Variant report

Variant	rs4499183
Chromosome Location	chr15:50456797-50456798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50454057..50460168-chr15:50645536..50649910,8	MCF-7	breast:
2	chr15:50452950..50455198-chr15:50455553..50458422,2	MCF-7	breast:
3	chr15:50453981..50457039-chr15:50645727..50648852,3	K562	blood:
4	chr15:50453145..50457285-chr15:50473391..50475855,3	MCF-7	breast:

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17848320	1.00[ASN][1000 genomes]
rs1896172	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853214	0.91[AFR][1000 genomes]
rs56362755	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57453862	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58073453	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58282278	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59964408	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61367002	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6493407	0.94[EUR][1000 genomes]
rs7162511	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168544	0.94[EUR][1000 genomes]
rs74012182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74014927	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74014933	1.00[ASN][1000 genomes]
rs8030667	1.00[ASN][1000 genomes]
rs8031195	0.83[EUR][1000 genomes]
rs8034288	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037521	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037819	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038224	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039751	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039753	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040133	1.00[ASN][1000 genomes]
rs8040222	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50454200-50457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:50455000-50458600	Enhancers	Hela-S3	cervix
3	chr15:50455200-50457000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:50455200-50459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:50455200-50459200	Enhancers	HMEC	breast
6	chr15:50455200-50459200	Enhancers	NHEK	skin
7	chr15:50455400-50457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:50455400-50457600	Enhancers	HepG2	liver
9	chr15:50455400-50457800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:50455400-50457800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:50455400-50461400	Enhancers	Liver	Liver
12	chr15:50455600-50457200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:50455600-50457600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:50456000-50456800	Weak transcription	NH-A	brain
15	chr15:50456200-50459200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr15:50456200-50460400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:50456400-50457600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:50456400-50457600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr15:50456400-50458000	Enhancers	NHLF	lung
20	chr15:50456400-50458200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:50456400-50459400	Enhancers	Osteobl	bone
22	chr15:50456600-50457000	Flanking Active TSS	A549	lung
23	chr15:50456600-50458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:50456600-50459200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links