Variant report

Variant	rs17101578
Chromosome Location	chr1:78718227-78718228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11807180	1.00[EUR][1000 genomes]
rs11807502	1.00[EUR][1000 genomes]
rs1340156	1.00[EUR][1000 genomes]
rs17098321	1.00[EUR][1000 genomes]
rs17098354	1.00[EUR][1000 genomes]
rs17101286	1.00[EUR][1000 genomes]
rs17101443	1.00[EUR][1000 genomes]
rs17101553	1.00[EUR][1000 genomes]
rs17101560	1.00[EUR][1000 genomes]
rs17101563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17101728	1.00[EUR][1000 genomes]
rs17101736	1.00[EUR][1000 genomes]
rs17101744	1.00[EUR][1000 genomes]
rs532357	1.00[EUR][1000 genomes]
rs55717739	1.00[EUR][1000 genomes]
rs74092352	1.00[EUR][1000 genomes]
rs74092353	1.00[EUR][1000 genomes]
rs7513372	1.00[EUR][1000 genomes]
rs9628620	1.00[EUR][1000 genomes]
rs9628623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78707200-78722600	Weak transcription	Pancreas	Pancrea
2	chr1:78716200-78720000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:78716600-78720800	Weak transcription	HSMMtube	muscle
4	chr1:78716800-78721000	Weak transcription	Ovary	ovary
5	chr1:78717200-78718600	ZNF genes & repeats	Lung	lung
6	chr1:78717400-78719400	Strong transcription	Liver	Liver
7	chr1:78717600-78718400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78717600-78718800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:78717600-78721000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:78717800-78718400	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:78717800-78722000	Enhancers	Hela-S3	cervix
12	chr1:78717800-78722000	Enhancers	NHDF-Ad	bronchial
13	chr1:78718000-78719000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:78718000-78719000	Enhancers	Osteobl	bone
15	chr1:78718200-78718400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:78718200-78719000	Bivalent Enhancer	HMEC	breast
17	chr1:78718200-78722400	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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