Variant report

Variant	rs60387657
Chromosome Location	chr15:50440693-50440694
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50440388..50441313-chr15:50478952..50479629,3	MCF-7	breast:
2	chr15:50440291..50441191-chr15:50605962..50607640,5	MCF-7	breast:
3	chr15:50440216..50441453-chr15:50606385..50608916,26	MCF-7	breast:
4	chr15:50440301..50441213-chr15:50607839..50608428,2	K562	blood:
5	chr15:50440034..50441559-chr15:50444185..50445949,2	K562	blood:
6	chr15:50436327..50442259-chr15:50645496..50648593,7	MCF-7	breast:
7	chr15:50438596..50441620-chr15:50472701..50475039,3	MCF-7	breast:
8	chr15:50440355..50443331-chr15:50606446..50609339,3	MCF-7	breast:
9	chr15:50440182..50441527-chr15:50607833..50609167,10	MCF-7	breast:
10	chr15:50440668..50441293-chr15:50608012..50608637,2	MCF-7	breast:

No data

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

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11070756	1.00[ASN][1000 genomes]
rs11070757	1.00[ASN][1000 genomes]
rs11854761	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11854881	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11858160	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440837	0.96[ASN][1000 genomes]
rs12906623	0.96[ASN][1000 genomes]
rs12912519	0.96[ASN][1000 genomes]
rs17415862	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17499726	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414037	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34490804	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3803371	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55740521	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55852503	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55853214	0.88[ASN][1000 genomes]
rs55970302	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56083537	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56307748	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57335604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58277329	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59690694	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60383354	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66472276	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72737004	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737014	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737020	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737025	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737026	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737030	1.00[ASN][1000 genomes]
rs72737033	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737034	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737035	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737040	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737046	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737047	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737057	0.83[AMR][1000 genomes]
rs73395114	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8033014	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036098	0.96[ASN][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	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50430600-50442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:50437800-50441200	Weak transcription	HMEC	breast
3	chr15:50437800-50441200	Weak transcription	NHEK	skin
4	chr15:50439000-50441400	Weak transcription	NHDF-Ad	bronchial
5	chr15:50439200-50441200	Weak transcription	Hela-S3	cervix
6	chr15:50439200-50441200	Weak transcription	K562	blood
7	chr15:50439400-50440800	Enhancers	Liver	Liver
8	chr15:50439800-50441800	Enhancers	A549	lung
9	chr15:50440600-50440800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:50440600-50441400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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