Variant report

Variant	rs17017782
Chromosome Location	chr1:211763053-211763054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211762463..211765854-chr1:211778944..211781006,3	K562	blood:
2	chr1:211751102..211752800-chr1:211760616..211763110,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11119772	1.00[JPT][hapmap]
rs12091351	0.92[JPT][hapmap]
rs12562288	0.92[JPT][hapmap]
rs17017739	1.00[JPT][hapmap]
rs17017750	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs2278652	0.92[JPT][hapmap]
rs3738198	0.92[JPT][hapmap]
rs60420078	0.83[ASN][1000 genomes]
rs60912058	0.81[AMR][1000 genomes]
rs7519865	0.92[JPT][hapmap]
rs7530862	0.92[JPT][hapmap]
rs7543376	1.00[JPT][hapmap]

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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211754000-211765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:211757400-211765400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:211757400-211775200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:211757600-211763600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:211758600-211765400	Weak transcription	Placenta	Placenta
6	chr1:211759600-211764800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:211760600-211763400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:211760600-211763400	Weak transcription	K562	blood
9	chr1:211760600-211763600	Weak transcription	GM12878-XiMat	blood
10	chr1:211762000-211763400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:211762000-211763400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:211762000-211763600	Enhancers	NHEK	skin
13	chr1:211762000-211763800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:211762000-211764600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:211762000-211764600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:211762000-211764600	Enhancers	HMEC	breast
17	chr1:211762200-211765400	Enhancers	Osteobl	bone
18	chr1:211762200-211766600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:211762400-211763200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:211762600-211763600	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:211762600-211763800	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:211762600-211764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:211762600-211764600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:211762600-211765400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:211762800-211763600	Enhancers	Fetal Thymus	thymus
26	chr1:211762800-211763600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:211762800-211764400	Enhancers	Adipose Nuclei	Adipose
28	chr1:211762800-211766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:211763000-211763600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:211763000-211764000	Enhancers	HSMM	muscle
31	chr1:211763000-211764200	Enhancers	Primary B cells from cord blood	blood
32	chr1:211763000-211764200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:211763000-211764200	Enhancers	NHDF-Ad	bronchial

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