Variant report

Variant	rs4713419
Chromosome Location	chr6:30993236-30993237
allele	A/G
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	chr6:30992875..30996671-chr6:31006000..31008963,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13194580	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13207269	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13220447	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2894050	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2894052	0.82[ASN][1000 genomes]
rs3869096	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3871466	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3873343	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713416	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713417	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4713418	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9295941	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295942	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348845	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348846	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348847	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348849	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9366764	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9368652	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9378112	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9378113	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9378151	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380204	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380208	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9391701	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9391703	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9391704	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394023	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9394025	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394027	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394031	0.94[EUR][1000 genomes];0.97[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713419	HIST1H1B	cis	cerebellum	SCAN

Chromatin state (count:3 , 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
3	chr6:30993200-30993400	Weak transcription	Left Ventricle	heart

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