Variant report

Variant	rs16999393
Chromosome Location	chr20:52930673-52930674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52836744..52838613-chr20:52929896..52931739,2	MCF-7	breast:
2	chr20:52925826..52928871-chr20:52929162..52931995,4	MCF-7	breast:
3	chr20:52823610..52826517-chr20:52930381..52934247,3	MCF-7	breast:
4	chr20:52922402..52924055-chr20:52929439..52931142,2	MCF-7	breast:
5	chr20:52823879..52827026-chr20:52929276..52932008,3	MCF-7	breast:
6	chr17:59492385..59494445-chr20:52930380..52933375,2	MCF-7	breast:
7	chr20:52928133..52930874-chr20:52932134..52934559,2	K562	blood:

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10485791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1157418	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1293134	0.83[ASN][1000 genomes]
rs1343081	0.83[ASN][1000 genomes]
rs1477734	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1477735	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs16999299	1.00[CHB][hapmap]
rs16999320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs16999351	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs16999389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292116	0.85[CEU][hapmap]
rs56947353	1.00[ASN][1000 genomes]
rs6013954	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6013957	0.82[ASN][1000 genomes]
rs6013964	0.94[ASN][1000 genomes]
rs6023079	0.82[CEU][hapmap]
rs6023086	0.90[CHB][hapmap]
rs6023089	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6023092	0.83[ASN][1000 genomes]
rs6023096	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6023105	0.87[ASN][1000 genomes]
rs6023107	0.94[ASN][1000 genomes]
rs60650892	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60900910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6097910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6097911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6097912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67291713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67348261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67738640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7265344	1.00[ASN][1000 genomes]
rs7266330	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs768113	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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 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
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