Variant report

Variant	rs57516014
Chromosome Location	chr7:28053278-28053279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57781449	1.00[AMR][1000 genomes]
rs58890703	1.00[AMR][1000 genomes]
rs60825597	1.00[AMR][1000 genomes]
rs60912742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474284	1.00[AMR][1000 genomes]
rs6975894	1.00[AMR][1000 genomes]
rs73302940	1.00[AMR][1000 genomes]
rs73683932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683933	1.00[AMR][1000 genomes]
rs73683935	1.00[AMR][1000 genomes]
rs73683936	1.00[AMR][1000 genomes]
rs73683937	1.00[AMR][1000 genomes]
rs73683938	1.00[AMR][1000 genomes]
rs73683940	1.00[AMR][1000 genomes]
rs73683941	1.00[AMR][1000 genomes]
rs73683943	1.00[AMR][1000 genomes]
rs73683949	1.00[AMR][1000 genomes]
rs73683952	1.00[AMR][1000 genomes]
rs73683973	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73684087	1.00[AMR][1000 genomes]
rs73685831	1.00[AMR][1000 genomes]
rs7794172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809470	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28031200-28054000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:28033000-28054400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:28033200-28057000	Weak transcription	HMEC	breast
4	chr7:28033400-28054200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:28035200-28057000	Weak transcription	Osteobl	bone
6	chr7:28035800-28058400	Weak transcription	Primary T cells from cord blood	blood
7	chr7:28036200-28054000	Weak transcription	Fetal Stomach	stomach
8	chr7:28037800-28055400	Weak transcription	Spleen	Spleen
9	chr7:28038600-28058800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:28039400-28055400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:28042600-28055600	Weak transcription	Aorta	Aorta
12	chr7:28045400-28053600	Weak transcription	Primary B cells from cord blood	blood
13	chr7:28045400-28054200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:28045400-28054200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:28045400-28056400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:28045400-28057600	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:28045400-28060000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:28045400-28076200	Weak transcription	Gastric	stomach
19	chr7:28045600-28057000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:28045600-28057000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:28045600-28060000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:28045800-28053800	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:28045800-28055400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:28045800-28055600	Weak transcription	HSMMtube	muscle
25	chr7:28046000-28057000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:28046000-28058800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:28046000-28060000	Weak transcription	Ovary	ovary
28	chr7:28047600-28054400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:28048000-28053800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:28048000-28057000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:28048800-28053800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:28051000-28053400	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:28051000-28054000	Enhancers	Colon Smooth Muscle	Colon
34	chr7:28051800-28053600	Enhancers	NHDF-Ad	bronchial
35	chr7:28052000-28055400	Weak transcription	Fetal Heart	heart
36	chr7:28052200-28053400	Enhancers	Liver	Liver
37	chr7:28052200-28055000	Enhancers	Right Atrium	heart
38	chr7:28052400-28055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:28052400-28055800	Weak transcription	Fetal Intestine Large	intestine
40	chr7:28052400-28056000	Weak transcription	Esophagus	oesophagus
41	chr7:28052400-28057800	Weak transcription	Lung	lung
42	chr7:28052400-28060000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:28052800-28054000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:28052800-28055800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:28053000-28053800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr7:28053000-28054600	Weak transcription	Left Ventricle	heart
47	chr7:28053000-28054600	Weak transcription	Right Ventricle	heart
48	chr7:28053000-28055600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:28053200-28055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:28053200-28055400	Weak transcription	Psoas Muscle	Psoas

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