Variant report

Variant	rs60269760
Chromosome Location	chr5:74329116-74329117
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74315848..74318238-chr5:74328353..74330042,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs55678791	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56858051	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6861101	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73125247	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73765651	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7708899	1.00[EUR][1000 genomes]
rs7730062	1.00[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	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
3	nsv969994	chr5:74314591-74330479	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74315200-74332800	Weak transcription	NHDF-Ad	bronchial
3	chr5:74316400-74330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:74317200-74331400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:74317600-74344200	Weak transcription	Ovary	ovary
6	chr5:74317800-74332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:74319800-74330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:74319800-74330200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:74320200-74329800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:74320400-74329200	Weak transcription	Stomach Mucosa	stomach
11	chr5:74320400-74332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:74322800-74334400	Weak transcription	Aorta	Aorta
13	chr5:74323800-74330000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:74324000-74332400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:74324400-74333600	Strong transcription	Thymus	Thymus
16	chr5:74325200-74332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:74325400-74329600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:74325400-74329800	Weak transcription	Fetal Thymus	thymus
19	chr5:74325600-74331800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:74325600-74332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:74325800-74329800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:74326600-74331200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:74326800-74330000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:74326800-74330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:74326800-74331600	Strong transcription	Fetal Intestine Small	intestine
26	chr5:74327200-74330000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:74327200-74330000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:74327400-74329800	Weak transcription	Spleen	Spleen
29	chr5:74327400-74332600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr5:74327400-74333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:74327600-74332600	Weak transcription	NHLF	lung
32	chr5:74328000-74329400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr5:74328000-74330200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr5:74328000-74339400	Weak transcription	Fetal Stomach	stomach
35	chr5:74328200-74331600	Enhancers	Placenta	Placenta
36	chr5:74328400-74329800	Weak transcription	Esophagus	oesophagus
37	chr5:74328400-74330000	Weak transcription	Gastric	stomach
38	chr5:74328600-74333000	Weak transcription	Pancreas	Pancrea
39	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:74328800-74333200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:74329000-74329200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:74329000-74329200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:74329000-74330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:74329000-74331400	Enhancers	Primary T cells from cord blood	blood
45	chr5:74329000-74332600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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