Variant report

Variant	rs17073799
Chromosome Location	chr13:30278687-30278688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30277466..30279182-chr13:30280230..30281959,2	MCF-7	breast:
2	chr13:30276744..30278789-chr13:30280944..30283697,2	K562	blood:
3	chr13:30164682..30166932-chr13:30278422..30280468,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12871145	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12876062	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17073796	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17502383	0.83[AMR][1000 genomes]
rs1831095	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs280950	1.00[CHD][hapmap]
rs34102821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34177704	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34622544	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34953541	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35331003	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35933222	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044395	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66982000	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67704126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73157103	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73157108	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7324224	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7996713	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9579456	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9579458	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9579460	0.91[AMR][1000 genomes];0.86[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30276200-30279000	Enhancers	NHEK	skin
2	chr13:30276600-30279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:30276800-30279600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30277000-30279200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30277000-30279600	Enhancers	Spleen	Spleen
6	chr13:30277200-30278800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:30277200-30278800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30277200-30279200	Enhancers	Fetal Muscle Trunk	muscle
9	chr13:30277400-30278800	Weak transcription	Right Ventricle	heart
10	chr13:30277400-30280600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:30277600-30278800	Weak transcription	Left Ventricle	heart
12	chr13:30277600-30278800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr13:30277600-30279000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:30277600-30279400	Enhancers	Adipose Nuclei	Adipose
15	chr13:30277600-30280200	Enhancers	NHDF-Ad	bronchial
16	chr13:30277800-30278800	Weak transcription	Osteobl	bone
17	chr13:30277800-30279000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:30277800-30279000	Weak transcription	NHLF	lung
19	chr13:30277800-30280200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:30278200-30279000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:30278200-30279200	Enhancers	HSMMtube	muscle
22	chr13:30278200-30279600	Enhancers	Right Atrium	heart
23	chr13:30278200-30280000	Weak transcription	Esophagus	oesophagus
24	chr13:30278400-30278800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:30278600-30279800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:30278600-30279800	Enhancers	Skeletal Muscle Male	skeletal muscle

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