Variant report

Variant	rs73978989
Chromosome Location	chr17:17498220-17498221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17493822..17496529-chr17:17496584..17499360,3	K562	blood:

Variant related genes	Relation type
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73978991	1.00[AFR][1000 genomes]
rs73978993	1.00[AFR][1000 genomes]
rs73978994	1.00[AFR][1000 genomes]
rs73981004	1.00[AFR][1000 genomes]
rs73981006	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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 miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17496200-17508600	Weak transcription	Fetal Intestine Small	intestine
2	chr17:17496400-17500800	Weak transcription	Colonic Mucosa	Colon
3	chr17:17496400-17508200	Weak transcription	Right Atrium	heart
4	chr17:17496400-17508600	Weak transcription	HSMMtube	muscle
5	chr17:17496600-17498600	Weak transcription	Fetal Lung	lung
6	chr17:17496600-17499400	Enhancers	NHEK	skin
7	chr17:17496600-17501000	Weak transcription	Brain Anterior Caudate	brain
8	chr17:17496600-17508600	Weak transcription	Fetal Stomach	stomach
9	chr17:17496600-17508800	Weak transcription	Osteobl	bone
10	chr17:17496800-17498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:17496800-17498800	Weak transcription	Esophagus	oesophagus
12	chr17:17496800-17499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:17496800-17500800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:17496800-17503000	Weak transcription	K562	blood
15	chr17:17496800-17506400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:17497000-17508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:17497200-17505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:17497400-17499200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:17497600-17499400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:17497800-17498800	Enhancers	HMEC	breast
21	chr17:17498000-17498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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