Variant report

Variant	rs1530731
Chromosome Location	chr3:100708127-100708128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1375512	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16843153	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17339226	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2595907	1.00[CEU][hapmap]
rs2713749	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2713758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2713798	1.00[CEU][hapmap]
rs55687619	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55936420	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56077494	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56237429	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59476872	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6774218	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6787197	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6787878	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73143038	0.80[EUR][1000 genomes]
rs73143044	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73143061	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73143062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73143064	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73143072	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73144908	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73144910	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73144915	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73149160	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7621518	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7623956	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7625454	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7637274	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7641631	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7643050	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs959713	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100700400-100711200	Weak transcription	Esophagus	oesophagus
3	chr3:100701800-100711000	Weak transcription	Aorta	Aorta
4	chr3:100702000-100710200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:100702000-100710800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:100702200-100708200	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:100702200-100709800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:100702200-100711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:100702400-100708800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:100702400-100708800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:100702400-100710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:100703600-100709600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:100703600-100709600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:100703800-100709600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:100703800-100709600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:100705200-100708400	Weak transcription	NHDF-Ad	bronchial
17	chr3:100705200-100709600	Weak transcription	HSMMtube	muscle
18	chr3:100705400-100708600	Weak transcription	Osteobl	bone
19	chr3:100706800-100708600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:100707000-100708600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:100707200-100711200	Weak transcription	Gastric	stomach
22	chr3:100707200-100711200	Weak transcription	Lung	lung
23	chr3:100707400-100708200	Weak transcription	NHEK	skin
24	chr3:100707400-100709600	Weak transcription	Fetal Stomach	stomach
25	chr3:100708000-100709000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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