Variant report

Variant	rs72901930
Chromosome Location	chr6:81233232-81233233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1020044	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10498922	0.96[EUR][1000 genomes]
rs10498923	0.95[EUR][1000 genomes]
rs11752368	0.95[EUR][1000 genomes]
rs11752731	0.94[EUR][1000 genomes]
rs11963755	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963784	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963880	0.89[EUR][1000 genomes]
rs11966105	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966395	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969171	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370139	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436876	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545108	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17754916	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17755364	0.96[EUR][1000 genomes]
rs17755544	0.95[EUR][1000 genomes]
rs17811367	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17811451	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2118146	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4538675	0.94[EUR][1000 genomes]
rs4596443	0.87[EUR][1000 genomes]
rs4607395	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639292	0.94[EUR][1000 genomes]
rs56293655	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57091572	0.91[EUR][1000 genomes]
rs57688593	0.91[EUR][1000 genomes]
rs57846754	0.91[EUR][1000 genomes]
rs57961232	0.88[EUR][1000 genomes]
rs58167343	0.95[EUR][1000 genomes]
rs59084260	0.85[AFR][1000 genomes]
rs6927060	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928662	0.90[AFR][1000 genomes]
rs72900010	0.91[EUR][1000 genomes]
rs72900057	0.89[EUR][1000 genomes]
rs72901972	0.95[EUR][1000 genomes]
rs72901979	0.95[EUR][1000 genomes]
rs72901986	0.94[EUR][1000 genomes]
rs72901988	0.94[EUR][1000 genomes]
rs72903917	0.94[EUR][1000 genomes]
rs72903939	0.92[EUR][1000 genomes]
rs72903959	0.83[EUR][1000 genomes]
rs72903988	0.89[EUR][1000 genomes]
rs7765619	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768393	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768485	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443793	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9449036	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9449037	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9449038	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9449042	0.85[EUR][1000 genomes]
rs9449043	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9449044	0.90[AFR][1000 genomes]
rs9449045	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9449046	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9449049	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9449050	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998759	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv886311	chr6:81166178-81239971	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv886312	chr6:81166178-81309481	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv886313	chr6:81177227-81239971	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv463908	chr6:81232993-81287675	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv604054	chr6:81232993-81287675	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81230200-81234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81230400-81237800	Weak transcription	Pancreas	Pancrea
3	chr6:81230800-81234000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:81231400-81233600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:81231600-81233400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:81231800-81233400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:81231800-81233400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:81231800-81233600	Enhancers	Fetal Stomach	stomach
9	chr6:81231800-81233600	Enhancers	HSMM	muscle
10	chr6:81231800-81233800	Enhancers	NHDF-Ad	bronchial
11	chr6:81231800-81234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:81231800-81234000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:81231800-81234200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:81231800-81234200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:81232000-81233800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:81232000-81234000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:81232000-81234200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:81232200-81233800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:81232400-81233400	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:81232400-81233600	Enhancers	Colon Smooth Muscle	Colon
21	chr6:81232400-81233600	Enhancers	Osteobl	bone
22	chr6:81232400-81233800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:81232400-81234000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:81232400-81234000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:81232400-81234000	Enhancers	Fetal Heart	heart
26	chr6:81232400-81234000	Enhancers	HSMMtube	muscle
27	chr6:81232400-81234000	Enhancers	NHLF	lung
28	chr6:81232400-81234200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:81232400-81235800	Enhancers	Fetal Brain Male	brain
30	chr6:81232600-81233400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:81232600-81233600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:81232600-81233600	Enhancers	Fetal Muscle Leg	muscle
33	chr6:81232600-81233800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:81232600-81233800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr6:81232800-81233400	Active TSS	Brain Angular Gyrus	brain
36	chr6:81232800-81233400	Active TSS	Brain Substantia Nigra	brain
37	chr6:81232800-81233600	Active TSS	Brain Anterior Caudate	brain
38	chr6:81232800-81233600	Active TSS	Fetal Kidney	kidney
39	chr6:81232800-81234000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:81232800-81234000	Enhancers	Right Ventricle	heart
41	chr6:81232800-81234200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:81232800-81234200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:81232800-81237000	Weak transcription	Fetal Lung	lung
44	chr6:81233000-81233400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:81233000-81233400	Active TSS	Aorta	Aorta
46	chr6:81233000-81233400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:81233000-81233600	Flanking Active TSS	Left Ventricle	heart
48	chr6:81233000-81233600	Flanking Active TSS	Ovary	ovary
49	chr6:81233000-81233600	Enhancers	HMEC	breast
50	chr6:81233000-81233800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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