Variant report

Variant	rs4813103
Chromosome Location	chr20:12991786-12991787
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: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs181716	0.83[EUR][1000 genomes]
rs3848760	0.82[ASN][1000 genomes]
rs3848761	0.82[ASN][1000 genomes]
rs3887985	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3889156	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3893392	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3906635	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs418264	0.83[EUR][1000 genomes]
rs4814179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6041762	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6078879	1.00[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12988000-12997600	Weak transcription	Hela-S3	cervix
2	chr20:12989400-12992000	Active TSS	Fetal Intestine Small	intestine
3	chr20:12989400-12992600	Active TSS	Fetal Intestine Large	intestine
4	chr20:12989600-12991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:12990400-12994600	Weak transcription	Right Ventricle	heart
6	chr20:12990600-12993200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr20:12990600-12993400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:12990600-12993400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr20:12990600-12993400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr20:12990600-12993400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:12990800-12992400	Enhancers	Gastric	stomach
12	chr20:12990800-12992600	Transcr. at gene 5' and 3'	Placenta	Placenta
13	chr20:12990800-12993200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr20:12990800-12993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr20:12991000-12991800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:12991000-12992200	Enhancers	Small Intestine	intestine
17	chr20:12991000-12992200	Enhancers	Stomach Mucosa	stomach
18	chr20:12991000-12992400	Enhancers	Left Ventricle	heart
19	chr20:12991000-12992400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr20:12991000-12992400	Enhancers	Right Atrium	heart
21	chr20:12991000-12993200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:12991000-12993200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr20:12991000-12993200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:12991000-12993400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:12991200-12991800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr20:12991200-12991800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:12991200-12991800	Enhancers	Colon Smooth Muscle	Colon
28	chr20:12991200-12992000	Enhancers	Aorta	Aorta
29	chr20:12991200-12992400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr20:12991200-12992400	Enhancers	Thymus	Thymus
31	chr20:12991200-12993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:12991200-12993600	Weak transcription	Lung	lung
33	chr20:12991200-12994400	Weak transcription	HSMMtube	muscle
34	chr20:12991200-12995000	Weak transcription	Fetal Muscle Leg	muscle
35	chr20:12991200-12995600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:12991200-13001400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr20:12991200-13002800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr20:12991200-13003200	Weak transcription	Ovary	ovary
39	chr20:12991200-13003600	Weak transcription	Pancreas	Pancrea
40	chr20:12991400-12991800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:12991400-12991800	Weak transcription	Spleen	Spleen
42	chr20:12991400-12991800	Enhancers	HMEC	breast
43	chr20:12991400-12992000	Enhancers	Fetal Lung	lung
44	chr20:12991400-12992000	Enhancers	Stomach Smooth Muscle	stomach
45	chr20:12991400-12992000	Transcr. at gene 5' and 3'	HepG2	liver
46	chr20:12991400-12992200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr20:12991400-12992200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:12991400-12992200	Weak transcription	Esophagus	oesophagus
49	chr20:12991400-12992200	Enhancers	NHEK	skin
50	chr20:12991400-12992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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