Variant report

Variant	rs28380387
Chromosome Location	chr16:70835831-70835832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr16:70834003-70835996	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr16:70835566-70835879	HepG2	liver:	n/a	chr16:70835727-70835742
3	MXI1	chr16:70834073-70836008	IMR90	lung:	n/a	n/a
4	MAFK	chr16:70835563-70835918	HepG2	liver:	n/a	chr16:70835727-70835742

No.	Distal block	Cell Line	Cell type
1	chr16:70780127..70782927-chr16:70835296..70837245,2	K562	blood:
2	chr16:70835151..70836653-chr16:70837410..70838920,2	K562	blood:
3	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13335583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2089188	1.00[AMR][1000 genomes]
rs28368831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28621024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28696695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200827	1.00[AMR][1000 genomes]
rs73577132	0.90[AFR][1000 genomes]
rs73577137	0.87[AFR][1000 genomes]
rs73577152	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577159	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935722	1.00[AFR][1000 genomes];1.00[AMR][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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70835000-70836000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:70835400-70836000	Enhancers	Fetal Muscle Leg	muscle
3	chr16:70835400-70836000	Enhancers	NH-A	brain
4	chr16:70835400-70837600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70835400-70837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:70835400-70838000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:70835400-70838000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:70835400-70838600	Weak transcription	HUVEC	blood vessel
9	chr16:70835600-70836000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr16:70835600-70836000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:70835600-70836000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:70835600-70836200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr16:70835600-70836800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:70835600-70837600	Weak transcription	HMEC	breast
15	chr16:70835600-70837800	Weak transcription	NHLF	lung
16	chr16:70835600-70838000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:70835600-70842800	Weak transcription	Brain Anterior Caudate	brain
18	chr16:70835800-70836000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr16:70835800-70837000	Weak transcription	Osteobl	bone
20	chr16:70835800-70837600	Weak transcription	Placenta	Placenta
21	chr16:70835800-70837600	Weak transcription	Hela-S3	cervix
22	chr16:70835800-70837600	Weak transcription	HSMMtube	muscle
23	chr16:70835800-70839200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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