Variant report

Variant	rs73347053
Chromosome Location	chr5:127176492-127176493
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	chr5:127093555..127095381-chr5:127175132..127176761,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58138119	1.00[AMR][1000 genomes]
rs59820375	1.00[AMR][1000 genomes]
rs73331823	1.00[AMR][1000 genomes]
rs73331851	1.00[AMR][1000 genomes]
rs73347003	1.00[AMR][1000 genomes]
rs73347010	1.00[AMR][1000 genomes]
rs73347046	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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127170400-127180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:127173800-127176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:127174200-127177000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:127174400-127177600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:127174800-127179800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:127174800-127180000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:127174800-127180000	Weak transcription	HSMM	muscle
8	chr5:127174800-127180000	Weak transcription	HSMMtube	muscle
9	chr5:127175000-127179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:127175000-127180000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:127175000-127180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:127175000-127180200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:127175400-127177000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:127175800-127176600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:127175800-127176800	Enhancers	A549	lung
16	chr5:127176000-127176600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:127176000-127176800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:127176000-127177200	Weak transcription	Stomach Mucosa	stomach
19	chr5:127176000-127177600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:127176000-127180600	Weak transcription	Duodenum Mucosa	Duodenum

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