Variant report

Variant	rs74014929
Chromosome Location	chr15:50480005-50480006
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	MAFF	chr15:50479749-50480104	HepG2	liver:	n/a	n/a
2	MAFK	chr15:50479778-50480103	K562	blood:	n/a	chr15:50479972-50479986 chr15:50479973-50479984 chr15:50479974-50479985
3	CEBPB	chr15:50479747-50480475	HepG2	liver:	n/a	chr15:50479999-50480012 chr15:50479859-50479872 chr15:50479999-50480012
4	MAFF	chr15:50479783-50480095	K562	blood:	n/a	n/a
5	MAFK	chr15:50479743-50480109	HepG2	liver:	n/a	chr15:50479972-50479986 chr15:50479973-50479984 chr15:50479974-50479985
6	CEBPB	chr15:50479861-50480318	K562	blood:	n/a	chr15:50479999-50480012 chr15:50479999-50480012
7	MAFK	chr15:50479761-50480094	IMR90	lung:	n/a	chr15:50479972-50479986 chr15:50479973-50479984 chr15:50479974-50479985
8	MAFK	chr15:50479832-50480021	H1-hESC	embryonic stem cell:	n/a	chr15:50479972-50479986 chr15:50479973-50479984 chr15:50479974-50479985
9	CEBPB	chr15:50479886-50480093	A549	lung:	n/a	chr15:50479999-50480012 chr15:50479999-50480012
10	CEBPB	chr15:50479744-50480185	Hela-S3	cervix:	n/a	chr15:50479999-50480012 chr15:50479859-50479872 chr15:50479999-50480012
11	CEBPB	chr15:50479871-50480093	IMR90	lung:	n/a	chr15:50479999-50480012 chr15:50479999-50480012
12	MAFK	chr15:50479751-50480078	Hela-S3	cervix:	n/a	chr15:50479972-50479986 chr15:50479973-50479984 chr15:50479974-50479985
13	MAFK	chr15:50479754-50480097	HepG2	liver:	n/a	chr15:50479972-50479986 chr15:50479973-50479984 chr15:50479974-50479985
14	CEBPB	chr15:50479895-50480182	H1-hESC	embryonic stem cell:	n/a	chr15:50479999-50480012 chr15:50479999-50480012
15	EP300	chr15:50479636-50480051	HepG2	liver:	n/a	chr15:50480000-50480014

No.	Distal block	Cell Line	Cell type
1	chr15:50479780..50482018-chr15:50483690..50485880,3	K562	blood:
2	chr15:50479787..50482018-chr15:50482823..50485880,4	K562	blood:
3	chr15:50474771..50477442-chr15:50478434..50480506,2	MCF-7	breast:
4	chr15:50472301..50476594-chr15:50477538..50481555,4	K562	blood:
5	chr15:50474309..50478509-chr15:50479041..50483050,5	K562	blood:
6	chr15:50479666..50482276-chr15:50642111..50643879,2	MCF-7	breast:
7	chr15:50479166..50481386-chr15:50646068..50648855,2	K562	blood:

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

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

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

rs_ID	r²[population]
rs1365507	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17848320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61367002	1.00[ASN][1000 genomes]
rs74014933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74014938	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8024046	0.83[EUR][1000 genomes]
rs8040133	0.83[EUR][1000 genomes]
rs8040222	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8182064	0.82[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	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:21 , 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	chr15:50477800-50480200	Weak transcription	Adipose Nuclei	Adipose
11	chr15:50478000-50486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
13	chr15:50478800-50487000	Enhancers	Fetal Intestine Large	intestine
14	chr15:50479000-50480200	Genic enhancers	Hela-S3	cervix
15	chr15:50479400-50480400	Weak transcription	K562	blood
16	chr15:50479600-50480400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:50479800-50480200	Enhancers	Liver	Liver
18	chr15:50479800-50481400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:50479800-50481800	Weak transcription	Fetal Intestine Small	intestine
20	chr15:50480000-50480400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:50480000-50490000	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links