Variant report

Variant	rs28454257
Chromosome Location	chr17:17532282-17532283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11651957	0.93[EUR][1000 genomes]
rs11659047	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28583584	0.83[EUR][1000 genomes]
rs28652618	0.83[EUR][1000 genomes]
rs28715719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28884183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030759	0.81[EUR][1000 genomes]
rs56044345	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56177028	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56327101	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57638011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62066215	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62066216	0.85[EUR][1000 genomes]
rs7214988	0.83[EUR][1000 genomes]
rs7217764	0.95[EUR][1000 genomes]
rs7219568	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222759	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7224725	0.83[EUR][1000 genomes]
rs73978990	0.95[EUR][1000 genomes]
rs8071007	0.95[EUR][1000 genomes]
rs8074981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8076601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910151	0.98[EUR][1000 genomes]
rs9911823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912678	0.83[EUR][1000 genomes]
rs9914118	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9944423	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv20304	chr17:17525592-17533785	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17528800-17543400	Weak transcription	Spleen	Spleen
2	chr17:17530600-17536800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:17531800-17532400	Active TSS	Primary T cells from cord blood	blood
4	chr17:17531800-17532400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr17:17531800-17532400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr17:17531800-17532400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:17531800-17532400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr17:17531800-17532400	Flanking Active TSS	GM12878-XiMat	blood
9	chr17:17531800-17532400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr17:17532000-17532400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr17:17532000-17532400	Active TSS	Primary B cells from cord blood	blood
12	chr17:17532000-17532400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr17:17532000-17532400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr17:17532000-17532400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:17532000-17532400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:17532000-17532400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:17532000-17532400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr17:17532000-17532400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:17532000-17532400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:17532000-17532400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:17532000-17532400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:17532000-17532400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr17:17532000-17532600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr17:17532000-17532600	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr17:17532200-17532400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr17:17532200-17532400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr17:17532200-17532400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr17:17532200-17532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr17:17532200-17532400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr17:17532200-17532400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr17:17532200-17532400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr17:17532200-17532400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:17532200-17532400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:17532200-17532400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr17:17532200-17532400	Active TSS	Fetal Thymus	thymus
36	chr17:17532200-17532400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr17:17532200-17532400	Active TSS	Thymus	Thymus
38	chr17:17532200-17534800	Weak transcription	Placenta	Placenta
39	chr17:17532200-17536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:17532200-17536600	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links