Variant report

Variant	rs73192730
Chromosome Location	chr3:105235627-105235628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105102643..105105325-chr3:105235464..105238023,2	MCF-7	breast:
2	chr3:105087236..105090040-chr3:105234697..105237400,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11710166	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11710857	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11713535	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11714275	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714277	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11715283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11716035	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11718405	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11718457	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11719817	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1898655	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1955135	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2200473	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2399049	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895300	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34029528	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3772542	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772544	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772547	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481177	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526297	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986655	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59322590	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs598425	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61522255	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6771935	0.85[ASN][1000 genomes]
rs6771987	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6786815	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6794273	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73175407	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175433	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175435	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175442	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175449	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175451	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175463	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175491	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73177465	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73177470	0.85[ASN][1000 genomes]
rs73177478	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73177489	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73177494	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73179378	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73179384	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181374	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181376	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181380	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181387	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181395	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181396	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181397	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181401	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73183103	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73183108	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183112	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183114	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183115	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183185	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183186	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183187	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183188	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183198	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73185106	0.83[EUR][1000 genomes]
rs73185114	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73185115	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73189021	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73189028	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73189034	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73189060	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73192717	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73192733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192737	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192751	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73192754	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192770	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978436	0.89[AMR][1000 genomes];0.92[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	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105210200-105243200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:105222200-105260600	Weak transcription	Fetal Kidney	kidney
4	chr3:105222800-105246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:105223800-105274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:105224400-105239600	Weak transcription	GM12878-XiMat	blood
7	chr3:105225800-105236000	Weak transcription	Liver	Liver
8	chr3:105229600-105244600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:105229600-105260400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:105230200-105262600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:105231000-105237400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:105232200-105245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:105232200-105245400	Weak transcription	NHEK	skin
14	chr3:105232200-105245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:105232200-105274000	Weak transcription	HSMMtube	muscle
16	chr3:105232400-105237600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:105232400-105237600	Weak transcription	Fetal Heart	heart
18	chr3:105232600-105242400	Weak transcription	NHLF	lung
19	chr3:105232800-105236000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:105232800-105243200	Weak transcription	NH-A	brain
21	chr3:105233000-105235800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:105233000-105237800	Enhancers	A549	lung
23	chr3:105233200-105236000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:105233200-105237600	Weak transcription	NHDF-Ad	bronchial
25	chr3:105233200-105243200	Weak transcription	HMEC	breast
26	chr3:105233400-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:105233400-105250600	Weak transcription	HSMM	muscle
28	chr3:105233600-105237400	Enhancers	Brain Hippocampus Middle	brain
29	chr3:105233800-105237800	Enhancers	Brain Substantia Nigra	brain
30	chr3:105234200-105260400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:105234400-105236400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:105234600-105236000	Weak transcription	Brain Anterior Caudate	brain
33	chr3:105234600-105236200	Weak transcription	Brain Angular Gyrus	brain
34	chr3:105234600-105236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:105234600-105244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:105234600-105244600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:105234600-105260600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:105234600-105261000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:105234600-105274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:105234800-105235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:105235000-105236000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:105235600-105236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:105235600-105236400	Enhancers	Osteobl	bone
44	chr3:105235600-105236600	Enhancers	Fetal Lung	lung
45	chr3:105235600-105237800	Enhancers	Brain Cingulate Gyrus	brain

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