Variant report

Variant	rs12198448
Chromosome Location	chr6:30992346-30992347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30992182..30995323-chr6:30998811..31002073,3	K562	blood:
2	chr6:30991705..30994740-chr6:30996173..30998795,3	K562	blood:
3	chr6:30992122..30993777-chr6:30998805..31001666,2	MCF-7	breast:
4	chr6:30990191..30992901-chr6:31003159..31005249,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12196237	0.81[EUR][1000 genomes]
rs12203410	0.89[ASN][1000 genomes]
rs12204688	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12204735	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204842	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207166	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207266	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12208652	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211072	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215548	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17196346	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3869095	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3873342	0.95[ASN][1000 genomes]
rs41288689	0.95[ASN][1000 genomes]
rs57426248	1.00[ASN][1000 genomes]
rs6909998	1.00[ASN][1000 genomes]
rs6910464	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6910475	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926507	0.91[ASN][1000 genomes]
rs73727153	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727154	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727156	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727158	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727160	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	esv3358044	chr6:30940552-31000175	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1812632	chr6:30985635-31002013	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
2	chr6:30989000-30993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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