Variant report

Variant	rs59473915
Chromosome Location	chr5:74248182-74248183
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	chr5:74245711..74248702-chr5:74259908..74262070,2	MCF-7	breast:
2	chr5:74245978..74248569-chr5:74531357..74534080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145700	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4565192	0.93[EUR][1000 genomes]
rs6880176	0.93[EUR][1000 genomes]
rs6895289	0.87[EUR][1000 genomes]
rs72766559	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72766577	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72766579	0.81[AMR][1000 genomes];0.90[EUR][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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74244200-74253400	Weak transcription	Aorta	Aorta
2	chr5:74244400-74249400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:74244400-74249800	Weak transcription	Ovary	ovary
4	chr5:74244400-74249800	Weak transcription	HSMM	muscle
5	chr5:74244600-74248400	Weak transcription	Placenta	Placenta
6	chr5:74244600-74249800	Weak transcription	Gastric	stomach
7	chr5:74244600-74249800	Weak transcription	Spleen	Spleen
8	chr5:74244600-74250000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:74244600-74251600	Enhancers	NHLF	lung
10	chr5:74245200-74248400	Weak transcription	Fetal Lung	lung
11	chr5:74245400-74256000	Enhancers	Fetal Intestine Large	intestine
12	chr5:74245600-74249600	Weak transcription	Liver	Liver
13	chr5:74245800-74249000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:74245800-74249400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:74245800-74255800	Enhancers	Stomach Mucosa	stomach
16	chr5:74246000-74249600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:74246000-74249800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:74246200-74248600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74246200-74249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:74246200-74251600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:74246200-74259200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:74246400-74249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:74246400-74249800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:74246400-74252000	Enhancers	NHDF-Ad	bronchial
25	chr5:74246600-74255000	Enhancers	HepG2	liver
26	chr5:74246600-74256600	Enhancers	Fetal Intestine Small	intestine
27	chr5:74247000-74249400	Weak transcription	NH-A	brain
28	chr5:74247000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:74247400-74249600	Weak transcription	Osteobl	bone
30	chr5:74247600-74250800	Enhancers	Fetal Kidney	kidney
31	chr5:74247800-74248600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:74247800-74248600	Enhancers	Fetal Stomach	stomach
33	chr5:74247800-74248800	Enhancers	Fetal Brain Female	brain
34	chr5:74247800-74250800	Enhancers	Pancreas	Pancrea
35	chr5:74247800-74253400	Enhancers	NHEK	skin
36	chr5:74248000-74248600	Enhancers	Small Intestine	intestine
37	chr5:74248000-74249600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:74248000-74253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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