Variant report

Variant	rs2276514
Chromosome Location	chr20:52575878-52575879
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52573893..52576566-chr20:52684322..52688419,3	MCF-7	breast:
2	chr20:52557853..52560053-chr20:52573644..52576413,2	K562	blood:
3	chr20:52575166..52577110-chr20:52817182..52819499,2	MCF-7	breast:
4	chr17:56706951..56709239-chr20:52571954..52576924,4	MCF-7	breast:
5	chr17:56735101..56737749-chr20:52575346..52577054,2	MCF-7	breast:
6	chr17:56707924..56709444-chr20:52574671..52576672,2	MCF-7	breast:
7	chr17:59947480..59950450-chr20:52574915..52576530,2	MCF-7	breast:
8	chr20:52574055..52577130-chr20:55839672..55843479,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265595	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000064787	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1016279	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10485440	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125895	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12480106	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1477639	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2024064	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2024065	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2108456	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2276494	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2276496	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2276497	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2276502	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2302039	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35575210	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3815270	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs382133	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs402992	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs431061	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55672258	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55776232	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6013861	0.92[ASN][1000 genomes]
rs6022877	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs714514	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8124068	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
3	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
4	nsv1055549	chr20:52555871-52586281	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52564200-52576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52566400-52644800	Weak transcription	Gastric	stomach
3	chr20:52566600-52576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:52566600-52576600	Weak transcription	Brain Anterior Caudate	brain
5	chr20:52566800-52576400	Weak transcription	Fetal Lung	lung
6	chr20:52567000-52576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:52567000-52578200	Weak transcription	Brain Angular Gyrus	brain
8	chr20:52567000-52580200	Weak transcription	Stomach Mucosa	stomach
9	chr20:52570200-52591800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr20:52570200-52592400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr20:52570600-52576400	Weak transcription	Fetal Kidney	kidney
12	chr20:52570800-52590800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:52572400-52576200	Weak transcription	HepG2	liver
14	chr20:52573400-52576200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:52573400-52576200	Enhancers	NHDF-Ad	bronchial
16	chr20:52573600-52576200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:52574200-52577400	Enhancers	Fetal Stomach	stomach
18	chr20:52574600-52576200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:52574600-52576200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr20:52574600-52576400	Enhancers	Adipose Nuclei	Adipose
21	chr20:52574800-52576000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:52574800-52576400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr20:52574800-52576400	Weak transcription	HSMM	muscle
24	chr20:52574800-52576400	Weak transcription	NHLF	lung
25	chr20:52574800-52578200	Weak transcription	Brain Substantia Nigra	brain
26	chr20:52575000-52576400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr20:52575000-52576400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:52575000-52576400	Weak transcription	Brain Hippocampus Middle	brain
29	chr20:52575000-52576400	Weak transcription	HSMMtube	muscle
30	chr20:52575000-52576400	Weak transcription	NH-A	brain
31	chr20:52575200-52576200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr20:52575200-52576200	Weak transcription	Osteobl	bone
33	chr20:52575200-52576400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr20:52575200-52576600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr20:52575600-52578400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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