Variant report

Variant	rs1473186
Chromosome Location	chr5:164555759-164555760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10076942	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11135348	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11743682	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1368423	0.88[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2052511	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2112641	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs253536	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2861088	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861089	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861093	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35142388	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35660522	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4283809	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4382188	0.87[EUR][1000 genomes]
rs4489083	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4552632	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563646	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588611	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4591770	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6869716	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6869965	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6884321	0.81[AMR][1000 genomes]
rs6896670	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7444721	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447465	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs766120	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs766122	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9314053	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs982305	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995060	chr5:163660200-164620500	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv528624	chr5:164319435-164701201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1033866	chr5:164419608-164677758	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv981007	chr5:164553484-164555778	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164554600-164555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:164554600-164555800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:164554600-164556200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:164554800-164555800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:164555000-164555800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:164555000-164556600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:164555200-164556800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:164555400-164555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:164555400-164557000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:164555600-164556000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:164555600-164556600	Weak transcription	H9 Cell Line	embryonic stem cell

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