Variant report

Variant	rs4985973
Chromosome Location	chr17:20970687-20970688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20943923..20946830-chr17:20969658..20971426,2	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1038107	0.81[AMR][1000 genomes]
rs1038109	0.81[AMR][1000 genomes]
rs11204330	0.81[AMR][1000 genomes]
rs12103803	0.81[AMR][1000 genomes]
rs12150138	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1993901	0.81[AMR][1000 genomes]
rs2009756	0.81[AMR][1000 genomes]
rs2127094	0.81[AMR][1000 genomes]
rs2291036	0.81[AMR][1000 genomes]
rs2364327	0.81[AMR][1000 genomes]
rs2364328	0.81[AMR][1000 genomes]
rs2364329	0.81[AMR][1000 genomes]
rs2364330	0.81[AMR][1000 genomes]
rs2364331	0.81[AMR][1000 genomes]
rs3816664	0.81[AMR][1000 genomes]
rs3943299	0.81[AMR][1000 genomes]
rs4462662	0.92[AMR][1000 genomes]
rs4613123	0.81[AMR][1000 genomes]
rs4985813	0.81[AMR][1000 genomes]
rs4985820	0.81[AMR][1000 genomes]
rs4985824	0.83[AMR][1000 genomes]
rs4985953	0.84[AMR][1000 genomes]
rs4985954	0.81[AMR][1000 genomes]
rs4985955	0.84[AMR][1000 genomes]
rs4985964	0.81[AMR][1000 genomes]
rs4985974	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5005801	0.81[AMR][1000 genomes]
rs6587109	0.85[AMR][1000 genomes]
rs6587115	0.91[AMR][1000 genomes]
rs7207724	0.81[AMR][1000 genomes]
rs7207753	0.81[AMR][1000 genomes]
rs7208779	0.81[AMR][1000 genomes]
rs7213684	0.81[AMR][1000 genomes]
rs7216449	0.81[AMR][1000 genomes]
rs7216786	0.81[AMR][1000 genomes]
rs7216978	0.81[AMR][1000 genomes]
rs7218443	0.81[AMR][1000 genomes]
rs7219244	0.81[AMR][1000 genomes]
rs7221483	0.81[AMR][1000 genomes]
rs7226229	0.81[AMR][1000 genomes]
rs8064435	0.81[AMR][1000 genomes]
rs8077998	0.84[AMR][1000 genomes]
rs899335	0.84[AMR][1000 genomes]
rs899336	0.84[AMR][1000 genomes]
rs899338	0.85[AMR][1000 genomes]
rs899342	0.82[AMR][1000 genomes]
rs9896259	0.81[AMR][1000 genomes]
rs9896301	0.81[AMR][1000 genomes]
rs9902303	0.81[AMR][1000 genomes]
rs996065	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20967400-20973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:20969200-20972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:20970200-20971600	Weak transcription	HSMM	muscle
4	chr17:20970200-20978600	Weak transcription	HSMMtube	muscle
5	chr17:20970400-20972800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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