Variant report

Variant	rs28419107
Chromosome Location	chr15:50478878-50478879
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	POLR2A	chr15:50478730-50478937	ProgFib	skin:	n/a	n/a

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:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13329651	0.82[AFR][1000 genomes]
rs1648347	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17507157	1.00[AMR][1000 genomes]
rs1863510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28545814	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28576105	0.86[AFR][1000 genomes]
rs28589332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28626417	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28689603	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28726225	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28883893	0.85[AMR][1000 genomes]
rs6493418	1.00[AMR][1000 genomes]
rs7170583	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032032	0.85[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	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
2	chr15:50476200-50479000	Weak transcription	K562	blood
3	chr15:50476200-50481400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:50476600-50498000	Weak transcription	Pancreas	Pancrea
5	chr15:50477400-50481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50477600-50479000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:50477600-50481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:50477600-50481800	Weak transcription	A549	lung
9	chr15:50477600-50486200	Enhancers	HepG2	liver
10	chr15:50477600-50498000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:50477800-50479400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:50477800-50479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:50477800-50480200	Weak transcription	Adipose Nuclei	Adipose
15	chr15:50478000-50486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:50478200-50479200	Genic enhancers	Fetal Intestine Small	intestine
17	chr15:50478400-50479000	Enhancers	Liver	Liver
18	chr15:50478400-50479000	Strong transcription	Hela-S3	cervix
19	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
20	chr15:50478800-50487000	Enhancers	Fetal Intestine Large	intestine

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