Variant report

Variant	rs28536528
Chromosome Location	chr17:17574231-17574232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12449807	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28669696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58713387	1.00[ASN][1000 genomes]
rs73292256	1.00[ASN][1000 genomes]
rs73294177	0.82[ASN][1000 genomes]
rs9303142	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9890330	1.00[ASN][1000 genomes]
rs9890929	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891217	1.00[ASN][1000 genomes]
rs9891823	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9897150	0.83[EUR][1000 genomes]
rs9905513	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
9	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17567200-17574400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr17:17567200-17575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:17567200-17579200	Weak transcription	K562	blood
4	chr17:17567400-17575400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:17568200-17576200	Weak transcription	Spleen	Spleen
6	chr17:17569000-17575600	Weak transcription	GM12878-XiMat	blood
7	chr17:17570000-17576000	Weak transcription	Right Ventricle	heart
8	chr17:17570200-17575600	Weak transcription	Hela-S3	cervix
9	chr17:17570800-17574600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:17571000-17575600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:17571400-17574400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr17:17571800-17574600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17572200-17577600	Enhancers	Fetal Heart	heart
14	chr17:17572400-17574600	Weak transcription	HSMMtube	muscle
15	chr17:17572400-17575000	Enhancers	Fetal Brain Male	brain
16	chr17:17572600-17575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:17572800-17574600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:17572800-17575000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:17572800-17575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:17573000-17575000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:17573200-17574600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:17573200-17574800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:17573800-17574400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:17573800-17574600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:17573800-17574800	Enhancers	Fetal Intestine Small	intestine
26	chr17:17573800-17575000	Enhancers	Fetal Intestine Large	intestine
27	chr17:17573800-17575200	Enhancers	Left Ventricle	heart
28	chr17:17573800-17575400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:17573800-17576800	Enhancers	HMEC	breast
30	chr17:17573800-17579200	Weak transcription	Thymus	Thymus
31	chr17:17574000-17574800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:17574000-17575200	Enhancers	Duodenum Mucosa	Duodenum
33	chr17:17574000-17575400	Weak transcription	Fetal Thymus	thymus
34	chr17:17574000-17575800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:17574200-17574400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:17574200-17574400	Enhancers	Brain Germinal Matrix	brain
37	chr17:17574200-17574600	Enhancers	HepG2	liver
38	chr17:17574200-17575600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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