Variant report

Variant	rs73374868
Chromosome Location	chr7:80519636-80519637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11977933	1.00[AMR][1000 genomes]
rs57764212	1.00[AMR][1000 genomes]
rs61513924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374880	1.00[AMR][1000 genomes]
rs73374893	1.00[AMR][1000 genomes]
rs73374896	1.00[AMR][1000 genomes]
rs73374898	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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
2	chr7:80500200-80526200	Weak transcription	Psoas Muscle	Psoas
3	chr7:80500200-80534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:80506600-80524200	Weak transcription	Fetal Brain Male	brain
5	chr7:80506800-80520400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:80509600-80520000	Weak transcription	Fetal Lung	lung
7	chr7:80510000-80526000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:80510000-80526000	Weak transcription	Right Ventricle	heart
9	chr7:80512800-80520200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:80512800-80526000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:80513200-80520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:80513200-80520200	Weak transcription	Fetal Kidney	kidney
13	chr7:80513400-80520200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:80513400-80533400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:80513800-80530200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:80514200-80519800	Weak transcription	HSMMtube	muscle
17	chr7:80514200-80519800	Weak transcription	NHDF-Ad	bronchial
18	chr7:80514400-80519800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:80514600-80520000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:80514600-80529800	Weak transcription	Hela-S3	cervix
21	chr7:80514800-80529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:80515000-80520200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:80515000-80520400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:80515000-80525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:80515000-80546400	Weak transcription	Left Ventricle	heart
26	chr7:80515200-80519800	Weak transcription	Small Intestine	intestine
27	chr7:80515400-80519800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:80515400-80520000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:80515400-80520000	Weak transcription	Brain Substantia Nigra	brain
30	chr7:80515400-80520200	Weak transcription	NHEK	skin
31	chr7:80515400-80526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:80515600-80519800	Weak transcription	NHLF	lung
33	chr7:80515600-80520000	Weak transcription	Osteobl	bone
34	chr7:80516800-80520800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:80517000-80519800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:80517200-80519800	Weak transcription	HMEC	breast
37	chr7:80517600-80520200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:80517800-80524400	Weak transcription	NH-A	brain
39	chr7:80517800-80531200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:80517800-80544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:80518400-80522000	Weak transcription	HSMM	muscle
42	chr7:80518400-80531200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:80518600-80519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:80518600-80520000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:80519200-80519800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:80519200-80520000	Enhancers	A549	lung
47	chr7:80519400-80519800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:80519400-80519800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:80519400-80520200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:80519400-80520600	Enhancers	Colon Smooth Muscle	Colon

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