Variant report

Variant	rs1547943
Chromosome Location	chr7:27379399-27379400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27238414-27242313..7:27374130-27379429	K562	blood:

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1007862	0.82[EUR][1000 genomes]
rs10155834	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs10245801	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs10275933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11563447	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563574	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563971	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs11563973	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11563975	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11563976	0.88[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs12674312	0.82[EUR][1000 genomes]
rs17429177	0.89[CEU][hapmap];0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs17429249	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs17429270	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs17438605	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1990123	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2391420	0.93[ASN][1000 genomes]
rs4357199	0.84[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs4719886	0.94[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4719887	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4719889	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4722689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722690	0.87[ASN][1000 genomes]
rs4722691	0.83[ASN][1000 genomes]
rs6462010	0.84[ASN][1000 genomes]
rs6945955	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs6971228	0.84[ASN][1000 genomes]
rs6978314	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722563	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9332393	0.83[EUR][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	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv887893	chr7:27326739-27380936	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27378200-27381800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:27378400-27380000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:27378800-27379800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr7:27379000-27379400	Enhancers	HUVEC	blood vessel
5	chr7:27379000-27379400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr7:27379000-27379600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:27379000-27379600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:27379200-27379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:27379200-27379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:27379200-27379800	Enhancers	A549	lung

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