:
3	chr9:73086029..73087560-chr9:73098200..73100795,2	K562	blood:
4	chr9:73034114..73036862-chr9:73085888..73088465,2	K562	blood:
5	chr9:73026142..73029023-chr9:73084919..73087597,3	MCF-7	breast:
6	chr9:73085757..73088696-chr9:73091890..73094537,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11142419	0.80[ASN][1000 genomes]
rs11142421	0.80[ASN][1000 genomes]
rs11999226	0.82[EUR][1000 genomes]
rs12004613	0.82[EUR][1000 genomes]
rs13288260	0.81[EUR][1000 genomes]
rs13302860	0.83[EUR][1000 genomes]
rs17054772	0.83[EUR][1000 genomes]
rs17455513	0.85[ASN][1000 genomes]
rs17455773	0.85[ASN][1000 genomes]
rs17534370	0.86[ASN][1000 genomes]
rs34112146	0.81[EUR][1000 genomes]
rs35069296	0.83[EUR][1000 genomes]
rs41530345	0.87[ASN][1000 genomes]
rs73462451	0.84[ASN][1000 genomes]
rs73462466	0.86[ASN][1000 genomes]
rs73462472	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73462475	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73462480	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73462482	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7853214	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs915489	0.86[ASN][1000 genomes]
rs915490	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73077600-73087800	Weak transcription	Gastric	stomach
2	chr9:73082600-73087600	Weak transcription	Esophagus	oesophagus
3	chr9:73082600-73091600	Weak transcription	HSMMtube	muscle
4	chr9:73082600-73092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:73082800-73087200	Weak transcription	HSMM	muscle
6	chr9:73082800-73087200	Weak transcription	Osteobl	bone
7	chr9:73083200-73087200	Weak transcription	Right Ventricle	heart
8	chr9:73083600-73090800	Enhancers	Liver	Liver
9	chr9:73085000-73093800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:73085200-73088000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:73085200-73088000	Enhancers	Brain Hippocampus Middle	brain
12	chr9:73085400-73087200	Weak transcription	Colonic Mucosa	Colon
13	chr9:73085400-73090800	Enhancers	Stomach Mucosa	stomach
14	chr9:73085800-73087600	Weak transcription	Lung	lung
15	chr9:73085800-73093000	Weak transcription	Aorta	Aorta
16	chr9:73086000-73087200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:73086000-73087200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:73086000-73087200	Weak transcription	Right Atrium	heart
19	chr9:73086000-73087400	Weak transcription	Brain Angular Gyrus	brain
20	chr9:73086000-73087600	Weak transcription	Psoas Muscle	Psoas
21	chr9:73086000-73090200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:73086000-73091600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:73086000-73093000	Weak transcription	Ovary	ovary
24	chr9:73086000-73093800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:73086000-73094200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:73086200-73087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:73086200-73087200	Weak transcription	Brain Anterior Caudate	brain
28	chr9:73086200-73087200	Weak transcription	Small Intestine	intestine
29	chr9:73086200-73087400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:73086200-73087400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:73086200-73087400	Weak transcription	Brain Substantia Nigra	brain
32	chr9:73086200-73087600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:73086200-73088000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr9:73086200-73089200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:73086200-73089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:73086200-73089600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr9:73086200-73090200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:73086200-73092800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:73086200-73094000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:73086400-73087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:73086400-73087600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:73086400-73089400	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:73086400-73089400	Weak transcription	HUVEC	blood vessel
44	chr9:73086400-73094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:73086600-73097400	Enhancers	Left Ventricle	heart
46	chr9:73086800-73087800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr9:73086800-73087800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:73086800-73095800	Enhancers	Pancreas	Pancrea
49	chr9:73087000-73087400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:73087000-73088000	Enhancers	Adipose Nuclei	Adipose

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