Variant report

Variant	rs4774558
Chromosome Location	chr15:50501904-50501905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50501377..50505318-chr15:50644153..50648632,4	MCF-7	breast:
2	chr15:50473569..50476199-chr15:50500971..50503002,2	MCF-7	breast:
3	chr15:50501206..50504913-chr15:50512773..50516360,3	MCF-7	breast:
4	chr15:50482238..50484019-chr15:50500279..50502780,2	K562	blood:
5	chr15:50497948..50500138-chr15:50500494..50502743,2	MCF-7	breast:
6	chr15:50496479..50501313-chr15:50501450..50504709,5	MCF-7	breast:
7	chr15:50489847..50492729-chr15:50498593..50501909,3	MCF-7	breast:
8	chr15:50501461..50503741-chr15:50645440..50648280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000104043	Chromatin interaction
ENSG00000200605	Chromatin interaction
ENSG00000140284	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12909764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12913823	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914727	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71469686	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50476000-50503400	Weak transcription	Colonic Mucosa	Colon
2	chr15:50477600-50502200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:50478400-50502400	Weak transcription	Placenta	Placenta
4	chr15:50482000-50502800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:50489400-50502200	Strong transcription	Hela-S3	cervix
6	chr15:50492600-50503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:50494000-50502000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:50494600-50502000	Strong transcription	Fetal Intestine Large	intestine
9	chr15:50497400-50502600	Strong transcription	Primary hematopoietic stem cells	blood
10	chr15:50497800-50502400	Strong transcription	Fetal Intestine Small	intestine
11	chr15:50498000-50515200	Weak transcription	K562	blood
12	chr15:50498200-50504800	Strong transcription	Liver	Liver
13	chr15:50498800-50502600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:50499000-50502600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:50499200-50502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:50500400-50502200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:50500800-50502200	Strong transcription	HepG2	liver
18	chr15:50501000-50503400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:50501000-50503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:50501400-50502200	Enhancers	NHEK	skin
21	chr15:50501400-50503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:50501600-50502600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr15:50501600-50503000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:50501600-50503400	Enhancers	HMEC	breast
25	chr15:50501600-50503600	Enhancers	Esophagus	oesophagus
26	chr15:50501800-50502400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:50501800-50502600	Strong transcription	A549	lung
28	chr15:50501800-50505200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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