Variant report

Variant	rs59078755
Chromosome Location	chr1:85753491-85753492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85742429..85744810-chr1:85753404..85755662,2	K562	blood:

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11161568	1.00[EUR][1000 genomes]
rs1403952	1.00[EUR][1000 genomes]
rs1554596	1.00[EUR][1000 genomes]
rs17121967	1.00[EUR][1000 genomes]
rs58278399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61753571	1.00[EUR][1000 genomes]
rs61753572	1.00[EUR][1000 genomes]
rs6656799	1.00[EUR][1000 genomes]
rs6670564	1.00[EUR][1000 genomes]
rs72952681	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:85749600-85755000	Weak transcription	A549	lung
7	chr1:85749800-85755000	Weak transcription	Hela-S3	cervix
8	chr1:85749800-85755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:85750000-85753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:85750000-85761400	Weak transcription	Lung	lung
11	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
12	chr1:85750200-85753800	Weak transcription	Stomach Mucosa	stomach
13	chr1:85750400-85754200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:85750800-85755800	Weak transcription	Esophagus	oesophagus
16	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
17	chr1:85751000-85754000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:85751000-85754400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
20	chr1:85752400-85760600	Weak transcription	Fetal Stomach	stomach
21	chr1:85752800-85755400	Enhancers	NHEK	skin
22	chr1:85753200-85753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:85753200-85753600	Weak transcription	HMEC	breast

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