Variant report

Variant	rs11643959
Chromosome Location	chr16:58770897-58770898
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:58768371..58769991-chr16:58770369..58773348,2	K562	blood:
2	chr16:58766806..58768382-chr16:58768885..58771530,2	K562	blood:
3	chr16:58769989..58772148-chr16:58777618..58779296,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125166	Chromatin interaction
ENSG00000245768	Chromatin interaction
ENSG00000200424	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11076256	0.88[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11643460	0.89[ASN][1000 genomes]
rs11644269	0.89[CEU][hapmap]
rs11646417	0.89[ASN][1000 genomes]
rs11647808	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12921667	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12921819	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12923672	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12924255	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12924700	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924887	0.89[ASN][1000 genomes]
rs12932254	0.81[ASN][1000 genomes]
rs12932751	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34000898	0.89[ASN][1000 genomes]
rs34606766	0.89[ASN][1000 genomes]
rs67219538	0.89[ASN][1000 genomes]
rs71400028	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71400029	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71400030	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7204324	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs73555772	0.89[ASN][1000 genomes]
rs8050744	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8055234	0.81[AMR][1000 genomes];0.86[EUR][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58768400-58773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:58768600-58773000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:58768600-58773000	Weak transcription	Fetal Intestine Small	intestine
4	chr16:58768600-58781000	Weak transcription	Colonic Mucosa	Colon
5	chr16:58768800-58771800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:58768800-58773000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:58768800-58773200	Weak transcription	Liver	Liver
8	chr16:58768800-58775400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:58769200-58773200	Weak transcription	HepG2	liver
10	chr16:58770800-58771000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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