Variant report

Variant	rs73140544
Chromosome Location	chr3:23543077-23543078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10510539	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11129120	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11706875	0.94[ASN][1000 genomes]
rs11712991	0.99[ASN][1000 genomes]
rs11713090	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11715736	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11717508	0.96[ASN][1000 genomes]
rs11718111	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13316118	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13323077	0.86[EUR][1000 genomes]
rs1391756	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498810	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1692621	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1692646	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1692647	0.88[EUR][1000 genomes]
rs1692648	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1692649	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1695183	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1695185	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1695192	0.84[EUR][1000 genomes]
rs1695197	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1695203	0.87[EUR][1000 genomes]
rs17013268	0.92[ASN][1000 genomes]
rs17013425	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17194751	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995173	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995174	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995175	0.87[EUR][1000 genomes]
rs2055307	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28367247	0.99[ASN][1000 genomes]
rs4858517	0.94[ASN][1000 genomes]
rs56034809	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58130044	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58618629	0.94[ASN][1000 genomes]
rs58718028	0.83[EUR][1000 genomes]
rs59012069	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60028742	0.97[ASN][1000 genomes]
rs60137984	0.99[ASN][1000 genomes]
rs62255784	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62255785	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62255789	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62256025	0.98[ASN][1000 genomes]
rs62256972	0.98[ASN][1000 genomes]
rs62256973	0.99[ASN][1000 genomes]
rs62256975	0.99[ASN][1000 genomes]
rs62256976	0.99[ASN][1000 genomes]
rs62256977	0.99[ASN][1000 genomes]
rs62256982	0.99[ASN][1000 genomes]
rs62256990	0.96[ASN][1000 genomes]
rs62256991	0.94[ASN][1000 genomes]
rs66864142	0.92[ASN][1000 genomes]
rs6774454	0.99[ASN][1000 genomes]
rs6807859	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68093882	0.99[ASN][1000 genomes]
rs73139773	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73140507	0.93[ASN][1000 genomes]
rs73140523	0.97[ASN][1000 genomes]
rs7430428	0.99[ASN][1000 genomes]
rs7614195	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7636705	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7646541	0.86[EUR][1000 genomes]
rs778465	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs778473	0.90[ASN][1000 genomes]
rs778483	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs778489	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs778491	0.83[EUR][1000 genomes]
rs778492	0.92[ASN][1000 genomes]
rs778497	0.91[ASN][1000 genomes]
rs778502	0.91[ASN][1000 genomes]
rs778511	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778512	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778513	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778515	0.86[EUR][1000 genomes]
rs778516	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778517	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778518	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778519	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778520	0.86[EUR][1000 genomes]
rs778522	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778525	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778527	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801277	0.84[EUR][1000 genomes]
rs809640	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875443	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9631541	0.88[EUR][1000 genomes]
rs9862734	0.86[EUR][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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23526600-23554000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:23528600-23552200	Weak transcription	Ovary	ovary
3	chr3:23532200-23547800	Weak transcription	NHLF	lung
4	chr3:23536600-23557200	Weak transcription	Left Ventricle	heart
5	chr3:23537400-23551400	Weak transcription	Adipose Nuclei	Adipose
6	chr3:23537400-23559400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:23539600-23550000	Weak transcription	GM12878-XiMat	blood
8	chr3:23540400-23560200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:23541400-23543200	Enhancers	Psoas Muscle	Psoas
10	chr3:23542200-23543200	Enhancers	Fetal Muscle Leg	muscle
11	chr3:23542200-23543400	Strong transcription	Primary B cells from cord blood	blood
12	chr3:23542200-23544000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:23542200-23544200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:23542400-23543200	Enhancers	Right Atrium	heart
15	chr3:23542400-23543400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:23542400-23543400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:23542400-23543400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr3:23542400-23543400	Enhancers	HMEC	breast
19	chr3:23542600-23543200	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:23542600-23543200	Enhancers	HSMM	muscle
21	chr3:23542600-23543400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:23542600-23543400	Enhancers	Brain Hippocampus Middle	brain
23	chr3:23542600-23543400	Enhancers	NHEK	skin
24	chr3:23542800-23543200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:23542800-23543200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:23542800-23543400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:23542800-23543400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:23542800-23543400	Enhancers	Osteobl	bone
29	chr3:23542800-23543600	Enhancers	Hela-S3	cervix
30	chr3:23542800-23559200	Weak transcription	Brain Substantia Nigra	brain
31	chr3:23543000-23543200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:23543000-23543400	Enhancers	Fetal Heart	heart
33	chr3:23543000-23543400	Enhancers	NHDF-Ad	bronchial
34	chr3:23543000-23543600	Enhancers	Colon Smooth Muscle	Colon
35	chr3:23543000-23543600	Enhancers	HSMMtube	muscle
36	chr3:23543000-23552200	Weak transcription	Aorta	Aorta

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