Variant report

Variant	rs73378505
Chromosome Location	chr15:33351993-33351994
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33350149..33352593-chr15:33359553..33361062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248905	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1349963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1378270	1.00[AMR][1000 genomes]
rs1378271	1.00[AMR][1000 genomes]
rs2339187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61301004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376628	1.00[AMR][1000 genomes]
rs73376679	1.00[AMR][1000 genomes]
rs73376701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378520	1.00[AMR][1000 genomes]
rs73378521	1.00[AMR][1000 genomes]
rs73378530	1.00[AMR][1000 genomes]
rs73378532	1.00[AMR][1000 genomes]
rs73378542	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33324000-33356800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:33332200-33355200	Weak transcription	Gastric	stomach
3	chr15:33337000-33352000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:33337000-33358000	Weak transcription	Colonic Mucosa	Colon
5	chr15:33337600-33356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:33337800-33356800	Weak transcription	HSMMtube	muscle
7	chr15:33338800-33355200	Weak transcription	HSMM	muscle
8	chr15:33344000-33356800	Weak transcription	Esophagus	oesophagus
9	chr15:33344000-33356800	Weak transcription	Lung	lung
10	chr15:33345600-33358200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:33345800-33355200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:33345800-33355200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:33348000-33358200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:33348200-33352600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:33348200-33360000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:33348400-33352200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:33348800-33355200	Weak transcription	Thymus	Thymus
18	chr15:33350200-33355200	Weak transcription	Stomach Mucosa	stomach
19	chr15:33350400-33358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:33350400-33358800	Weak transcription	Pancreas	Pancrea
21	chr15:33350600-33358200	Weak transcription	Placenta	Placenta
22	chr15:33351000-33352400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:33351200-33352000	Enhancers	Osteobl	bone
24	chr15:33351200-33352200	Enhancers	NHLF	lung
25	chr15:33351400-33352200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:33351400-33352400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr15:33351400-33355200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:33351400-33356200	Weak transcription	NHDF-Ad	bronchial
29	chr15:33351400-33356600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:33351800-33356200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:33351800-33356800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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