Variant report

Variant	rs2288385
Chromosome Location	chr5:106806051-106806052
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106802607..106804706-chr5:106804946..106806862,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11948482	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11949501	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954938	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12518253	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs636137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv462379	chr5:106789764-106806438	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv471037	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv599334	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106799400-106806400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:106799600-106806200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106799600-106806200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:106799600-106806200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:106799600-106806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:106799600-106806400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:106799600-106806800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:106799600-106807000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:106799600-106807200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:106799600-106808200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:106799600-106811200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:106799600-106811800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:106799800-106811000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:106801600-106806400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:106802400-106807000	Enhancers	Hela-S3	cervix
16	chr5:106802400-106810200	Weak transcription	Right Atrium	heart
17	chr5:106802600-106808200	Weak transcription	Gastric	stomach
18	chr5:106802600-106813600	Weak transcription	Right Ventricle	heart
19	chr5:106803200-106806200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:106803600-106808200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:106803600-106808400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:106803600-106812600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:106803800-106807000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:106803800-106811400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:106804000-106806200	Enhancers	Dnd41	blood
26	chr5:106804000-106806200	Enhancers	HSMM	muscle
27	chr5:106804000-106806400	Enhancers	Stomach Mucosa	stomach
28	chr5:106804200-106806400	Flanking Active TSS	A549	lung
29	chr5:106804200-106809800	Weak transcription	Fetal Intestine Small	intestine
30	chr5:106804400-106810200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:106804600-106806200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:106804600-106806200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:106804600-106810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:106804800-106806200	Enhancers	Primary T cells from cord blood	blood
35	chr5:106804800-106806600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:106804800-106810400	Weak transcription	Fetal Lung	lung
37	chr5:106805000-106806200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:106805000-106806200	Enhancers	Osteobl	bone
39	chr5:106805000-106808400	Weak transcription	Left Ventricle	heart
40	chr5:106805000-106809800	Weak transcription	Lung	lung
41	chr5:106805200-106806200	Enhancers	HSMMtube	muscle
42	chr5:106805200-106806200	Flanking Active TSS	NHEK	skin
43	chr5:106805200-106806200	Enhancers	NHLF	lung
44	chr5:106805200-106806400	Enhancers	NHDF-Ad	bronchial
45	chr5:106805400-106806200	Flanking Active TSS	Fetal Heart	heart
46	chr5:106805400-106808400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:106805400-106809600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:106805400-106810200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:106805600-106806200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr5:106805600-106806200	Enhancers	Monocytes-CD14+_RO01746	blood

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