Variant report

Variant	rs7170583
Chromosome Location	chr15:50480843-50480844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr15:50479166..50481386-chr15:50646068..50648855,2	K562	blood:

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000140284	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1648347	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17507157	0.85[AMR][1000 genomes]
rs1863510	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28419107	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589332	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28626417	0.88[EUR][1000 genomes]
rs28689603	0.88[EUR][1000 genomes]
rs28726225	0.88[EUR][1000 genomes]
rs6493418	0.85[AMR][1000 genomes]
rs7171600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032032	0.95[AFR][1000 genomes];1.00[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	chr15:50476200-50481400	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	chr15:50478000-50486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
12	chr15:50478800-50487000	Enhancers	Fetal Intestine Large	intestine
13	chr15:50479800-50481400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:50479800-50481800	Weak transcription	Fetal Intestine Small	intestine
15	chr15:50480000-50490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:50480200-50481600	Strong transcription	Hela-S3	cervix
17	chr15:50480400-50482200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:50480400-50501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:50480600-50481000	Weak transcription	K562	blood
20	chr15:50480600-50482800	Enhancers	Liver	Liver

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