Variant report

Variant	rs12530231
Chromosome Location	chr6:15229606-15229607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15222786..15224580-chr6:15227485..15229807,2	MCF-7	breast:
2	chr6:15211420..15213536-chr6:15226040..15230630,4	K562	blood:
3	chr6:15226832..15230438-chr6:15243233..15244837,3	K562	blood:
4	chr6:15226832..15230438-chr6:15243241..15246068,3	K562	blood:

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11968994	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524357	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12524540	1.00[ASN][1000 genomes]
rs12525768	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12526221	1.00[ASN][1000 genomes]
rs12527270	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527312	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528518	1.00[ASN][1000 genomes]
rs12529010	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529719	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530015	0.81[AMR][1000 genomes];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[ASN][1000 genomes]
rs17576261	1.00[ASN][1000 genomes]
rs28460493	1.00[ASN][1000 genomes]
rs34326651	1.00[ASN][1000 genomes]
rs34766885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003605	1.00[ASN][1000 genomes]
rs57013338	1.00[ASN][1000 genomes]
rs59109859	1.00[ASN][1000 genomes]
rs61136001	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61271709	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926190	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357717	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357719	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357720	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357732	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359689	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73371691	1.00[ASN][1000 genomes]
rs73373454	1.00[ASN][1000 genomes]
rs73375522	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375538	1.00[ASN][1000 genomes]
rs7746089	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464756	1.00[ASN][1000 genomes]
rs9464758	1.00[ASN][1000 genomes]
rs9464759	1.00[ASN][1000 genomes]
rs9464760	1.00[ASN][1000 genomes]
rs9464772	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9464775	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476767	0.81[AMR][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	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476804	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9718146	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	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	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr6:15222600-15239400	Weak transcription	Right Atrium	heart
2	chr6:15224400-15242000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:15228400-15235200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:15228400-15239600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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