Variant report

Variant	rs72737004
Chromosome Location	chr15:50410477-50410478
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	CTCF	chr15:50410442-50410499	GM10248	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
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11070756	0.92[ASN][1000 genomes]
rs11070757	0.92[ASN][1000 genomes]
rs11858160	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12440837	0.88[ASN][1000 genomes]
rs12443409	0.81[EUR][1000 genomes]
rs12906623	0.88[ASN][1000 genomes]
rs12912519	0.88[ASN][1000 genomes]
rs17499726	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55853214	0.80[ASN][1000 genomes]
rs55970302	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56307748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57335604	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58277329	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60383354	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60387657	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737020	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737025	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737026	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737028	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737030	0.92[ASN][1000 genomes]
rs72737033	0.92[ASN][1000 genomes]
rs72737034	0.92[ASN][1000 genomes]
rs72737035	0.92[ASN][1000 genomes]
rs72737040	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8033014	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8036098	0.88[ASN][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50403800-50411200	Weak transcription	Thymus	Thymus
2	chr15:50405600-50410800	Weak transcription	K562	blood
3	chr15:50407800-50411200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr15:50408800-50410600	Active TSS	Primary hematopoietic stem cells	blood
5	chr15:50408800-50410600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr15:50408800-50411400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50409000-50411400	Weak transcription	Osteobl	bone
8	chr15:50409000-50411600	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr15:50409000-50411600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50409200-50410600	Weak transcription	A549	lung
11	chr15:50409600-50410600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr15:50409800-50410800	Weak transcription	Primary B cells from cord blood	blood
13	chr15:50410000-50411000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:50410200-50411600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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