Variant report

Variant	rs73125247
Chromosome Location	chr5:74344492-74344493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74343721..74346711-chr5:74348510..74350046,2	MCF-7	breast:
2	chr5:74343645..74345260-chr5:74345382..74347449,2	K562	blood:
3	chr5:74331704..74333232-chr5:74343101..74344687,2	MCF-7	breast:
4	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
5	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250889	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55678791	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56858051	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60269760	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6861101	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73765651	0.89[EUR][1000 genomes]
rs7708899	0.89[EUR][1000 genomes]
rs7730062	0.89[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	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
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv275446	chr5:74339574-74345369	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:74330600-74345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:74331400-74345400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:74336600-74345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
11	chr5:74338600-74348000	Weak transcription	Psoas Muscle	Psoas
12	chr5:74339000-74347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:74339200-74345400	Weak transcription	Colonic Mucosa	Colon
14	chr5:74340200-74346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:74340600-74345400	Weak transcription	Fetal Stomach	stomach
16	chr5:74340600-74347400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:74341000-74346400	Weak transcription	Small Intestine	intestine
18	chr5:74341200-74345400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:74341400-74347400	Enhancers	HMEC	breast
20	chr5:74342000-74346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:74342200-74344600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:74342200-74345800	Weak transcription	Lung	lung
23	chr5:74342200-74347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:74342400-74344600	Weak transcription	Placenta	Placenta
25	chr5:74342400-74345800	Weak transcription	Esophagus	oesophagus
26	chr5:74342400-74346000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:74342600-74345200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:74342800-74345200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:74342800-74345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:74342800-74345400	Enhancers	Fetal Intestine Large	intestine
31	chr5:74342800-74345600	Weak transcription	Pancreas	Pancrea
32	chr5:74343200-74345600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:74343400-74345600	Weak transcription	NHEK	skin
34	chr5:74343400-74346200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:74343600-74344600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:74343600-74344600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:74343600-74344600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr5:74343600-74344800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
39	chr5:74343600-74344800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:74343600-74345800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr5:74343600-74345800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:74343800-74344800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:74343800-74344800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:74343800-74345000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:74343800-74345400	Enhancers	NH-A	brain
46	chr5:74343800-74346800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:74343800-74346800	Enhancers	Fetal Brain Female	brain
48	chr5:74344000-74344600	Active TSS	Brain Anterior Caudate	brain
49	chr5:74344000-74344600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr5:74344000-74344600	Genic enhancers	Thymus	Thymus

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