Variant report

Variant	rs1024523
Chromosome Location	chr7:28054742-28054743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11971085	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17156218	0.91[AFR][1000 genomes]
rs1981575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57357637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59022997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302906	1.00[AFR][1000 genomes];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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28033200-28057000	Weak transcription	HMEC	breast
2	chr7:28035200-28057000	Weak transcription	Osteobl	bone
3	chr7:28035800-28058400	Weak transcription	Primary T cells from cord blood	blood
4	chr7:28037800-28055400	Weak transcription	Spleen	Spleen
5	chr7:28038600-28058800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:28039400-28055400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:28042600-28055600	Weak transcription	Aorta	Aorta
8	chr7:28045400-28056400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:28045400-28057600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:28045400-28060000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:28045400-28076200	Weak transcription	Gastric	stomach
12	chr7:28045600-28057000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:28045600-28057000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:28045600-28060000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:28045800-28055400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:28045800-28055600	Weak transcription	HSMMtube	muscle
17	chr7:28046000-28057000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:28046000-28058800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:28046000-28060000	Weak transcription	Ovary	ovary
20	chr7:28048000-28057000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:28052000-28055400	Weak transcription	Fetal Heart	heart
22	chr7:28052200-28055000	Enhancers	Right Atrium	heart
23	chr7:28052400-28055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:28052400-28055800	Weak transcription	Fetal Intestine Large	intestine
25	chr7:28052400-28056000	Weak transcription	Esophagus	oesophagus
26	chr7:28052400-28057800	Weak transcription	Lung	lung
27	chr7:28052400-28060000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:28052800-28055800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:28053000-28055600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:28053200-28055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:28053200-28055400	Weak transcription	Psoas Muscle	Psoas
32	chr7:28053200-28055600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:28053600-28055000	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr7:28053600-28056600	Weak transcription	NHDF-Ad	bronchial
35	chr7:28053800-28055000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:28053800-28057200	Weak transcription	A549	lung
37	chr7:28054000-28054800	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:28054000-28054800	ZNF genes & repeats	Fetal Stomach	stomach
39	chr7:28054000-28055200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr7:28054200-28054800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:28054200-28054800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:28054200-28054800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr7:28054200-28055000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr7:28054200-28055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:28054400-28054800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:28054400-28055000	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:28054400-28055800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:28054400-28056000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:28054400-28057800	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:28054600-28054800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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