Variant report

Variant	rs17154330
Chromosome Location	chr7:80350087-80350088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16886843	0.83[AFR][1000 genomes]
rs16886848	0.83[AFR][1000 genomes]
rs17154356	1.00[AFR][1000 genomes]
rs17154368	1.00[AFR][1000 genomes]
rs17154373	0.83[AFR][1000 genomes]
rs6969946	1.00[AFR][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	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80342600-80351000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:80348600-80351600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:80348600-80351600	Enhancers	Osteobl	bone
4	chr7:80348600-80352200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:80348600-80353200	Enhancers	NHDF-Ad	bronchial
6	chr7:80348600-80354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:80348600-80354800	Enhancers	HSMMtube	muscle
8	chr7:80348600-80356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80348800-80350400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:80348800-80351400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:80348800-80351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:80348800-80352000	Weak transcription	Fetal Brain Male	brain
13	chr7:80349000-80350600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:80349000-80350600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:80349000-80350600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:80349000-80350800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:80349000-80350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:80349000-80350800	Weak transcription	HMEC	breast
19	chr7:80349000-80350800	Weak transcription	NH-A	brain
20	chr7:80349000-80352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:80349200-80350600	Enhancers	A549	lung
22	chr7:80349600-80350600	Weak transcription	HSMM	muscle
23	chr7:80349600-80350600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:80349600-80351600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:80349600-80353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:80349600-80355200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:80349600-80355600	Enhancers	NHLF	lung
28	chr7:80349800-80350800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:80349800-80353600	Enhancers	NHEK	skin
30	chr7:80350000-80350800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:80350000-80351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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