Variant report

Variant	rs4705759
Chromosome Location	chr5:112392324-112392325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
2	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12521395	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13185006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes]
rs17311019	1.00[AMR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes]
rs4235775	1.00[EUR][1000 genomes]
rs4235776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235780	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4260661	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4276396	1.00[EUR][1000 genomes]
rs4295378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4519915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627978	1.00[EUR][1000 genomes]
rs4705534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705535	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4705536	1.00[EUR][1000 genomes]
rs4705757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705765	1.00[EUR][1000 genomes]
rs55901036	1.00[AMR][1000 genomes]
rs55940904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55997238	0.95[EUR][1000 genomes]
rs56023848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56265422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876839	0.90[AFR][1000 genomes]
rs6594657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862944	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6872473	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881426	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896675	0.95[EUR][1000 genomes]
rs6897972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706745	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878075	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv516887	chr5:112379659-112396174	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
12	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
14	chr5:112383200-112409400	Strong transcription	Liver	Liver
15	chr5:112383400-112395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:112383600-112394200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:112383800-112393000	Weak transcription	Brain Germinal Matrix	brain
18	chr5:112383800-112394000	Weak transcription	Fetal Thymus	thymus
19	chr5:112384000-112393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:112384200-112392600	Weak transcription	Fetal Kidney	kidney
22	chr5:112384200-112393000	Weak transcription	Fetal Brain Male	brain
23	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
27	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
28	chr5:112386400-112394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:112386600-112393000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:112386800-112394400	Weak transcription	Brain Anterior Caudate	brain
31	chr5:112386800-112395200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:112387200-112394400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:112387200-112395000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:112387400-112394000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:112387600-112394600	Weak transcription	HSMMtube	muscle
36	chr5:112388200-112394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:112388400-112398800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:112388600-112394000	Weak transcription	HUVEC	blood vessel
39	chr5:112388600-112394200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:112388600-112394200	Weak transcription	HMEC	breast
41	chr5:112388600-112394400	Weak transcription	NH-A	brain
42	chr5:112388600-112394600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:112388600-112394600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:112388600-112397000	Weak transcription	NHLF	lung
45	chr5:112388600-112397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:112388800-112402400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:112389000-112392600	Weak transcription	Right Atrium	heart
48	chr5:112389000-112393000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112389200-112392800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:112389400-112394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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