Variant report

Variant	rs12190859
Chromosome Location	chr6:27040273-27040274
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27038557..27041239-chr6:27046359..27048606,2	K562	blood:
2	chr6:27037953..27040598-chr6:27044912..27046900,2	MCF-7	breast:
3	chr6:27039128..27042012-chr6:27056135..27058321,3	K562	blood:
4	chr6:27038433..27040422-chr6:27043262..27045621,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10946899	0.92[EUR][1000 genomes]
rs10946900	0.83[ASN][1000 genomes]
rs12192049	0.83[ASN][1000 genomes]
rs12192320	0.83[ASN][1000 genomes]
rs12192446	0.83[ASN][1000 genomes]
rs12192766	0.83[ASN][1000 genomes]
rs12193820	0.83[ASN][1000 genomes]
rs12195144	0.83[ASN][1000 genomes]
rs12199218	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12201498	0.83[ASN][1000 genomes]
rs12201774	0.83[ASN][1000 genomes]
rs12203454	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12203728	0.83[ASN][1000 genomes]
rs12204280	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12205921	0.83[ASN][1000 genomes]
rs12206996	0.83[ASN][1000 genomes]
rs12208534	0.83[ASN][1000 genomes]
rs12209393	0.83[ASN][1000 genomes]
rs12209429	0.83[ASN][1000 genomes]
rs12209456	0.83[ASN][1000 genomes]
rs12213361	0.81[ASN][1000 genomes]
rs12214848	0.83[ASN][1000 genomes]
rs12214930	0.83[ASN][1000 genomes]
rs12215241	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12215773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13207365	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3531	0.83[ASN][1000 genomes]
rs36048693	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3922717	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41269245	0.83[ASN][1000 genomes]
rs4636015	0.83[ASN][1000 genomes]
rs6911234	0.83[ASN][1000 genomes]
rs6940638	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72838266	0.83[ASN][1000 genomes]
rs72838268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72842200	0.83[ASN][1000 genomes]
rs72843607	0.83[ASN][1000 genomes]
rs72843608	0.83[ASN][1000 genomes]
rs72843609	0.81[ASN][1000 genomes]
rs72843611	0.81[ASN][1000 genomes]
rs72843613	0.81[ASN][1000 genomes]
rs7756481	0.83[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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12190859	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs12190859	BTN3A2	cis	Esophagus Mucosa	GTEx
rs12190859	BTN3A2	cis	Nerve Tibial	GTEx
rs12190859	BTN2A2	Cis_1M	lymphoblastoid	RTeQTL
rs12190859	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27034600-27046400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:27036600-27046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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