Variant report

Variant	rs73409113
Chromosome Location	chr15:50479308-50479309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:50479008-50479420	MCF-7	breast:	n/a	n/a
2	CTCF	chr15:50479160-50479310	NB4	blood:	n/a	n/a
3	SMC3	chr15:50479018-50479340	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr15:50478980-50479347	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr15:50478931-50479405	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50471286..50473926-chr15:50475708..50479311,4	K562	blood:
2	chr15:50474771..50477442-chr15:50478434..50480506,2	MCF-7	breast:
3	chr15:50472301..50476594-chr15:50477538..50481555,4	K562	blood:
4	chr15:50474309..50478509-chr15:50479041..50483050,5	K562	blood:
5	chr15:50479166..50481386-chr15:50646068..50648855,2	K562	blood:
6	chr15:50440388..50441313-chr15:50478952..50479629,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATP8B4	TF binding region
SLC27A2	TF binding region
ENSG00000140284	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000104043	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1365506	0.91[ASN][1000 genomes]
rs16963400	0.91[ASN][1000 genomes]
rs16963414	1.00[EUR][1000 genomes]
rs16963459	1.00[EUR][1000 genomes]
rs16963481	1.00[EUR][1000 genomes]
rs16963485	1.00[EUR][1000 genomes]
rs16963493	1.00[EUR][1000 genomes]
rs16963496	1.00[EUR][1000 genomes]
rs17848325	1.00[EUR][1000 genomes]
rs2238294	1.00[EUR][1000 genomes]
rs3784291	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58548530	1.00[EUR][1000 genomes]
rs60425623	1.00[EUR][1000 genomes]
rs61699680	1.00[EUR][1000 genomes]
rs7163360	1.00[EUR][1000 genomes]
rs7163895	1.00[EUR][1000 genomes]
rs73395108	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	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	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
2	chr15:50476200-50481400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:50476600-50498000	Weak transcription	Pancreas	Pancrea
4	chr15:50477400-50481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:50477600-50481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50477600-50481800	Weak transcription	A549	lung
7	chr15:50477600-50486200	Enhancers	HepG2	liver
8	chr15:50477600-50498000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:50477800-50479400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:50477800-50479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:50477800-50480200	Weak transcription	Adipose Nuclei	Adipose
13	chr15:50478000-50486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
15	chr15:50478800-50487000	Enhancers	Fetal Intestine Large	intestine
16	chr15:50479000-50479400	Enhancers	K562	blood
17	chr15:50479000-50480000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:50479000-50480200	Genic enhancers	Hela-S3	cervix
19	chr15:50479200-50479600	Enhancers	Liver	Liver
20	chr15:50479200-50479800	Enhancers	Fetal Intestine Small	intestine

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