Variant report

Variant	rs73175451
Chromosome Location	chr3:105270477-105270478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11710166	0.88[ASN][1000 genomes]
rs11710857	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11713535	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11714275	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714277	0.85[ASN][1000 genomes]
rs11715283	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11716035	0.85[ASN][1000 genomes]
rs11718405	0.85[ASN][1000 genomes]
rs11718457	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11719817	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1898655	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1955135	0.88[ASN][1000 genomes]
rs2200473	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2399049	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895300	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34029528	0.85[ASN][1000 genomes]
rs3772542	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481177	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526297	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986655	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59322590	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs598425	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61522255	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6771935	0.85[ASN][1000 genomes]
rs6771987	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6786815	0.85[ASN][1000 genomes]
rs6794273	0.88[ASN][1000 genomes]
rs73175407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175463	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175491	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73177465	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73177470	0.85[ASN][1000 genomes]
rs73177478	0.85[ASN][1000 genomes]
rs73177489	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73177494	0.85[ASN][1000 genomes]
rs73179378	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73179384	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181374	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181376	0.85[ASN][1000 genomes]
rs73181380	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181387	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181395	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181396	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181397	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181401	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73183103	0.85[ASN][1000 genomes]
rs73183108	0.88[ASN][1000 genomes]
rs73183112	0.88[ASN][1000 genomes]
rs73183114	0.88[ASN][1000 genomes]
rs73183115	0.88[ASN][1000 genomes]
rs73183185	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183186	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183187	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183188	0.88[ASN][1000 genomes]
rs73183198	0.88[ASN][1000 genomes]
rs73185114	0.88[ASN][1000 genomes]
rs73185115	0.88[ASN][1000 genomes]
rs73189021	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73189028	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73189034	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73189060	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73192717	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73192730	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192733	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192737	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192751	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73192754	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978436	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][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	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1008291	chr3:105261480-105272449	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105223800-105274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:105232200-105274000	Weak transcription	HSMMtube	muscle
4	chr3:105234600-105274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:105237800-105274600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:105237800-105275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:105242000-105293600	Weak transcription	Lung	lung
8	chr3:105242400-105280400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:105244800-105275800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:105246600-105284400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:105248000-105281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:105248400-105291200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:105249400-105278600	Weak transcription	Small Intestine	intestine
14	chr3:105249800-105284000	Weak transcription	Fetal Stomach	stomach
15	chr3:105249800-105285200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:105251800-105274400	Weak transcription	Dnd41	blood
17	chr3:105253200-105273000	Weak transcription	Gastric	stomach
18	chr3:105254000-105273000	Weak transcription	Fetal Lung	lung
19	chr3:105254800-105279800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:105257400-105272400	Weak transcription	NHDF-Ad	bronchial
21	chr3:105257800-105271400	Weak transcription	Stomach Mucosa	stomach
22	chr3:105258000-105274600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr3:105258600-105273600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:105258800-105271800	Strong transcription	HUVEC	blood vessel
25	chr3:105258800-105274400	Strong transcription	Liver	Liver
26	chr3:105258800-105274400	Strong transcription	NH-A	brain
27	chr3:105259000-105271200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:105259000-105273400	Strong transcription	Osteobl	bone
29	chr3:105259400-105272200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:105259400-105272400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:105259400-105272600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr3:105259400-105274000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:105259400-105274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:105259400-105281200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:105259800-105272400	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:105260800-105297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
38	chr3:105261800-105272400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:105262400-105274200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:105263000-105271000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:105263000-105274200	Weak transcription	Fetal Kidney	kidney
42	chr3:105263000-105295400	Weak transcription	Brain Angular Gyrus	brain
43	chr3:105263200-105271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:105263400-105271200	Weak transcription	Aorta	Aorta
45	chr3:105264400-105273400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr3:105264600-105273600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:105265400-105271000	Weak transcription	Brain Substantia Nigra	brain
48	chr3:105265400-105273000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:105265800-105274000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:105267000-105271000	Weak transcription	Duodenum Mucosa	Duodenum

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