Variant report

Variant	rs28547013
Chromosome Location	chr15:50343418-50343419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:50343340-50343490	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50293833..50297239-chr15:50342287..50344568,3	MCF-7	breast:
2	chr15:50342963..50345133-chr15:50348674..50350890,2	MCF-7	breast:
3	chr15:50166426..50168186-chr15:50342851..50345400,2	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10162988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28378462	1.00[AMR][1000 genomes]
rs28430678	1.00[AMR][1000 genomes]
rs28435529	1.00[AMR][1000 genomes]
rs28452447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488704	1.00[AMR][1000 genomes]
rs28503500	1.00[AMR][1000 genomes]
rs28624511	1.00[AMR][1000 genomes]
rs28649721	1.00[AMR][1000 genomes]
rs28665904	1.00[AMR][1000 genomes]
rs28694140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694493	1.00[AMR][1000 genomes]
rs28695746	1.00[AMR][1000 genomes]
rs28720873	1.00[AMR][1000 genomes]
rs28889088	1.00[AMR][1000 genomes]
rs56654392	1.00[AMR][1000 genomes]
rs57191911	1.00[AMR][1000 genomes]
rs57210505	1.00[AMR][1000 genomes]
rs59021616	1.00[AMR][1000 genomes]
rs60436593	1.00[AMR][1000 genomes]
rs60959211	1.00[AMR][1000 genomes]
rs61626064	1.00[AMR][1000 genomes]
rs7163385	1.00[AMR][1000 genomes]
rs73400825	1.00[AMR][1000 genomes]
rs73400834	1.00[AMR][1000 genomes]
rs73400842	1.00[AMR][1000 genomes]
rs73400860	1.00[AMR][1000 genomes]
rs73400867	1.00[AMR][1000 genomes]
rs73400871	1.00[AMR][1000 genomes]
rs73400878	1.00[AMR][1000 genomes]
rs73400879	1.00[AMR][1000 genomes]
rs73400880	1.00[AMR][1000 genomes]
rs9920507	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50321200-50343600	Weak transcription	Hela-S3	cervix
2	chr15:50337400-50347400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:50337800-50344200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:50338800-50343800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:50339400-50347200	Weak transcription	Aorta	Aorta
6	chr15:50340600-50343600	Strong transcription	Primary hematopoietic stem cells	blood
7	chr15:50341200-50347000	Weak transcription	Right Atrium	heart
8	chr15:50341400-50346200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:50341600-50347000	Enhancers	NHDF-Ad	bronchial
10	chr15:50341600-50347200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:50342400-50347400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:50342600-50343600	Weak transcription	NHLF	lung
13	chr15:50343000-50351200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr15:50343200-50344400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:50343200-50347000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:50343200-50347000	Enhancers	Osteobl	bone
17	chr15:50343400-50343800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:50343400-50343800	Enhancers	A549	lung
19	chr15:50343400-50346000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:50343400-50352000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr15:50343400-50352400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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