Variant report

Variant	rs13043348
Chromosome Location	chr20:22743775-22743776
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22737582..22739507-chr20:22742394..22744607,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10735149	0.87[EUR][1000 genomes]
rs11697574	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11699126	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11699192	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11906177	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11906209	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11906222	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13042234	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17681000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17681083	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2103766	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2143903	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2143904	0.88[EUR][1000 genomes]
rs2179857	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2179858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2207169	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2404492	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34023416	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35049078	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35465115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4414746	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6075949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6075950	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6075951	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6075953	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6075954	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6075956	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6075962	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6075964	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6075965	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082813	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082819	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082822	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082825	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082827	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082828	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6082829	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082830	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082832	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6082833	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082836	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082837	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082838	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082839	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082840	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6082842	0.86[EUR][1000 genomes]
rs7274509	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7274843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7353078	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73900571	0.80[ASN][1000 genomes]
rs8116991	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8119685	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8122403	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8122474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8123509	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs926744	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528221	chr20:22732749-22767280	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22734800-22745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:22737800-22749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:22740000-22744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:22740800-22746000	Enhancers	Placenta	Placenta
5	chr20:22741600-22745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:22742200-22745800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:22742400-22746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:22742400-22746000	Enhancers	Lung	lung
9	chr20:22742600-22744000	Enhancers	HSMM	muscle
10	chr20:22742800-22744800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:22742800-22745800	Enhancers	Stomach Mucosa	stomach
12	chr20:22743000-22743800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:22743000-22744600	Flanking Active TSS	NHEK	skin
14	chr20:22743000-22744800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:22743000-22745200	Weak transcription	Spleen	Spleen
16	chr20:22743200-22743800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:22743200-22743800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr20:22743200-22744000	Enhancers	Left Ventricle	heart
19	chr20:22743200-22744400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:22743200-22745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:22743200-22745400	Enhancers	Fetal Heart	heart
22	chr20:22743200-22745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr20:22743200-22745800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr20:22743200-22746600	Enhancers	Fetal Muscle Leg	muscle
25	chr20:22743200-22751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:22743400-22744000	Enhancers	Aorta	Aorta
27	chr20:22743400-22744400	Enhancers	Psoas Muscle	Psoas
28	chr20:22743400-22744600	Enhancers	Adipose Nuclei	Adipose
29	chr20:22743400-22744600	Flanking Active TSS	Hela-S3	cervix
30	chr20:22743400-22744600	Flanking Active TSS	HMEC	breast
31	chr20:22743400-22745600	Enhancers	Right Atrium	heart
32	chr20:22743400-22745800	Enhancers	Esophagus	oesophagus
33	chr20:22743400-22745800	Enhancers	Fetal Muscle Trunk	muscle
34	chr20:22743600-22743800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:22743600-22743800	Weak transcription	Gastric	stomach
36	chr20:22743600-22744200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr20:22743600-22744400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:22743600-22744400	Flanking Active TSS	A549	lung
39	chr20:22743600-22744600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:22743600-22744600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr20:22743600-22744600	Enhancers	Right Ventricle	heart
42	chr20:22743600-22744600	Flanking Active TSS	HSMMtube	muscle
43	chr20:22743600-22744600	Enhancers	HUVEC	blood vessel
44	chr20:22743600-22744600	Enhancers	NH-A	brain

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