Variant report

Variant	rs57000259
Chromosome Location	chr7:26678856-26678857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26677985..26680771-chr7:26686507..26688099,2	K562	blood:
2	chr7:26472363..26474501-chr7:26678553..26680517,2	K562	blood:
3	chr7:26548205..26550770-chr7:26678348..26680933,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1012803	0.94[ASN][1000 genomes]
rs1015857	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230708	0.85[EUR][1000 genomes]
rs10242687	0.93[ASN][1000 genomes]
rs10248160	0.86[ASN][1000 genomes]
rs10251530	0.82[EUR][1000 genomes]
rs10252153	0.82[EUR][1000 genomes]
rs10276138	0.82[EUR][1000 genomes]
rs1029436	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10486470	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486471	0.98[EUR][1000 genomes]
rs1125542	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11972163	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12668342	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671270	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154152	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17154189	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2106904	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391305	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2391306	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28639403	0.82[EUR][1000 genomes]
rs35970226	0.98[EUR][1000 genomes]
rs4722627	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57999903	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58317468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58394627	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58630663	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59304553	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59641892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60101479	0.82[EUR][1000 genomes]
rs62446548	0.82[EUR][1000 genomes]
rs62446549	0.82[EUR][1000 genomes]
rs62446555	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6461960	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6943736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944239	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960206	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6962850	0.82[EUR][1000 genomes]
rs6967136	0.82[EUR][1000 genomes]
rs6967151	0.82[EUR][1000 genomes]
rs6967592	0.82[EUR][1000 genomes]
rs6968658	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72595043	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7782588	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7784174	0.85[EUR][1000 genomes]
rs7785804	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7787608	0.95[ASN][1000 genomes]
rs7798139	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7801042	0.85[EUR][1000 genomes]
rs7804935	0.82[EUR][1000 genomes]
rs7805328	0.80[AMR][1000 genomes]
rs7807676	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26671200-26693200	Weak transcription	Spleen	Spleen
2	chr7:26678400-26693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:26678800-26679400	Weak transcription	K562	blood
4	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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