Variant report

Variant	rs11142464
Chromosome Location	chr9:73089662-73089663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73039010..73040852-chr9:73086991..73089902,2	K562	blood:
2	chr9:73025306..73027654-chr9:73088271..73090967,2	K562	blood:
3	chr9:73035839..73037455-chr9:73087792..73090364,2	MCF-7	breast:
4	chr9:73089437..73091298-chr9:73095044..73096704,2	K562	blood:

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

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

rs_ID	r²[population]
rs11142420	0.81[EUR][1000 genomes]
rs11142431	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142434	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11142435	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11142441	0.87[EUR][1000 genomes]
rs11142443	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11142451	0.87[EUR][1000 genomes]
rs11142452	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11142453	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11142454	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11142462	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11142465	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11142467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12238429	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13291393	0.83[EUR][1000 genomes]
rs13298975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1556739	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34775197	0.81[EUR][1000 genomes]
rs4744598	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4745011	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4745012	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9644995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73082600-73091600	Weak transcription	HSMMtube	muscle
2	chr9:73082600-73092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:73083600-73090800	Enhancers	Liver	Liver
4	chr9:73085000-73093800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:73085400-73090800	Enhancers	Stomach Mucosa	stomach
6	chr9:73085800-73093000	Weak transcription	Aorta	Aorta
7	chr9:73086000-73090200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:73086000-73091600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:73086000-73093000	Weak transcription	Ovary	ovary
10	chr9:73086000-73093800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:73086000-73094200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:73086200-73090200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:73086200-73092800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:73086200-73094000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:73086400-73094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:73086600-73097400	Enhancers	Left Ventricle	heart
17	chr9:73086800-73095800	Enhancers	Pancreas	Pancrea
18	chr9:73087200-73089800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:73087200-73097000	Enhancers	Right Atrium	heart
20	chr9:73087400-73090200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:73087800-73094600	Weak transcription	Osteobl	bone
22	chr9:73088000-73090000	Weak transcription	Adipose Nuclei	Adipose
23	chr9:73088000-73091800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:73088000-73092200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:73088000-73092800	Weak transcription	Brain Anterior Caudate	brain
26	chr9:73088000-73092800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:73088000-73093000	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:73088000-73093200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr9:73088600-73090600	Weak transcription	Lung	lung
30	chr9:73088600-73107200	Weak transcription	Gastric	stomach
31	chr9:73089200-73089800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:73089200-73090600	Enhancers	HepG2	liver
33	chr9:73089200-73091200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr9:73089400-73090000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:73089400-73090600	Weak transcription	Right Ventricle	heart
36	chr9:73089400-73090600	Enhancers	HUVEC	blood vessel
37	chr9:73089400-73090800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:73089400-73091000	Enhancers	Colon Smooth Muscle	Colon
39	chr9:73089600-73090000	Weak transcription	Psoas Muscle	Psoas
40	chr9:73089600-73090200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr9:73089600-73091000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr9:73089600-73093800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:73089600-73094200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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