Variant report

Variant	rs4525435
Chromosome Location	chr15:50409062-50409063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:50408720-50409068	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr15:50408660-50409088	HepG2	liver:	n/a	n/a
3	NR2F2	chr15:50408687-50409076	HepG2	liver:	n/a	n/a
4	NR2F2	chr15:50408594-50409122	K562	blood:	n/a	n/a
5	RAD21	chr15:50408752-50409119	HCT-116	colon:	n/a	n/a
6	RXRA	chr15:50408722-50409069	HepG2	liver:	n/a	n/a
7	NR2F2	chr15:50408578-50409154	MCF-7	breast:	n/a	n/a
8	NR2F2	chr15:50408531-50409104	MCF-7	breast:	n/a	n/a
9	RAD21	chr15:50408630-50409088	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr15:50408487-50409231	A549	lung:	n/a	n/a
11	TCF7L2	chr15:50408643-50409075	HCT-116	colon:	n/a	chr15:50408865-50408879 chr15:50408799-50408813
12	RAD21	chr15:50408607-50409070	A549	lung:	n/a	n/a
13	NR2F2	chr15:50408590-50409085	HepG2	liver:	n/a	n/a
14	CTCF	chr15:50408619-50409114	HCT-116	colon:	n/a	n/a
15	NR2F2	chr15:50408655-50409107	K562	blood:	n/a	n/a
16	CBX3	chr15:50408654-50409097	HCT-116	colon:	n/a	n/a
17	CTCF	chr15:50408534-50409081	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:50408597-50409076	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr15:50408651-50409087	A549	lung:	n/a	n/a
20	RAD21	chr15:50408743-50409083	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50408457..50409368-chr15:50430353..50431313,7	MCF-7	breast:
2	chr15:50408827..50409344-chr15:50437706..50438255,2	K562	blood:
3	chr15:50406713..50409473-chr15:50499775..50501470,2	K562	blood:
4	chr15:50408563..50409286-chr15:50420160..50420847,4	MCF-7	breast:

No data

Variant related genes	Relation type
ATP8B4	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12898273	0.89[AFR][1000 genomes]
rs2414017	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2414024	0.89[AFR][1000 genomes]
rs2414026	0.89[AFR][1000 genomes]
rs2899455	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs4375607	0.85[YRI][hapmap];0.90[AFR][1000 genomes]
rs4570773	0.90[AFR][1000 genomes]
rs4774555	0.89[AFR][1000 genomes]
rs4775853	0.85[YRI][hapmap];0.95[AFR][1000 genomes]
rs4775856	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs4775857	0.85[YRI][hapmap]
rs4775859	0.85[YRI][hapmap]
rs6493404	0.89[AFR][1000 genomes]
rs6493405	0.89[AFR][1000 genomes]
rs6493406	0.89[AFR][1000 genomes]
rs7168389	0.90[AFR][1000 genomes]
rs7170837	0.89[AFR][1000 genomes]
rs8029368	0.89[AFR][1000 genomes]
rs8036936	0.89[AFR][1000 genomes]
rs8038060	0.89[AFR][1000 genomes]
rs9302152	0.89[AFR][1000 genomes]
rs9302153	0.89[AFR][1000 genomes]
rs933853	0.85[YRI][hapmap]
rs9920425	0.89[AFR][1000 genomes]
rs9920525	0.89[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:13 , 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	chr15:50406800-50409200	Weak transcription	Primary B cells from cord blood	blood
4	chr15:50406800-50409600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:50407800-50411200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr15:50408200-50409600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:50408800-50410600	Active TSS	Primary hematopoietic stem cells	blood
8	chr15:50408800-50410600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:50408800-50411400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:50409000-50410000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:50409000-50411400	Weak transcription	Osteobl	bone
12	chr15:50409000-50411600	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr15:50409000-50411600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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