Variant report

Variant	rs17117480
Chromosome Location	chr1:98502607-98502608
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10735795	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs10747494	1.00[EUR][1000 genomes]
rs10875119	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs11165926	1.00[EUR][1000 genomes]
rs17117438	1.00[EUR][1000 genomes]
rs17117486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117488	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117528	1.00[EUR][1000 genomes]
rs4269803	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs4304628	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4351683	1.00[EUR][1000 genomes]
rs4367807	0.84[YRI][hapmap]
rs4592283	1.00[EUR][1000 genomes]
rs55989986	1.00[EUR][1000 genomes]
rs57177728	1.00[EUR][1000 genomes]
rs57429463	1.00[EUR][1000 genomes]
rs57957567	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58211735	1.00[EUR][1000 genomes]
rs58260707	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58615096	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59190413	1.00[EUR][1000 genomes]
rs59429666	1.00[EUR][1000 genomes]
rs60366086	1.00[EUR][1000 genomes]
rs60945684	1.00[EUR][1000 genomes]
rs61234261	1.00[EUR][1000 genomes]
rs61469147	1.00[EUR][1000 genomes]
rs6604092	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs6604119	1.00[EUR][1000 genomes]
rs74106015	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106050	1.00[EUR][1000 genomes]
rs74106053	1.00[EUR][1000 genomes]
rs74106056	1.00[EUR][1000 genomes]
rs74106140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74107135	1.00[EUR][1000 genomes]
rs74107155	1.00[EUR][1000 genomes]
rs74107323	1.00[EUR][1000 genomes]
rs74107325	1.00[EUR][1000 genomes]
rs74107328	1.00[EUR][1000 genomes]
rs74107329	1.00[EUR][1000 genomes]
rs74107330	1.00[EUR][1000 genomes]
rs74107332	1.00[EUR][1000 genomes]
rs74107333	1.00[EUR][1000 genomes]
rs74108221	1.00[EUR][1000 genomes]
rs74108405	1.00[EUR][1000 genomes]
rs74108407	1.00[EUR][1000 genomes]
rs74110320	1.00[EUR][1000 genomes]
rs74110321	1.00[EUR][1000 genomes]
rs7511709	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7511752	1.00[EUR][1000 genomes]
rs7520550	1.00[EUR][1000 genomes]
rs7545029	0.84[YRI][hapmap]
rs7553943	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs9324376	1.00[EUR][1000 genomes]
rs9324377	1.00[EUR][1000 genomes]
rs9661407	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs9727974	1.00[EUR][1000 genomes]
rs9729900	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv470729	chr1:98461443-98564736	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv546874	chr1:98461443-98564736	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98497200-98509200	Weak transcription	HUVEC	blood vessel
2	chr1:98500200-98508200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:98501200-98506200	Weak transcription	NHDF-Ad	bronchial
4	chr1:98501600-98508200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:98501600-98509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:98501600-98509400	Weak transcription	HSMM	muscle
7	chr1:98501600-98509800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:98501800-98503400	Weak transcription	Fetal Brain Female	brain
9	chr1:98502400-98503600	Weak transcription	A549	lung
10	chr1:98502400-98503800	Weak transcription	Fetal Brain Male	brain
11	chr1:98502600-98508800	Weak transcription	Osteobl	bone

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