Variant report

Variant	rs6434269
Chromosome Location	chr2:189136420-189136421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189133770..189136625-chr2:189150414..189152075,2	K562	blood:
2	chr2:189134790..189138324-chr2:189139251..189142315,6	K562	blood:
3	chr2:189136024..189138815-chr2:189144719..189147357,4	K562	blood:
4	chr2:189134912..189137217-chr2:189140451..189142233,3	K562	blood:
5	chr2:189128910..189130678-chr2:189136126..189138896,2	K562	blood:
6	chr2:189136024..189140012-chr2:189145051..189148028,3	K562	blood:

Variant related genes	Relation type
ENSG00000200650	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10174928	0.81[JPT][hapmap]
rs10175259	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10180222	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1036649	0.82[ASN][1000 genomes]
rs10804020	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10931343	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931344	0.84[ASN][1000 genomes]
rs10931355	0.81[JPT][hapmap]
rs10931356	0.80[ASN][1000 genomes]
rs10931359	0.94[JPT][hapmap]
rs11689976	0.82[CEU][hapmap]
rs11900558	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12329399	0.81[JPT][hapmap]
rs12464904	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12465164	0.94[JPT][hapmap]
rs12465625	0.93[JPT][hapmap]
rs12473653	0.93[JPT][hapmap]
rs12613615	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12619361	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12624002	0.94[JPT][hapmap]
rs12693487	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12693489	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12987194	0.81[JPT][hapmap]
rs13008931	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13014693	0.88[ASN][1000 genomes]
rs13389155	0.81[JPT][hapmap]
rs13424536	0.81[JPT][hapmap]
rs1898986	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34189381	0.82[ASN][1000 genomes]
rs35964306	0.88[ASN][1000 genomes]
rs4274570	0.80[JPT][hapmap]
rs4361092	0.81[JPT][hapmap]
rs4398237	0.81[JPT][hapmap]
rs4402719	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4426503	0.93[ASN][1000 genomes]
rs4430902	0.81[JPT][hapmap]
rs4433962	0.81[JPT][hapmap]
rs4500907	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4513258	0.81[JPT][hapmap]
rs4516391	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4522565	0.81[JPT][hapmap]
rs4591312	0.93[ASN][1000 genomes]
rs4610010	0.93[ASN][1000 genomes]
rs4640356	0.81[JPT][hapmap]
rs4641903	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4666758	0.81[JPT][hapmap]
rs4666759	0.85[ASN][1000 genomes]
rs4667215	0.93[ASN][1000 genomes]
rs4667221	0.82[ASN][1000 genomes]
rs4992744	0.81[JPT][hapmap]
rs59106803	0.85[ASN][1000 genomes]
rs62183206	0.85[ASN][1000 genomes]
rs6711822	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6712056	0.93[ASN][1000 genomes]
rs6719273	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67211370	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6724867	0.80[ASN][1000 genomes]
rs6729182	0.81[JPT][hapmap]
rs6739162	0.81[JPT][hapmap]
rs6744150	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744629	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7420700	0.81[JPT][hapmap]
rs7425596	0.93[ASN][1000 genomes]
rs7566619	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7574262	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7585703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7586390	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7593215	0.81[JPT][hapmap]
rs7593546	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7598279	0.97[ASN][1000 genomes]
rs7598785	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7599516	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs893745	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]

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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189131600-189140800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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