Variant report

Variant	rs28699157
Chromosome Location	chr15:50411228-50411229
allele	A/G
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	POLR2A	chr15:50411176-50411948	HL-60	blood:	n/a	n/a
2	POLR2A	chr15:50411090-50411787	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50410321..50412713-chr15:50646391..50648447,2	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28376517	1.00[AFR][1000 genomes]
rs28529754	1.00[AFR][1000 genomes]
rs28598590	1.00[AFR][1000 genomes]
rs28630999	1.00[AFR][1000 genomes]
rs28699209	1.00[AFR][1000 genomes]
rs28719855	0.92[AFR][1000 genomes]
rs28721890	1.00[AFR][1000 genomes]
rs28883893	0.83[AFR][1000 genomes]
rs8038523	0.96[AFR][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	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	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50408800-50411400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:50409000-50411400	Weak transcription	Osteobl	bone
3	chr15:50409000-50411600	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr15:50409000-50411600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:50410200-50411600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:50410600-50411400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:50410600-50411600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr15:50410600-50411800	Enhancers	A549	lung
9	chr15:50410800-50411400	Active TSS	Primary B cells from cord blood	blood
10	chr15:50410800-50412200	Enhancers	K562	blood
11	chr15:50411000-50411800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:50411000-50412000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr15:50411200-50411600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:50411200-50411600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:50411200-50411600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:50411200-50411800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:50411200-50411800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr15:50411200-50411800	Enhancers	Fetal Thymus	thymus
19	chr15:50411200-50412000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr15:50411200-50412000	Enhancers	Thymus	Thymus
21	chr15:50411200-50412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:50411200-50412400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr15:50411200-50412400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr15:50411200-50412600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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