Variant report

Variant	rs16869693
Chromosome Location	chr5:17318109-17318110
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17315747..17318184-chr5:17334955..17337924,3	MCF-7	breast:
2	chr5:17305002..17307574-chr5:17318005..17319860,2	MCF-7	breast:
3	chr5:17216018..17220506-chr5:17315410..17318317,7	MCF-7	breast:
4	chr5:17301641..17309650-chr5:17311056..17318411,15	MCF-7	breast:
5	chr5:17216453..17223368-chr5:17315060..17319016,10	MCF-7	breast:
6	chr5:17316888..17318922-chr5:17330105..17331751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215196	Chromatin interaction
ENSG00000185296	Chromatin interaction
ENSG00000176788	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10074496	0.83[ASN][1000 genomes]
rs10075136	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10462609	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11949223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11949279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11950287	0.81[ASN][1000 genomes]
rs13355635	0.83[ASN][1000 genomes]
rs16869688	0.92[ASN][1000 genomes]
rs16869690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1827400	0.83[ASN][1000 genomes]
rs28476505	0.83[ASN][1000 genomes]
rs28665339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56663279	0.83[ASN][1000 genomes]
rs56705013	0.83[ASN][1000 genomes]
rs58468495	0.83[ASN][1000 genomes]
rs6874823	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73052845	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73052871	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73052881	0.83[ASN][1000 genomes]
rs73052887	0.83[ASN][1000 genomes]
rs73052888	0.83[ASN][1000 genomes]
rs73052898	0.83[ASN][1000 genomes]
rs73052901	0.83[ASN][1000 genomes]
rs7719794	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17307000-17320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17315000-17318200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:17315000-17320800	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:17315200-17318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:17315200-17318200	Enhancers	NHLF	lung
6	chr5:17315400-17318600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:17315600-17318400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:17316200-17319000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:17316800-17318200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:17316800-17318400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr5:17317000-17319000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:17317000-17319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:17317000-17320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:17317200-17318200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr5:17317400-17318200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:17317400-17318600	Flanking Active TSS	GM12878-XiMat	blood
17	chr5:17317400-17319400	Enhancers	A549	lung
18	chr5:17317400-17320000	Enhancers	Hela-S3	cervix
19	chr5:17317600-17319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:17317800-17318200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:17317800-17318200	Enhancers	Esophagus	oesophagus
22	chr5:17317800-17318600	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:17317800-17319600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:17318000-17319000	Weak transcription	NHDF-Ad	bronchial
25	chr5:17318000-17325800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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