Variant report

Variant	rs17386581
Chromosome Location	chr1:85692467-85692468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85665362..85671529-chr1:85685487..85692910,10	MCF-7	breast:
2	chr1:85665411..85671906-chr1:85683759..85698338,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1674162	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17124475	0.87[EUR][1000 genomes]
rs17125070	0.84[EUR][1000 genomes]
rs17382610	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17386490	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61769452	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61769454	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61771963	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61771964	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61771966	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61771967	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61771968	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61771969	0.88[EUR][1000 genomes]
rs61771970	0.87[EUR][1000 genomes]
rs61771973	0.85[EUR][1000 genomes]
rs61771976	0.82[EUR][1000 genomes]
rs61771977	0.82[EUR][1000 genomes]
rs61771978	0.82[EUR][1000 genomes]
rs61771979	0.82[EUR][1000 genomes]
rs817456	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs817457	0.82[AMR][1000 genomes]
rs860140	0.90[AMR][1000 genomes];0.83[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85689400-85696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85690000-85692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:85690800-85696000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:85691400-85693000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:85691400-85696200	Weak transcription	Right Ventricle	heart
7	chr1:85691600-85694800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:85691600-85695200	Weak transcription	Pancreas	Pancrea
9	chr1:85691600-85695200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:85691600-85695600	Weak transcription	Left Ventricle	heart
11	chr1:85691600-85696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:85691600-85696200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:85691600-85696400	Weak transcription	Right Atrium	heart
14	chr1:85691800-85693200	Enhancers	Fetal Heart	heart
15	chr1:85691800-85697000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85692000-85694200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:85692000-85694600	Weak transcription	Stomach Mucosa	stomach
18	chr1:85692000-85695200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:85692000-85695400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:85692000-85695600	Weak transcription	Gastric	stomach
21	chr1:85692000-85696000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:85692000-85697400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:85692200-85694200	Weak transcription	Fetal Lung	lung
24	chr1:85692200-85695400	Weak transcription	K562	blood
25	chr1:85692200-85697400	Weak transcription	NHEK	skin

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