Variant report

Variant	rs1819706
Chromosome Location	chr1:223597570-223597571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223595218..223598867-chr1:223599008..223602408,5	K562	blood:
2	chr1:223596035..223598867-chr1:223600908..223603274,2	K562	blood:
3	chr1:223306620..223308748-chr1:223595185..223597717,2	MCF-7	breast:
4	chr1:223589830..223593487-chr1:223595187..223598316,3	K562	blood:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11261269	0.86[EUR][1000 genomes]
rs12087387	0.86[EUR][1000 genomes]
rs12405882	0.82[EUR][1000 genomes]
rs1619161	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1713213	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1772288	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1772289	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2353204	0.86[EUR][1000 genomes]
rs2678369	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2678370	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34070817	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59584296	0.86[EUR][1000 genomes]
rs825136	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs825137	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs825141	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs825142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825144	0.83[ASN][1000 genomes]
rs825145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825146	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs825148	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs866637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr1:223594600-223597800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:223594800-223600600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:223595200-223599000	Weak transcription	Esophagus	oesophagus
4	chr1:223595200-223609200	Weak transcription	Right Atrium	heart
5	chr1:223596200-223597800	Enhancers	HSMMtube	muscle
6	chr1:223596400-223598400	Enhancers	HSMM	muscle
7	chr1:223596400-223599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:223597000-223597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:223597000-223597600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:223597000-223597600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:223597000-223597600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:223597000-223597600	Enhancers	Ovary	ovary
13	chr1:223597000-223597600	Enhancers	HMEC	breast
14	chr1:223597000-223597600	Enhancers	NHEK	skin
15	chr1:223597000-223597800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:223597000-223597800	Enhancers	Left Ventricle	heart
17	chr1:223597000-223598200	Enhancers	NHDF-Ad	bronchial
18	chr1:223597000-223598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:223597000-223599200	Enhancers	Osteobl	bone
20	chr1:223597000-223599600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:223597200-223597800	Enhancers	Fetal Heart	heart
22	chr1:223597200-223598400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:223597200-223602600	Weak transcription	Pancreas	Pancrea
24	chr1:223597400-223597600	Enhancers	Right Ventricle	heart
25	chr1:223597400-223603000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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