Variant report

Variant	rs1334522
Chromosome Location	chr7:80349383-80349384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11762052	0.84[EUR][1000 genomes]
rs11765496	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971792	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11982937	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11983007	0.84[EUR][1000 genomes]
rs11983746	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12055973	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056187	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1527464	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527465	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534313	0.85[EUR][1000 genomes]
rs16886849	0.96[EUR][1000 genomes]
rs17154337	0.96[EUR][1000 genomes]
rs1830224	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880957	0.92[EUR][1000 genomes]
rs1880958	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817557	0.85[EUR][1000 genomes]
rs3823476	0.87[EUR][1000 genomes]
rs55810607	0.81[EUR][1000 genomes]
rs6974236	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73370841	0.85[EUR][1000 genomes]
rs73370844	0.81[EUR][1000 genomes]
rs73386847	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954410	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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:27 , 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	chr7:80348600-80350000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:80348600-80350000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80348600-80351600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:80348600-80351600	Enhancers	Osteobl	bone
6	chr7:80348600-80352200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:80348600-80353200	Enhancers	NHDF-Ad	bronchial
8	chr7:80348600-80354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:80348600-80354800	Enhancers	HSMMtube	muscle
10	chr7:80348600-80356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:80348800-80349600	Enhancers	HSMM	muscle
12	chr7:80348800-80349600	Weak transcription	NHLF	lung
13	chr7:80348800-80349800	Weak transcription	NHEK	skin
14	chr7:80348800-80350400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80348800-80351400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:80348800-80351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:80348800-80352000	Weak transcription	Fetal Brain Male	brain
18	chr7:80349000-80350600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:80349000-80350600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:80349000-80350600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:80349000-80350800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:80349000-80350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:80349000-80350800	Weak transcription	HMEC	breast
24	chr7:80349000-80350800	Weak transcription	NH-A	brain
25	chr7:80349000-80352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:80349200-80349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:80349200-80350600	Enhancers	A549	lung

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