Variant report

Variant	rs1365507
Chromosome Location	chr15:50477235-50477236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:50477096-50477772	HepG2	liver:	n/a	n/a
2	FOXA1	chr15:50477142-50477735	HepG2	liver:	n/a	n/a
3	MYBL2	chr15:50477045-50477479	HepG2	liver:	n/a	n/a
4	FOXA2	chr15:50477070-50477731	HepG2	liver:	n/a	n/a
5	SP1	chr15:50476958-50477756	HepG2	liver:	n/a	n/a
6	FOXA2	chr15:50477081-50477703	HepG2	liver:	n/a	n/a
7	ARID3A	chr15:50477121-50477623	HepG2	liver:	n/a	n/a
8	HNF4A	chr15:50477086-50477665	HepG2	liver:	n/a	chr15:50477524-50477536 chr15:50477221-50477235
9	RAD21	chr15:50477201-50477325	A549	lung:	n/a	n/a
10	HEY1	chr15:50477039-50477426	HepG2	liver:	n/a	n/a
11	FOXA1	chr15:50477023-50477874	HepG2	liver:	n/a	n/a
12	NFIC	chr15:50477007-50477461	HepG2	liver:	n/a	n/a
13	FOXA1	chr15:50477102-50477740	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:50475267..50477449-chr15:50487507..50490048,2	K562	blood:
2	chr15:50471286..50473926-chr15:50475708..50479311,4	K562	blood:
3	chr15:50475880..50478806-chr15:50494358..50497931,3	MCF-7	breast:
4	chr15:50471854..50475641-chr15:50475703..50478122,4	MCF-7	breast:

No data

Variant related genes	Relation type
ATP8B4	TF binding region
ENSG00000104043	Chromatin interaction
ENSG00000140284	Chromatin interaction

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

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

rs_ID	r²[population]
rs17848320	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61367002	1.00[ASN][1000 genomes]
rs7168544	1.00[CHD][hapmap]
rs74014929	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74014933	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74014938	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024046	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs8040133	0.83[EUR][1000 genomes]
rs8040222	0.94[AMR][1000 genomes];1.00[EUR][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	nsv904209	chr15:50444824-50482133	Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50474200-50477400	Active TSS	Liver	Liver
2	chr15:50475800-50477600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr15:50476000-50477400	Weak transcription	Adipose Nuclei	Adipose
4	chr15:50476000-50477800	Enhancers	Duodenum Mucosa	Duodenum
5	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
6	chr15:50476200-50477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50476200-50478200	Enhancers	Fetal Intestine Small	intestine
8	chr15:50476200-50479000	Weak transcription	K562	blood
9	chr15:50476200-50481400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:50476400-50477600	Flanking Active TSS	Hela-S3	cervix
11	chr15:50476400-50478000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr15:50476600-50498000	Weak transcription	Pancreas	Pancrea
13	chr15:50476800-50477600	Enhancers	Fetal Intestine Large	intestine
14	chr15:50476800-50477600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:50477000-50477600	Enhancers	A549	lung
16	chr15:50477200-50477400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:50477200-50477400	Enhancers	HepG2	liver
18	chr15:50477200-50477600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr15:50477200-50477800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr15:50477200-50477800	Enhancers	Placenta	Placenta

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