Variant report

Variant	rs58407953
Chromosome Location	chr6:45635312-45635313
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	chr6:45617993..45619581-chr6:45633411..45635573,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56054143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57853251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58844599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60294597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60588484	1.00[AMR][1000 genomes]
rs60643594	1.00[AMR][1000 genomes]
rs73444595	1.00[AMR][1000 genomes]
rs73735411	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735414	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735426	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735428	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45631000-45635600	Enhancers	NH-A	brain
2	chr6:45631800-45635400	Weak transcription	Esophagus	oesophagus
3	chr6:45631800-45645000	Weak transcription	Colonic Mucosa	Colon
4	chr6:45632000-45643400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:45632200-45636600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:45632600-45635600	Strong transcription	HSMM	muscle
7	chr6:45632600-45643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:45633200-45635400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:45633200-45635400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:45633200-45635800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:45633400-45635400	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:45633400-45635600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:45634200-45635400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:45634200-45635600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:45634200-45635800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:45634200-45642200	Weak transcription	Fetal Thymus	thymus
17	chr6:45634200-45645200	Weak transcription	Right Atrium	heart
18	chr6:45634400-45635400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:45634400-45635600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:45634400-45635800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:45634600-45635400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:45634800-45635600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:45635000-45635400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:45635000-45635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:45635000-45635400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:45635000-45635400	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:45635000-45635800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:45635000-45635800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:45635000-45635800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:45635000-45635800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr6:45635000-45644800	Weak transcription	NHLF	lung
32	chr6:45635200-45635400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:45635200-45635400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:45635200-45635400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:45635200-45635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:45635200-45635400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:45635200-45635400	Enhancers	Fetal Brain Female	brain
38	chr6:45635200-45635600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:45635200-45635800	Enhancers	Right Ventricle	heart
40	chr6:45635200-45636000	Enhancers	Fetal Lung	lung
41	chr6:45635200-45636600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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