Variant report

Variant	rs4705452
Chromosome Location	chr5:146345710-146345711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145945006..145946414-chr5:146345321..146346218,7	MCF-7	breast:
2	chr5:145921765..145922437-chr5:146345649..146346275,3	MCF-7	breast:
3	chr5:145912515..145913125-chr5:146345252..146346326,5	K562	blood:
4	chr5:145915960..145916943-chr5:146345407..146345922,2	K562	blood:
5	chr5:145913021..145913966-chr5:146345375..146346116,2	MCF-7	breast:
6	chr5:145921733..145922459-chr5:146345492..146346272,2	K562	blood:
7	chr5:146001670..146002234-chr5:146345320..146346041,2	MCF-7	breast:
8	chr5:146041750..146042359-chr5:146345292..146346236,3	MCF-7	breast:
9	chr5:146041433..146042095-chr5:146345125..146346054,3	K562	blood:
10	chr5:145921892..145922451-chr5:146345360..146346023,3	MCF-7	breast:

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11167949	0.97[YRI][hapmap];0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11167951	0.90[JPT][hapmap];0.87[YRI][hapmap]
rs11953078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480158	0.84[JPT][hapmap]
rs2086375	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2127569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2400235	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4489112	0.84[JPT][hapmap]
rs4552686	0.84[JPT][hapmap]
rs4705124	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705453	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898335	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146342800-146347200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:146344200-146347800	Enhancers	Brain Hippocampus Middle	brain
3	chr5:146344800-146346200	Enhancers	Brain Anterior Caudate	brain
4	chr5:146345000-146346000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:146345000-146347800	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:146345000-146348000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr5:146345000-146348000	Enhancers	Brain Substantia Nigra	brain
8	chr5:146345200-146346000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:146345200-146346200	Enhancers	Fetal Brain Male	brain
10	chr5:146345200-146347800	Enhancers	Brain Angular Gyrus	brain
11	chr5:146345400-146345800	Enhancers	Brain Germinal Matrix	brain
12	chr5:146345400-146345800	Enhancers	Colon Smooth Muscle	Colon
13	chr5:146345400-146346000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:146345400-146346000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:146345400-146346000	Enhancers	Fetal Brain Female	brain
16	chr5:146345400-146346000	Enhancers	Left Ventricle	heart
17	chr5:146345400-146346200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:146345400-146346200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:146345400-146346200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:146345400-146346200	Enhancers	Ovary	ovary
21	chr5:146345400-146346200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:146345400-146346200	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:146345400-146347600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:146345600-146345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:146345600-146346000	Enhancers	Fetal Kidney	kidney

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