Variant report

Variant	rs55852503
Chromosome Location	chr15:50481429-50481430
allele	C/G
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	REST	chr15:50481336-50481600	Hela-S3	cervix:	n/a	chr15:50481519-50481539 chr15:50481519-50481539
2	ZNF143	chr15:50481375-50481431	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:50481368-50481650	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50480644..50482512-chr15:50681372..50682992,2	MCF-7	breast:
2	chr15:50479780..50482018-chr15:50483690..50485880,3	K562	blood:
3	chr15:50479787..50482018-chr15:50482823..50485880,4	K562	blood:
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	chr15:50481284..50485703-chr15:50645023..50648855,4	MCF-7	breast:

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

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11070756	0.85[ASN][1000 genomes]
rs11070757	0.85[ASN][1000 genomes]
rs11854761	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854881	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858160	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12440837	0.81[ASN][1000 genomes]
rs12906623	0.81[ASN][1000 genomes]
rs12912519	0.81[ASN][1000 genomes]
rs16963441	0.83[AMR][1000 genomes]
rs17415862	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499726	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2414037	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34490804	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803371	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740521	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55853214	0.89[ASN][1000 genomes]
rs55970302	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56083537	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56306192	0.83[AMR][1000 genomes]
rs57335604	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58277329	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59690694	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60383354	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60387657	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66472276	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7182866	0.83[AMR][1000 genomes]
rs72737014	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737020	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737025	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737026	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737028	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737030	0.85[ASN][1000 genomes]
rs72737033	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737034	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737035	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737040	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737046	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737057	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73395114	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8033014	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036098	0.81[ASN][1000 genomes]
rs9672196	0.83[AMR][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	chr15:50476600-50498000	Weak transcription	Pancreas	Pancrea
3	chr15:50477600-50481800	Weak transcription	A549	lung
4	chr15:50477600-50486200	Enhancers	HepG2	liver
5	chr15:50477600-50498000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:50478000-50486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
9	chr15:50478800-50487000	Enhancers	Fetal Intestine Large	intestine
10	chr15:50479800-50481800	Weak transcription	Fetal Intestine Small	intestine
11	chr15:50480000-50490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:50480200-50481600	Strong transcription	Hela-S3	cervix
13	chr15:50480400-50482200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:50480400-50501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:50480600-50482800	Enhancers	Liver	Liver
16	chr15:50481000-50483200	Enhancers	K562	blood
17	chr15:50481400-50482000	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:50481400-50482400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:50481400-50482800	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:50481400-50482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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