Variant report

Variant	rs3859618
Chromosome Location	chr20:12993518-12993519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:12991571..12994520-chr20:12996510..12998198,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2327445	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2327447	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2327448	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2876238	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3761893	0.97[ASN][1000 genomes]
rs3761895	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3843768	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3843769	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848762	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3848764	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848765	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3848766	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3966739	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813105	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4814181	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074546	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6078878	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6078880	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6078882	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6078883	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6078884	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6078885	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6131420	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6131421	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv912684	chr20:12734299-13311983	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1067036	chr20:12737436-13338337	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3488304	chr20:12738054-13341279	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	esv3488305	chr20:12738054-13341279	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv518184	chr20:12743808-13344672	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1063587	chr20:12756524-13330103	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv544185	chr20:12756524-13330103	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv916296	chr20:12756605-13329940	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1067720	chr20:12756725-13329963	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv532513	chr20:12756725-13329963	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1064901	chr20:12773504-13318421	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv833923	chr20:12904689-13064426	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12988000-12997600	Weak transcription	Hela-S3	cervix
2	chr20:12990400-12994600	Weak transcription	Right Ventricle	heart
3	chr20:12991200-12993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:12991200-12993600	Weak transcription	Lung	lung
5	chr20:12991200-12994400	Weak transcription	HSMMtube	muscle
6	chr20:12991200-12995000	Weak transcription	Fetal Muscle Leg	muscle
7	chr20:12991200-12995600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:12991200-13001400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr20:12991200-13002800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr20:12991200-13003200	Weak transcription	Ovary	ovary
11	chr20:12991200-13003600	Weak transcription	Pancreas	Pancrea
12	chr20:12991400-12993600	Weak transcription	Primary T cells from cord blood	blood
13	chr20:12991400-12994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:12991400-12995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:12991400-12997200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr20:12991400-12997800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:12991400-13002400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr20:12991600-12996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:12991800-12994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr20:12991800-12994600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr20:12991800-12995800	Weak transcription	HMEC	breast
22	chr20:12991800-13001600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:12992000-12995000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:12992000-12996000	Weak transcription	Spleen	Spleen
25	chr20:12992000-13002200	Weak transcription	Aorta	Aorta
26	chr20:12992200-12994200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr20:12992200-13000400	Weak transcription	Stomach Mucosa	stomach
28	chr20:12992200-13000800	Weak transcription	NHEK	skin
29	chr20:12992400-12993600	Weak transcription	Thymus	Thymus
30	chr20:12992400-12993800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr20:12992400-12994400	Weak transcription	Esophagus	oesophagus
32	chr20:12992400-12997600	Weak transcription	Right Atrium	heart
33	chr20:12992400-13001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:12992600-12994000	Active TSS	Placenta	Placenta
35	chr20:12992600-12995800	Genic enhancers	HepG2	liver
36	chr20:12992800-12994400	Enhancers	Fetal Intestine Small	intestine
37	chr20:12993000-12994600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr20:12993000-12995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:12993200-12993800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:12993200-12993800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:12993200-12993800	Enhancers	Small Intestine	intestine
42	chr20:12993200-12994000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr20:12993200-12994000	Enhancers	Fetal Intestine Large	intestine
44	chr20:12993200-12994200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:12993200-12994200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr20:12993200-12994600	Enhancers	Fetal Kidney	kidney
47	chr20:12993200-12995200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:12993400-12993600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:12993400-12993600	Enhancers	Colon Smooth Muscle	Colon
50	chr20:12993400-12993800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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