Variant report

Variant	rs28663143
Chromosome Location	chr17:20895571-20895572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20895064..20900549-chr17:20901410..20906180,6	K562	blood:
2	chr17:20895463..20898047-chr17:20898321..20900254,2	K562	blood:
3	chr17:20846131..20848515-chr17:20895317..20897201,2	MCF-7	breast:
4	chr17:20889603..20892267-chr17:20894765..20897394,3	MCF-7	breast:
5	chr17:20893363..20896072-chr17:20898999..20901703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263986	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10512422	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11650653	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11869201	0.93[EUR][1000 genomes]
rs11869217	0.93[EUR][1000 genomes]
rs11869959	0.93[EUR][1000 genomes]
rs12450389	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12452171	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12937950	0.82[ASN][1000 genomes]
rs16962364	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1871275	0.82[ASN][1000 genomes]
rs2127096	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34354508	0.93[EUR][1000 genomes]
rs35022634	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4381653	0.93[EUR][1000 genomes]
rs4427861	0.93[EUR][1000 genomes]
rs4985942	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985945	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57522885	0.82[ASN][1000 genomes]
rs6587107	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6587113	0.82[ASN][1000 genomes]
rs6587116	0.82[ASN][1000 genomes]
rs66487709	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66516868	0.82[ASN][1000 genomes]
rs719094	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73303698	0.82[ASN][1000 genomes]
rs8072149	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8080321	0.82[ASN][1000 genomes]
rs984007	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9895277	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9895618	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9896853	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9907786	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9909279	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9914758	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9914916	0.94[EUR][1000 genomes];0.82[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	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28663143	RP11-381P6.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20848200-20896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20874600-20896600	Weak transcription	Spleen	Spleen
3	chr17:20881400-20896200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:20886800-20896400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr17:20887000-20896600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr17:20887200-20896000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20891000-20897400	Weak transcription	Gastric	stomach
8	chr17:20892000-20895800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:20892400-20895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:20893000-20901600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:20893800-20895600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:20893800-20895800	Weak transcription	Esophagus	oesophagus
13	chr17:20893800-20896600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:20893800-20901200	Weak transcription	Right Atrium	heart
15	chr17:20894000-20895800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:20894000-20896600	Weak transcription	HSMMtube	muscle
17	chr17:20894200-20895800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:20894200-20895800	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:20894200-20896000	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:20894800-20899000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:20895000-20895800	Weak transcription	Right Ventricle	heart
22	chr17:20895000-20896400	Weak transcription	HepG2	liver
23	chr17:20895200-20896400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr17:20895400-20895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:20895400-20897000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:20895400-20897000	Enhancers	Fetal Heart	heart
27	chr17:20895400-20897000	Enhancers	Pancreas	Pancrea
28	chr17:20895400-20897600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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