Variant report

Variant	rs2899455
Chromosome Location	chr15:50411613-50411614
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	POLR2A	chr15:50411176-50411948	HL-60	blood:	n/a	n/a
2	POLR2A	chr15:50411230-50411791	NB4	blood:	n/a	n/a
3	MYC	chr15:50411370-50411668	K562	blood:	n/a	n/a
4	RCOR1	chr15:50411359-50411714	K562	blood:	n/a	n/a
5	CTCF	chr15:50411520-50411670	NHLF	lung:	n/a	chr15:50411531-50411544
6	MXI1	chr15:50411550-50411658	Hela-S3	cervix:	n/a	n/a
7	MAFK	chr15:50411462-50411751	K562	blood:	n/a	chr15:50411649-50411660
8	SPI1	chr15:50411420-50411864	HL-60	blood:	n/a	chr15:50411771-50411778 chr15:50411580-50411587
9	JUND	chr15:50411437-50411637	K562	blood:	n/a	n/a
10	TEAD4	chr15:50411236-50411903	K562	blood:	n/a	n/a
11	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf33-1	chr15:50411529-50411654	NONHSAT042399

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12898273	0.95[AFR][1000 genomes]
rs2414017	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2414024	0.95[AFR][1000 genomes]
rs2414026	0.95[AFR][1000 genomes]
rs4375607	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4525435	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs4570773	0.85[AFR][1000 genomes]
rs4774555	0.95[AFR][1000 genomes]
rs4775853	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4775856	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4775857	1.00[YRI][hapmap]
rs4775859	1.00[YRI][hapmap]
rs6493404	0.95[AFR][1000 genomes]
rs6493405	0.95[AFR][1000 genomes]
rs6493406	0.95[AFR][1000 genomes]
rs7168389	0.85[AFR][1000 genomes]
rs7170837	0.95[AFR][1000 genomes]
rs8029368	0.95[AFR][1000 genomes]
rs8036504	0.81[AFR][1000 genomes]
rs8036936	0.95[AFR][1000 genomes]
rs8038060	0.95[AFR][1000 genomes]
rs9302152	0.95[AFR][1000 genomes]
rs9302153	0.95[AFR][1000 genomes]
rs933853	1.00[YRI][hapmap]
rs9920425	0.95[AFR][1000 genomes]
rs9920525	0.95[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50410600-50411800	Enhancers	A549	lung
2	chr15:50410800-50412200	Enhancers	K562	blood
3	chr15:50411000-50411800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:50411000-50412000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:50411200-50411800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr15:50411200-50411800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:50411200-50411800	Enhancers	Fetal Thymus	thymus
8	chr15:50411200-50412000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:50411200-50412000	Enhancers	Thymus	Thymus
10	chr15:50411200-50412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:50411200-50412400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr15:50411200-50412400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr15:50411200-50412600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:50411400-50411800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:50411400-50411800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:50411400-50411800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:50411400-50411800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr15:50411400-50411800	Enhancers	NHDF-Ad	bronchial
19	chr15:50411400-50412000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr15:50411400-50412000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr15:50411400-50412000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:50411400-50412000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:50411400-50412000	Enhancers	Osteobl	bone
24	chr15:50411400-50412200	Weak transcription	Primary B cells from cord blood	blood
25	chr15:50411400-50412200	Enhancers	Primary T cells from cord blood	blood
26	chr15:50411400-50412200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:50411400-50413800	Enhancers	Hela-S3	cervix
28	chr15:50411600-50411800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:50411600-50411800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:50411600-50412000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:50411600-50412200	Active TSS	Primary hematopoietic stem cells	blood
32	chr15:50411600-50412600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr15:50411600-50412800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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