Variant report

Variant	rs848030
Chromosome Location	chr7:12498432-12498433
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	chr7:12497632..12498790-chr7:12662958..12664405,3	K562	blood:
2	chr7:11466869..11467685-chr7:12498254..12498786,2	MCF-7	breast:
3	chr7:12497991..12498705-chr7:12529442..12530188,2	MCF-7	breast:
4	chr7:12496465..12498567-chr7:12529648..12531435,2	K562	blood:
5	chr7:12497629..12498696-chr7:12535919..12536815,4	MCF-7	breast:
6	chr7:12497882..12499037-chr7:12533987..12535337,10	MCF-7	breast:
7	chr7:12497831..12498808-chr7:12529325..12530426,5	K562	blood:
8	chr7:12497885..12498702-chr7:12558562..12559343,2	MCF-7	breast:
9	chr7:12498003..12498630-chr7:12536129..12537096,2	K562	blood:
10	chr7:12497870..12498820-chr7:12528972..12530631,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226690	Chromatin interaction
ENSG00000203523	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1100131	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1100132	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1100139	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1100140	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1100141	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1100142	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1100144	0.89[EUR][1000 genomes]
rs1440023	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs1659967	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1659979	0.82[EUR][1000 genomes]
rs17166055	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1899030	0.84[EUR][1000 genomes]
rs4721111	0.81[EUR][1000 genomes]
rs6977228	0.84[EUR][1000 genomes]
rs702473	0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73052774	0.84[ASN][1000 genomes]
rs847903	0.81[EUR][1000 genomes]
rs847904	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847906	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847911	0.89[ASN][1000 genomes]
rs847912	0.89[ASN][1000 genomes]
rs847913	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847921	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs847925	0.90[ASN][1000 genomes]
rs847927	0.85[ASN][1000 genomes]
rs847928	0.90[ASN][1000 genomes]
rs847935	0.90[ASN][1000 genomes]
rs847939	0.84[EUR][1000 genomes]
rs847946	0.87[EUR][1000 genomes]
rs847948	0.82[EUR][1000 genomes]
rs847960	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847962	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847967	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847969	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847970	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847971	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847972	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847974	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs847975	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847976	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847978	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847981	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847984	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847985	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847986	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs847987	0.87[ASN][1000 genomes]
rs847988	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847990	0.86[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847991	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs847992	0.93[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847993	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847994	0.86[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847996	0.86[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs847997	0.86[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs847998	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs848000	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs848002	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848005	0.80[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848007	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848010	0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848014	0.88[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848017	0.86[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848018	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848019	0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs848024	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs864039	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking 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	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv1801371	chr7:12498138-12522283	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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