Variant report

Variant	rs6079348
Chromosome Location	chr20:14177239-14177240
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	chr20:14175439..14177996-chr3:730394..733241,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1033860	1.00[AMR][1000 genomes]
rs1118572	1.00[AMR][1000 genomes]
rs1980702	1.00[AMR][1000 genomes]
rs204623	1.00[AMR][1000 genomes]
rs204624	1.00[AMR][1000 genomes]
rs2327828	1.00[AMR][1000 genomes]
rs2423771	1.00[AMR][1000 genomes]
rs2423776	1.00[AMR][1000 genomes]
rs3121496	1.00[AMR][1000 genomes]
rs6033874	1.00[AMR][1000 genomes]
rs6033875	1.00[AMR][1000 genomes]
rs6033900	1.00[AMR][1000 genomes]
rs6042465	1.00[AMR][1000 genomes]
rs6042481	1.00[AMR][1000 genomes]
rs6042482	1.00[AMR][1000 genomes]
rs6042504	1.00[AMR][1000 genomes]
rs6042540	1.00[AMR][1000 genomes]
rs6042546	1.00[AMR][1000 genomes]
rs6042580	1.00[AFR][1000 genomes]
rs6042587	1.00[AMR][1000 genomes]
rs6079320	1.00[AMR][1000 genomes]
rs6079343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6079347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs927564	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv532514	chr20:14097780-14288315	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14175000-14179600	Weak transcription	Fetal Intestine Small	intestine
2	chr20:14175400-14179000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:14176000-14177800	Enhancers	HSMMtube	muscle
4	chr20:14176200-14178800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:14176600-14178000	Enhancers	Fetal Stomach	stomach
6	chr20:14176600-14178800	Enhancers	NHLF	lung
7	chr20:14176600-14179400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:14176800-14177800	Enhancers	Fetal Heart	heart
9	chr20:14176800-14177800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr20:14176800-14177800	Enhancers	HSMM	muscle
11	chr20:14176800-14178800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:14176800-14178800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr20:14176800-14179000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:14176800-14184400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:14177000-14177400	Enhancers	Adipose Nuclei	Adipose
16	chr20:14177000-14177400	Enhancers	Stomach Smooth Muscle	stomach
17	chr20:14177000-14177800	Enhancers	Rectal Smooth Muscle	rectum
18	chr20:14177000-14177800	Enhancers	Osteobl	bone
19	chr20:14177000-14178600	Enhancers	NH-A	brain
20	chr20:14177200-14177400	Enhancers	HMEC	breast
21	chr20:14177200-14177600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr20:14177200-14177800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr20:14177200-14177800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:14177200-14177800	Enhancers	Colon Smooth Muscle	Colon
25	chr20:14177200-14177800	Enhancers	NHDF-Ad	bronchial

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