Variant report

Variant	rs73369081
Chromosome Location	chr7:80129488-80129489
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10241126	1.00[EUR][1000 genomes]
rs10250561	1.00[EUR][1000 genomes]
rs10257864	1.00[EUR][1000 genomes]
rs10258421	1.00[EUR][1000 genomes]
rs10258426	1.00[EUR][1000 genomes]
rs10268151	1.00[EUR][1000 genomes]
rs10268450	1.00[EUR][1000 genomes]
rs11975442	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978272	1.00[EUR][1000 genomes]
rs11979641	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982052	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28671281	1.00[EUR][1000 genomes]
rs4563810	0.81[EUR][1000 genomes]
rs57988109	1.00[EUR][1000 genomes]
rs73369030	1.00[EUR][1000 genomes]
rs73369032	1.00[EUR][1000 genomes]
rs73371005	0.90[EUR][1000 genomes]
rs7783668	1.00[EUR][1000 genomes]
rs7796785	1.00[EUR][1000 genomes]
rs7803173	0.90[EUR][1000 genomes]
rs7809064	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv464604	chr7:80121347-80142217	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv607681	chr7:80121347-80142217	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80126000-80129800	Enhancers	Osteobl	bone
2	chr7:80126000-80130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:80126200-80130000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:80126200-80130000	Enhancers	NHLF	lung
5	chr7:80126200-80130400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:80126600-80129600	Enhancers	HSMM	muscle
7	chr7:80127400-80130000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:80127400-80130000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:80127400-80130000	Enhancers	HMEC	breast
10	chr7:80127400-80130000	Enhancers	NHDF-Ad	bronchial
11	chr7:80127600-80129600	Enhancers	Fetal Intestine Large	intestine
12	chr7:80127600-80130200	Enhancers	HUVEC	blood vessel
13	chr7:80127600-80130400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:80127800-80129600	Enhancers	Hela-S3	cervix
15	chr7:80128000-80130000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:80128400-80129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:80128400-80129800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:80128400-80129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:80128600-80129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:80128600-80129600	Enhancers	Adipose Nuclei	Adipose
21	chr7:80128600-80129800	Enhancers	HSMMtube	muscle
22	chr7:80128800-80129800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:80129000-80130000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:80129000-80130000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:80129000-80130000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:80129200-80129800	Enhancers	A549	lung
27	chr7:80129200-80130200	Enhancers	NHEK	skin
28	chr7:80129200-80147800	Weak transcription	Left Ventricle	heart

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