Variant report

Variant	rs73091888
Chromosome Location	chr5:57136651-57136652
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	chr5:57098434..57101230-chr5:57136169..57138546,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12657521	0.87[AFR][1000 genomes]
rs12657522	0.92[AFR][1000 genomes]
rs73085598	1.00[AMR][1000 genomes]
rs73089830	1.00[AMR][1000 genomes]
rs73089839	1.00[AMR][1000 genomes]
rs73089871	1.00[AMR][1000 genomes]
rs73091875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093723	0.91[AFR][1000 genomes];1.00[AMR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57127400-57137400	Enhancers	NHEK	skin
2	chr5:57129200-57136800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:57130200-57139200	Enhancers	HMEC	breast
4	chr5:57130600-57137800	Enhancers	HSMM	muscle
5	chr5:57131200-57137800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:57131400-57136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:57131400-57137400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:57131400-57140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
10	chr5:57131600-57137200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:57131600-57137400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:57131800-57136800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:57132000-57136800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:57132000-57137800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:57132400-57137200	Weak transcription	Fetal Brain Male	brain
16	chr5:57132600-57137400	Enhancers	HUVEC	blood vessel
17	chr5:57132600-57137600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:57132800-57137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:57132800-57139000	Enhancers	NHDF-Ad	bronchial
20	chr5:57133000-57137800	Enhancers	HSMMtube	muscle
21	chr5:57133200-57137400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:57133800-57137600	Weak transcription	Fetal Heart	heart
23	chr5:57134200-57136800	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:57134200-57136800	Weak transcription	Placenta	Placenta
25	chr5:57134400-57136800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:57134400-57136800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:57134400-57137000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:57134400-57137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:57135000-57136800	Weak transcription	Osteobl	bone
30	chr5:57135000-57137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:57135000-57137800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:57135600-57136800	Weak transcription	NH-A	brain
33	chr5:57135600-57137200	Enhancers	A549	lung
34	chr5:57135600-57137800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:57135800-57136800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:57135800-57136800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:57135800-57136800	Weak transcription	Hela-S3	cervix
38	chr5:57135800-57137000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:57135800-57137000	Weak transcription	NHLF	lung
40	chr5:57135800-57137200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:57135800-57137400	Weak transcription	Fetal Stomach	stomach
42	chr5:57136400-57138800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:57136600-57137000	Weak transcription	Brain Germinal Matrix	brain

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