Variant report

Variant	rs2131427
Chromosome Location	chr9:72596454-72596455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72596256..72598713-chr9:72601006..72603750,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10217790	0.92[ASN][1000 genomes]
rs1027282	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511978	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868348	0.97[ASN][1000 genomes]
rs11141101	0.97[ASN][1000 genomes]
rs11141106	0.99[ASN][1000 genomes]
rs11141122	0.99[ASN][1000 genomes]
rs11141127	0.82[ASN][1000 genomes]
rs11141246	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11141260	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11788010	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789512	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11790329	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12336812	0.99[ASN][1000 genomes]
rs12353051	0.99[ASN][1000 genomes]
rs12353052	0.99[ASN][1000 genomes]
rs12551035	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12551904	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12552060	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12553082	0.84[EUR][1000 genomes]
rs12554412	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12554849	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12555905	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12683555	0.99[ASN][1000 genomes]
rs12683959	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686422	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686803	0.99[ASN][1000 genomes]
rs17442733	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17443354	0.99[ASN][1000 genomes]
rs17522643	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17522671	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2131428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172432	0.99[ASN][1000 genomes]
rs2201232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220736	0.98[ASN][1000 genomes]
rs2220737	0.99[ASN][1000 genomes]
rs4256644	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4397475	0.84[EUR][1000 genomes]
rs4457397	0.84[EUR][1000 genomes]
rs4458932	0.84[EUR][1000 genomes]
rs55897975	0.84[EUR][1000 genomes]
rs56200303	0.84[EUR][1000 genomes]
rs56380265	0.99[ASN][1000 genomes]
rs56399669	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57388366	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61210535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62572583	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62572585	0.99[ASN][1000 genomes]
rs62572586	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62572589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62572598	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62572600	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62572601	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62572604	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62572605	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62572631	0.84[EUR][1000 genomes]
rs62572633	0.84[EUR][1000 genomes]
rs62572634	0.84[EUR][1000 genomes]
rs66542913	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7026012	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026154	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709193	0.84[EUR][1000 genomes]
rs73456376	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954376	0.84[EUR][1000 genomes]
rs954378	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1035668	chr9:72555053-72632796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1051004	chr9:72557761-72632015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72587000-72596800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:72591200-72598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:72591400-72596600	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:72592200-72596600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:72592200-72596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:72592200-72596600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:72593200-72596600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:72594400-72597400	Enhancers	NHLF	lung
9	chr9:72594600-72597000	Enhancers	Ovary	ovary
10	chr9:72595400-72597200	Enhancers	NHDF-Ad	bronchial
11	chr9:72595600-72597400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:72595600-72597600	Enhancers	HSMM	muscle
13	chr9:72595800-72597000	Enhancers	HSMMtube	muscle
14	chr9:72595800-72597400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:72595800-72597800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:72596000-72596800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:72596000-72597400	Enhancers	NH-A	brain
18	chr9:72596200-72597000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr9:72596200-72597200	Enhancers	HMEC	breast
20	chr9:72596200-72597200	Enhancers	NHEK	skin
21	chr9:72596200-72597400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:72596200-72597400	Enhancers	Osteobl	bone
23	chr9:72596400-72597000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:72596400-72597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:72596400-72597200	Enhancers	Fetal Lung	lung
26	chr9:72596400-72597200	Enhancers	HUVEC	blood vessel
27	chr9:72596400-72597400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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