Variant report

Variant	rs59594717
Chromosome Location	chr16:30404810-30404811
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
2	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
3	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
4	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
5	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
6	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
7	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
8	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
9	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000169221	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000169217	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56371701	1.00[AMR][1000 genomes]
rs59324423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60628262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60749749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854012	1.00[AMR][1000 genomes]
rs74015013	1.00[AMR][1000 genomes]
rs74015021	1.00[AMR][1000 genomes]
rs74015027	1.00[AMR][1000 genomes]
rs74015028	1.00[AMR][1000 genomes]
rs8045552	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr16:30390800-30405600	Weak transcription	Right Atrium	heart
2	chr16:30391000-30405000	Weak transcription	NHLF	lung
3	chr16:30391000-30405200	Weak transcription	Fetal Brain Female	brain
4	chr16:30391000-30405400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:30402600-30405400	Weak transcription	HSMMtube	muscle
6	chr16:30403800-30405000	Enhancers	HepG2	liver
7	chr16:30403800-30405600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:30404200-30405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:30404200-30405400	Weak transcription	K562	blood
10	chr16:30404800-30405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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