Variant report

Variant	rs839117
Chromosome Location	chr12:86560779-86560780
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86559122..86560912-chr12:86565276..86567562,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10776954	0.84[CEU][hapmap]
rs10858411	0.84[CEU][hapmap]
rs10858412	0.84[CEU][hapmap]
rs1097997	1.00[CEU][hapmap]
rs11117162	0.84[CEU][hapmap]
rs1389292	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs1389294	0.83[CEU][hapmap]
rs1463750	0.90[CEU][hapmap]
rs1493414	0.84[CEU][hapmap]
rs1493417	0.84[CEU][hapmap]
rs1493418	0.84[CEU][hapmap]
rs1532263	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs1628799	0.89[CEU][hapmap]
rs1689364	0.90[CEU][hapmap]
rs2405934	0.84[CEU][hapmap]
rs2406128	0.84[CEU][hapmap]
rs2452803	0.84[CEU][hapmap]
rs2452805	0.83[CEU][hapmap]
rs2452808	0.84[CEU][hapmap]
rs2471565	0.89[CEU][hapmap]
rs6538021	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6538023	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6538027	0.84[CEU][hapmap]
rs7312245	0.84[CEU][hapmap]
rs839094	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839099	1.00[CEU][hapmap]
rs839100	0.90[CEU][hapmap]
rs839107	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs839109	1.00[CEU][hapmap]
rs839112	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839113	1.00[ASN][1000 genomes]
rs839114	1.00[CEU][hapmap]
rs839116	1.00[CEU][hapmap]
rs839134	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839138	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839139	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs839147	1.00[CEU][hapmap]
rs839162	0.84[CEU][hapmap]
rs839183	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839185	1.00[ASN][1000 genomes]
rs839186	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839187	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs839188	1.00[ASN][1000 genomes]
rs839189	1.00[ASN][1000 genomes]
rs839191	1.00[ASN][1000 genomes]
rs844433	0.90[CEU][hapmap]
rs844437	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858213	0.90[CEU][hapmap]
rs866893	1.00[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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	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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