Variant report

Variant	rs17154031
Chromosome Location	chr7:80128609-80128610
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59508016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61451619	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73369040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73369046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73369047	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73369057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73369080	1.00[AFR][1000 genomes];1.00[AMR][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:36 , 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	chr7:80127200-80129400	Enhancers	NH-A	brain
8	chr7:80127400-80129000	Enhancers	Fetal Heart	heart
9	chr7:80127400-80129400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:80127400-80130000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:80127400-80130000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:80127400-80130000	Enhancers	HMEC	breast
13	chr7:80127400-80130000	Enhancers	NHDF-Ad	bronchial
14	chr7:80127600-80128800	Enhancers	A549	lung
15	chr7:80127600-80129200	Enhancers	Fetal Intestine Small	intestine
16	chr7:80127600-80129600	Enhancers	Fetal Intestine Large	intestine
17	chr7:80127600-80130200	Enhancers	HUVEC	blood vessel
18	chr7:80127600-80130400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:80127800-80128800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:80127800-80129600	Enhancers	Hela-S3	cervix
21	chr7:80128000-80129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:80128000-80129200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:80128000-80130000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:80128200-80129000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:80128200-80129200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:80128400-80129000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:80128400-80129200	Enhancers	HepG2	liver
28	chr7:80128400-80129200	Flanking Active TSS	NHEK	skin
29	chr7:80128400-80129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:80128400-80129800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:80128400-80129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:80128600-80128800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:80128600-80129000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:80128600-80129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:80128600-80129600	Enhancers	Adipose Nuclei	Adipose
36	chr7:80128600-80129800	Enhancers	HSMMtube	muscle

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