Variant report

Variant	rs6075947
Chromosome Location	chr20:22743529-22743530
allele	A/G
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: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1761	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2092660	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2143902	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2179856	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2179859	0.93[EUR][1000 genomes]
rs2404493	0.93[EUR][1000 genomes]
rs2424460	0.83[ASN][1000 genomes]
rs2424461	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424464	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424465	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2424466	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424468	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424469	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424470	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424473	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424475	0.95[EUR][1000 genomes]
rs2424476	0.95[EUR][1000 genomes]
rs4331580	0.93[EUR][1000 genomes]
rs4516506	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4815144	0.93[EUR][1000 genomes]
rs6075948	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6082814	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6113803	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6113810	0.94[EUR][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:38 , 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	chr20:22739600-22743600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:22740000-22744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:22740800-22746000	Enhancers	Placenta	Placenta
6	chr20:22741400-22743600	Enhancers	HSMMtube	muscle
7	chr20:22741600-22745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:22742200-22745800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr20:22742400-22743600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:22742400-22746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:22742400-22746000	Enhancers	Lung	lung
12	chr20:22742600-22744000	Enhancers	HSMM	muscle
13	chr20:22742800-22744800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:22742800-22745800	Enhancers	Stomach Mucosa	stomach
15	chr20:22743000-22743600	Enhancers	A549	lung
16	chr20:22743000-22743800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:22743000-22744600	Flanking Active TSS	NHEK	skin
18	chr20:22743000-22744800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:22743000-22745200	Weak transcription	Spleen	Spleen
20	chr20:22743200-22743600	Enhancers	Gastric	stomach
21	chr20:22743200-22743800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:22743200-22743800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr20:22743200-22744000	Enhancers	Left Ventricle	heart
24	chr20:22743200-22744400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:22743200-22745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:22743200-22745400	Enhancers	Fetal Heart	heart
27	chr20:22743200-22745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr20:22743200-22745800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:22743200-22746600	Enhancers	Fetal Muscle Leg	muscle
30	chr20:22743200-22751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr20:22743400-22744000	Enhancers	Aorta	Aorta
32	chr20:22743400-22744400	Enhancers	Psoas Muscle	Psoas
33	chr20:22743400-22744600	Enhancers	Adipose Nuclei	Adipose
34	chr20:22743400-22744600	Flanking Active TSS	Hela-S3	cervix
35	chr20:22743400-22744600	Flanking Active TSS	HMEC	breast
36	chr20:22743400-22745600	Enhancers	Right Atrium	heart
37	chr20:22743400-22745800	Enhancers	Esophagus	oesophagus
38	chr20:22743400-22745800	Enhancers	Fetal Muscle Trunk	muscle

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