Variant report

Variant	rs73046727
Chromosome Location	chr5:14598311-14598312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14580647..14583511-chr5:14597713..14599305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145569	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10072696	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13355896	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17296475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17296541	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17362465	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17571949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2435064	0.89[EUR][1000 genomes]
rs3845281	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58401870	0.81[EUR][1000 genomes]
rs60087848	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73046720	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73046737	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73046740	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73046743	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73046748	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
2	chr5:14586000-14602600	Weak transcription	Fetal Intestine Large	intestine
3	chr5:14591800-14610000	Weak transcription	Gastric	stomach
4	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
5	chr5:14593200-14598400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr5:14593200-14598600	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:14593200-14600600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:14593200-14618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:14593400-14604800	Weak transcription	Fetal Stomach	stomach
10	chr5:14593600-14615200	Weak transcription	Fetal Brain Female	brain
11	chr5:14594400-14621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:14594800-14602600	Weak transcription	Colonic Mucosa	Colon
13	chr5:14595200-14613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:14595400-14601600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:14595400-14616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:14595600-14598800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:14595600-14601400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:14595600-14602600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:14595800-14598600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:14595800-14598600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:14595800-14598800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:14596000-14598600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:14596000-14598800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr5:14596000-14598800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:14596000-14598800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:14596000-14598800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:14596000-14599400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:14596200-14598800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:14596200-14598800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:14596200-14598800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:14596200-14599000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:14596200-14601400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:14596600-14598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:14596600-14601600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:14597400-14598800	Enhancers	Pancreas	Pancrea
36	chr5:14597400-14600600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:14597600-14599000	Enhancers	GM12878-XiMat	blood
38	chr5:14597600-14610400	Weak transcription	Adipose Nuclei	Adipose
39	chr5:14597800-14598400	Enhancers	Small Intestine	intestine
40	chr5:14597800-14598400	Enhancers	Spleen	Spleen
41	chr5:14597800-14601600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:14598000-14598400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr5:14598000-14598400	Enhancers	Brain Angular Gyrus	brain
44	chr5:14598000-14598400	Enhancers	Lung	lung
45	chr5:14598000-14598600	Enhancers	Fetal Thymus	thymus
46	chr5:14598000-14598800	Enhancers	Brain Hippocampus Middle	brain
47	chr5:14598000-14599000	Enhancers	Fetal Brain Male	brain
48	chr5:14598200-14598400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:14598200-14598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:14598200-14599000	Enhancers	Brain Substantia Nigra	brain

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