Variant report

Variant	rs59309353
Chromosome Location	chr1:85360881-85360882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17117109	1.00[EUR][1000 genomes]
rs55837625	1.00[EUR][1000 genomes]
rs55965798	1.00[EUR][1000 genomes]
rs56822129	1.00[EUR][1000 genomes]
rs58206393	1.00[EUR][1000 genomes]
rs59651987	1.00[EUR][1000 genomes]
rs59717651	1.00[EUR][1000 genomes]
rs60736067	1.00[EUR][1000 genomes]
rs60739573	1.00[EUR][1000 genomes]
rs61296345	1.00[EUR][1000 genomes]
rs61506051	1.00[EUR][1000 genomes]
rs6693142	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74096200	1.00[EUR][1000 genomes]
rs74098703	1.00[EUR][1000 genomes]
rs74098707	1.00[EUR][1000 genomes]
rs7553171	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85359400-85363000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85359400-85363000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:85359600-85363000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:85359600-85363000	Weak transcription	HMEC	breast
5	chr1:85359800-85361400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:85359800-85363000	Weak transcription	NHEK	skin
7	chr1:85360200-85382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:85360400-85361000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr1:85360400-85361400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:85360600-85361000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr1:85360600-85361200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr1:85360600-85361200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr1:85360600-85361800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:85360800-85361000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:85360800-85361200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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

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