Variant report

Variant	rs73978993
Chromosome Location	chr17:17510451-17510452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17504788..17507617-chr17:17507933..17511069,3	K562	blood:
2	chr17:17495233..17498168-chr17:17505537..17510752,5	MCF-7	breast:
3	chr17:17397187..17399727-chr17:17509208..17511781,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73978989	1.00[AFR][1000 genomes]
rs73978991	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:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17507000-17512600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:17507200-17512600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:17508200-17510600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:17508400-17510600	Enhancers	Spleen	Spleen
5	chr17:17508400-17510800	Enhancers	NHDF-Ad	bronchial
6	chr17:17508600-17510600	Enhancers	NHLF	lung
7	chr17:17508600-17515200	Weak transcription	Lung	lung
8	chr17:17509200-17512600	Weak transcription	Right Ventricle	heart
9	chr17:17509400-17515400	Weak transcription	HSMMtube	muscle
10	chr17:17509400-17517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:17509800-17510600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:17509800-17510600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr17:17509800-17512400	Weak transcription	Fetal Intestine Small	intestine
14	chr17:17509800-17512400	Weak transcription	Fetal Stomach	stomach
15	chr17:17509800-17515400	Weak transcription	Left Ventricle	heart
16	chr17:17510200-17510600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
17	chr17:17510200-17515200	Weak transcription	Fetal Heart	heart
18	chr17:17510200-17515400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:17510200-17515400	Weak transcription	Right Atrium	heart
20	chr17:17510400-17510600	Enhancers	K562	blood
21	chr17:17510400-17510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:17510400-17515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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