Variant report

Variant	rs73122595
Chromosome Location	chr5:74334321-74334322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:87299754..87300537-chr5:74333585..74334466,2	MCF-7	breast:
2	chr5:74330454..74335475-chr5:74336350..74340630,5	MCF-7	breast:
3	chr5:74332922..74335648-chr5:74338677..74341293,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56778680	0.85[AFR][1000 genomes]
rs58279181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122553	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122560	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122563	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122599	0.85[AFR][1000 genomes];1.00[AMR][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74317600-74344200	Weak transcription	Ovary	ovary
3	chr5:74322800-74334400	Weak transcription	Aorta	Aorta
4	chr5:74328000-74339400	Weak transcription	Fetal Stomach	stomach
5	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:74329600-74338000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:74329800-74334800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:74330000-74339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:74330400-74339400	Weak transcription	Gastric	stomach
13	chr5:74330400-74340400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:74330400-74341800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:74330600-74337200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:74330600-74339400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:74330600-74339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:74330600-74339600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:74330600-74339600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:74330600-74341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:74330600-74342600	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:74330600-74345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:74331400-74345400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:74331600-74339800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:74331600-74344000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:74332600-74334400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:74332600-74340400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:74332600-74343200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:74332800-74338400	Weak transcription	Esophagus	oesophagus
34	chr5:74332800-74339600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:74333000-74335000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:74333000-74336800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:74333200-74334400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:74333200-74334400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:74333200-74336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:74333200-74337000	Weak transcription	Fetal Intestine Large	intestine
41	chr5:74333200-74337000	Weak transcription	NHLF	lung
42	chr5:74333200-74337200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:74333200-74339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:74333200-74339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:74333200-74344000	Weak transcription	Osteobl	bone
46	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:74333400-74335000	Weak transcription	Fetal Thymus	thymus
48	chr5:74333400-74337600	Weak transcription	NHDF-Ad	bronchial
49	chr5:74333400-74338200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:74333400-74339200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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