Variant report

Variant	rs73134247
Chromosome Location	chr20:52309103-52309104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:50831023..50833009-chr20:52308051..52309841,2	MCF-7	breast:
2	chr17:57912841..57917165-chr20:52306237..52309842,4	MCF-7	breast:
3	chr20:52307525..52309246-chr20:53054454..53056868,2	MCF-7	breast:
4	chr17:57919004..57920668-chr20:52306707..52309485,2	MCF-7	breast:
5	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:
6	chr20:52307812..52309721-chr3:63849166..63851714,2	MCF-7	breast:
7	chr20:52308200..52309884-chr20:55825666..55827903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131408	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000131398	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000163634	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16998327	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58014966	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60003803	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6022667	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6022669	0.97[AFR][1000 genomes]
rs6022675	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6022677	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6022679	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66951711	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7264081	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73283718	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7348874	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7348908	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
5	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
6	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	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
9	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv517748	chr20:52304108-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52303000-52309200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:52303000-52309200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr20:52303000-52309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:52303000-52309400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr20:52303400-52309200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
7	chr20:52305800-52309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:52305800-52309200	Weak transcription	Fetal Thymus	thymus
9	chr20:52305800-52309200	Weak transcription	Dnd41	blood
10	chr20:52307600-52309400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr20:52307600-52309400	Enhancers	HepG2	liver
12	chr20:52307600-52309600	Enhancers	Placenta	Placenta
13	chr20:52307800-52309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52307800-52310000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:52308000-52309200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr20:52308000-52309200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr20:52308000-52309400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:52308000-52309400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr20:52308000-52309600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr20:52308000-52309600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:52308000-52309800	Enhancers	Osteobl	bone
22	chr20:52308200-52309200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr20:52308200-52309600	Enhancers	GM12878-XiMat	blood
24	chr20:52308200-52310000	Enhancers	NH-A	brain
25	chr20:52308200-52310200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr20:52308200-52310400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr20:52308400-52309200	Weak transcription	HUVEC	blood vessel
28	chr20:52308400-52309600	Enhancers	Esophagus	oesophagus
29	chr20:52308400-52309800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr20:52308400-52310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:52308800-52310000	Enhancers	NHDF-Ad	bronchial
32	chr20:52309000-52309400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr20:52309000-52309400	Enhancers	Primary hematopoietic stem cells	blood
34	chr20:52309000-52309400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr20:52309000-52309600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:52309000-52309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:52309000-52309800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr20:52309000-52310000	Enhancers	NHLF	lung
39	chr20:52309000-52310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr20:52309000-52310400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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