Variant report

Variant	rs56096608
Chromosome Location	chr5:112571109-112571110
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	chr5:112570824..112573255-chr5:112670003..112671538,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10067575	1.00[AMR][1000 genomes]
rs1345079	1.00[AMR][1000 genomes]
rs1443688	1.00[AMR][1000 genomes]
rs1443697	1.00[AMR][1000 genomes]
rs1443698	1.00[AMR][1000 genomes]
rs1584057	1.00[AMR][1000 genomes]
rs1867326	1.00[AMR][1000 genomes]
rs1982287	1.00[AMR][1000 genomes]
rs2416308	1.00[AMR][1000 genomes]
rs2900068	1.00[AMR][1000 genomes]
rs2900069	1.00[AMR][1000 genomes]
rs4235795	1.00[AMR][1000 genomes]
rs55668675	1.00[AMR][1000 genomes]
rs55754627	1.00[AFR][1000 genomes]
rs55834943	1.00[AMR][1000 genomes]
rs57279462	1.00[AFR][1000 genomes]
rs57288647	1.00[AMR][1000 genomes]
rs59926560	1.00[AMR][1000 genomes]
rs6594694	1.00[AMR][1000 genomes]
rs6862997	1.00[AMR][1000 genomes]
rs6892018	1.00[AMR][1000 genomes]
rs73236450	1.00[AMR][1000 genomes]
rs73236472	1.00[AMR][1000 genomes]
rs73236475	1.00[AMR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	1.00[AMR][1000 genomes]
rs73239122	1.00[AMR][1000 genomes]
rs73239127	1.00[AMR][1000 genomes]
rs73239158	1.00[AMR][1000 genomes]
rs73244727	1.00[AMR][1000 genomes]
rs73244751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252716	1.00[AMR][1000 genomes]
rs73252719	1.00[AMR][1000 genomes]
rs73778917	1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73781526	1.00[AMR][1000 genomes]
rs935164	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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112559000-112571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112561600-112575000	Weak transcription	Right Ventricle	heart
5	chr5:112565400-112572000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:112566200-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112566400-112571200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:112566400-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:112566400-112574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:112567200-112572400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:112567200-112572400	Enhancers	NHEK	skin
12	chr5:112567400-112571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:112567400-112572800	Enhancers	Stomach Mucosa	stomach
14	chr5:112567400-112573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:112568400-112572400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:112568600-112575000	Weak transcription	Left Ventricle	heart
17	chr5:112568800-112572200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:112568800-112572600	Weak transcription	Psoas Muscle	Psoas
19	chr5:112568800-112573000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:112568800-112575200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:112569000-112575400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:112569000-112577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:112569200-112571200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:112569400-112571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:112569400-112573400	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112569600-112572400	Weak transcription	Fetal Brain Male	brain
27	chr5:112569600-112574000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:112569600-112575400	Weak transcription	Fetal Brain Female	brain
29	chr5:112569800-112572200	Weak transcription	Fetal Lung	lung
30	chr5:112569800-112573200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:112570000-112572200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:112570000-112574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:112570200-112572600	Enhancers	HMEC	breast
34	chr5:112570200-112573600	Weak transcription	Fetal Stomach	stomach
35	chr5:112570200-112574000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:112570200-112576200	Enhancers	Fetal Heart	heart
37	chr5:112570400-112571400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:112570400-112571800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:112570400-112572400	Enhancers	Liver	Liver
40	chr5:112570600-112572800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:112570800-112571600	Weak transcription	Esophagus	oesophagus
42	chr5:112570800-112572000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:112570800-112572600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:112570800-112573200	Weak transcription	Right Atrium	heart
45	chr5:112570800-112573600	Weak transcription	Ovary	ovary
46	chr5:112570800-112580600	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:112571000-112571200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:112571000-112573600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:112571000-112581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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