Variant report

Variant	rs12693550
Chromosome Location	chr2:190508827-190508828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190445684..190447854-chr2:190508008..190509836,2	K562	blood:
2	chr2:190507159..190510939-chr2:190512994..190516291,4	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1020151	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs10209441	1.00[AMR][1000 genomes]
rs1030135	1.00[ASN][1000 genomes]
rs10931429	1.00[ASW][hapmap];0.88[LWK][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11888192	1.00[YRI][hapmap]
rs11888722	1.00[AMR][1000 genomes]
rs1225086	1.00[AMR][1000 genomes]
rs1225100	0.80[YRI][hapmap]
rs1225103	1.00[AMR][1000 genomes]
rs1225105	0.80[YRI][hapmap]
rs1225106	1.00[ASN][1000 genomes]
rs1225107	1.00[ASN][1000 genomes]
rs1225109	1.00[ASN][1000 genomes]
rs1225110	1.00[ASN][1000 genomes]
rs1225120	1.00[ASN][1000 genomes]
rs1225121	0.80[YRI][hapmap]
rs1233275	1.00[ASN][1000 genomes]
rs1233277	1.00[ASN][1000 genomes]
rs1233281	1.00[ASN][1000 genomes]
rs1233283	1.00[ASN][1000 genomes]
rs1233287	1.00[ASN][1000 genomes]
rs1233289	1.00[ASN][1000 genomes]
rs1233292	1.00[ASN][1000 genomes]
rs1233293	1.00[ASN][1000 genomes]
rs1233294	1.00[ASN][1000 genomes]
rs1233296	1.00[ASN][1000 genomes]
rs1233300	1.00[ASN][1000 genomes]
rs1233303	1.00[ASN][1000 genomes]
rs1437880	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1470100	0.80[YRI][hapmap]
rs1550241	1.00[ASW][hapmap];0.88[LWK][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1550242	1.00[AMR][1000 genomes]
rs16831859	1.00[ASN][1000 genomes]
rs1866643	1.00[ASN][1000 genomes]
rs1898559	0.80[YRI][hapmap]
rs2019099	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2118454	1.00[AMR][1000 genomes]
rs2118455	1.00[ASN][1000 genomes]
rs2164833	1.00[ASN][1000 genomes]
rs2196670	0.80[YRI][hapmap]
rs2254040	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2263968	1.00[AMR][1000 genomes]
rs2352288	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4667301	0.80[YRI][hapmap]
rs5742934	0.80[YRI][hapmap]
rs5742992	1.00[AMR][1000 genomes]
rs5742999	1.00[AMR][1000 genomes]
rs6434356	1.00[ASN][1000 genomes]
rs6434357	1.00[ASN][1000 genomes]
rs6434359	1.00[ASN][1000 genomes]
rs6434369	1.00[ASN][1000 genomes]
rs6706168	1.00[ASN][1000 genomes]
rs6723158	1.00[AMR][1000 genomes]
rs6725344	1.00[ASN][1000 genomes]
rs6735135	1.00[ASN][1000 genomes]
rs6738444	1.00[ASN][1000 genomes]
rs7563275	1.00[ASN][1000 genomes]
rs7606224	1.00[ASN][1000 genomes]
rs893782	1.00[AMR][1000 genomes]
rs893783	1.00[AMR][1000 genomes]
rs930426	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv979380	chr2:190507595-190520005	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190506800-190522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links