Variant report

Variant	rs6594644
Chromosome Location	chr5:112034596-112034597
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112023980..112026718-chr5:112033004..112035530,2	K562	blood:
2	chr5:112032150..112034629-chr5:112042719..112045906,3	MCF-7	breast:
3	chr5:112034128..112036849-chr5:112042865..112044838,2	MCF-7	breast:
4	chr5:112032190..112036026-chr5:112043206..112045704,4	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10051624	0.80[EUR][1000 genomes]
rs10073398	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10076641	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10463643	0.92[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs11749632	0.84[EUR][1000 genomes]
rs11954856	0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12513804	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12659119	0.85[EUR][1000 genomes]
rs12719151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1441375	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs1465910	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1661035	0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs1661036	0.88[ASN][1000 genomes]
rs1816769	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2020383	0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2431242	0.83[EUR][1000 genomes]
rs2439591	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2900066	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909786	0.80[EUR][1000 genomes]
rs2909787	0.80[EUR][1000 genomes]
rs2909958	0.80[EUR][1000 genomes]
rs35130225	0.84[EUR][1000 genomes]
rs3846716	0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4099181	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs464002	0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs468179	0.88[ASN][1000 genomes]
rs4705609	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56335290	0.99[ASN][1000 genomes]
rs62364017	0.81[EUR][1000 genomes]
rs6594643	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6864688	0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6867243	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6894351	0.92[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6898133	0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs861674	0.86[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9326862	0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9326863	0.84[EUR][1000 genomes]
rs953916	0.84[EUR][1000 genomes]
rs971517	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3368852	chr5:112034491-112034698	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112033400-112039400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:112033400-112042600	Weak transcription	Ovary	ovary
3	chr5:112034000-112036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:112034000-112039200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links