Variant report

Variant	rs12528518
Chromosome Location	chr6:15153098-15153099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr6:15152988-15153355	K562	blood:	n/a	chr6:15153179-15153190 chr6:15153178-15153193 chr6:15153178-15153193 chr6:15153178-15153193 chr6:15153181-15153192
2	EP300	chr6:15153085-15153283	K562	blood:	n/a	n/a
3	RCOR1	chr6:15153055-15153357	K562	blood:	n/a	n/a
4	TEAD4	chr6:15152856-15153375	K562	blood:	n/a	n/a
5	TEAD4	chr6:15153002-15153299	K562	blood:	n/a	n/a
6	PML	chr6:15152965-15153354	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:15143619..15146318-chr6:15151883..15153386,2	MCF-7	breast:
2	chr6:15106983..15108831-chr6:15151531..15154353,2	K562	blood:
3	chr6:15148839..15151214-chr6:15151716..15153395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264687	TF binding region
ENSG00000264687	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11968994	1.00[ASN][1000 genomes]
rs12524357	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524540	1.00[ASN][1000 genomes]
rs12526221	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527270	1.00[ASN][1000 genomes]
rs12527312	1.00[ASN][1000 genomes]
rs12529010	1.00[ASN][1000 genomes]
rs12529719	1.00[ASN][1000 genomes]
rs12530015	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530231	1.00[ASN][1000 genomes]
rs13193188	1.00[ASN][1000 genomes]
rs13193311	1.00[ASN][1000 genomes]
rs13204596	1.00[ASN][1000 genomes]
rs13213362	1.00[ASN][1000 genomes]
rs13220124	1.00[ASN][1000 genomes]
rs16876112	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460493	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34766885	1.00[ASN][1000 genomes]
rs35003605	1.00[ASN][1000 genomes]
rs57013338	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59109859	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61136001	1.00[ASN][1000 genomes]
rs61271709	1.00[ASN][1000 genomes]
rs6904999	1.00[ASN][1000 genomes]
rs6926190	1.00[ASN][1000 genomes]
rs73357717	1.00[ASN][1000 genomes]
rs73357719	1.00[ASN][1000 genomes]
rs73357720	1.00[ASN][1000 genomes]
rs73357732	1.00[ASN][1000 genomes]
rs73359689	1.00[ASN][1000 genomes]
rs73371691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73373454	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375522	1.00[ASN][1000 genomes]
rs73375538	1.00[ASN][1000 genomes]
rs7746089	1.00[ASN][1000 genomes]
rs9464756	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464758	1.00[ASN][1000 genomes]
rs9464759	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9464760	1.00[ASN][1000 genomes]
rs9464772	1.00[ASN][1000 genomes]
rs9464775	1.00[ASN][1000 genomes]
rs9476767	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476773	1.00[ASN][1000 genomes]
rs9476774	1.00[ASN][1000 genomes]
rs9476777	1.00[ASN][1000 genomes]
rs9476778	1.00[ASN][1000 genomes]
rs9476802	1.00[ASN][1000 genomes]
rs9718146	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830593	chr6:15049636-15244190	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1016007	chr6:15099585-15159098	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2762580	chr6:15105917-15159110	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15153000-15153200	Enhancers	Fetal Muscle Leg	muscle
2	chr6:15153000-15153400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:15153000-15154000	Enhancers	K562	blood

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