Variant report

Variant	rs56195302
Chromosome Location	chr5:106893846-106893847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106892732..106894780-chr5:106905929..106907820,4	MCF-7	breast:
2	chr5:106893133..106894878-chr5:107007816..107009967,2	MCF-7	breast:
3	chr5:106878075..106880996-chr5:106890627..106894007,3	MCF-7	breast:
4	chr5:106891290..106894903-chr5:107005448..107008680,4	MCF-7	breast:
5	chr5:106892845..106895575-chr5:106898409..106900796,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184349	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11950725	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957374	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163888	1.00[ASN][1000 genomes]
rs17160159	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17414033	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966892	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1966893	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55837064	0.95[ASN][1000 genomes]
rs6882355	0.95[ASN][1000 genomes]
rs6883713	0.95[ASN][1000 genomes]
rs6884705	0.95[ASN][1000 genomes]
rs712560	0.95[ASN][1000 genomes]
rs72789671	0.95[ASN][1000 genomes]
rs72791831	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72791834	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7443170	0.82[EUR][1000 genomes];0.81[ASN][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	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106879000-106899200	Weak transcription	Fetal Stomach	stomach
2	chr5:106881600-106899600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:106884600-106896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:106885600-106894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:106885600-106896400	Weak transcription	Right Atrium	heart
6	chr5:106887200-106899400	Weak transcription	Fetal Lung	lung
7	chr5:106887200-106906800	Weak transcription	Right Ventricle	heart
8	chr5:106889400-106903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:106890000-106895000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:106890000-106895000	Enhancers	NHEK	skin
11	chr5:106890000-106898000	Enhancers	Fetal Heart	heart
12	chr5:106890200-106900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:106890400-106894000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:106890400-106894800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:106890400-106895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:106891000-106899800	Weak transcription	Aorta	Aorta
17	chr5:106891400-106895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:106891400-106895000	Enhancers	HMEC	breast
19	chr5:106892000-106901800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:106892200-106895600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:106892600-106894000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:106892600-106894400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:106892600-106895000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:106892600-106895400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:106892600-106895400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:106892800-106894800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:106892800-106895600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:106892800-106895600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:106892800-106895800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:106892800-106895800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:106892800-106899800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:106893000-106895200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:106893000-106896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:106893200-106894000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:106893200-106894600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:106893200-106894800	Weak transcription	Placenta	Placenta
37	chr5:106893200-106894800	Weak transcription	Left Ventricle	heart
38	chr5:106893200-106901800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:106893400-106894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:106893400-106895400	Weak transcription	NHLF	lung
41	chr5:106893400-106901600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:106893600-106898200	Enhancers	A549	lung
43	chr5:106893800-106894200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:106893800-106894800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:106893800-106906000	Weak transcription	NHDF-Ad	bronchial

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