Variant report

Variant	rs11714123
Chromosome Location	chr3:150193330-150193331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150190395..150192190-chr3:150192308..150195252,2	MCF-7	breast:
2	chr3:150185308..150188037-chr3:150190947..150194724,4	K562	blood:
3	chr3:150125653..150129014-chr3:150192577..150196222,3	K562	blood:
4	chr3:150185308..150187363-chr3:150191883..150194072,2	K562	blood:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10513368	1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10513369	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs10513370	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs10513371	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs10513372	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10513375	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11713072	0.94[EUR][1000 genomes]
rs11714034	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925759	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11928577	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11928948	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13066114	0.93[EUR][1000 genomes]
rs13067910	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13068946	0.94[EUR][1000 genomes]
rs13073230	1.00[JPT][hapmap]
rs13076419	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13089766	0.90[EUR][1000 genomes]
rs1376027	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17278131	1.00[JPT][hapmap]
rs28571974	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2868430	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34106738	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34419133	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34503712	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34647320	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34983941	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35019980	0.90[EUR][1000 genomes]
rs35598887	0.90[EUR][1000 genomes]
rs3749400	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs3773610	1.00[JPT][hapmap]
rs61734437	0.91[EUR][1000 genomes]
rs66816665	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67073112	0.94[EUR][1000 genomes]
rs67100311	0.90[EUR][1000 genomes]
rs6791546	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs6799106	0.94[EUR][1000 genomes]
rs6799981	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs73165716	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73167540	0.91[EUR][1000 genomes]
rs7614772	0.94[EUR][1000 genomes]
rs7618493	1.00[JPT][hapmap]
rs7620193	1.00[JPT][hapmap]
rs7621019	1.00[JPT][hapmap]
rs7623100	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9844735	1.00[JPT][hapmap]

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	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150177000-150200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:150179200-150201000	Weak transcription	Fetal Lung	lung
3	chr3:150187400-150196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:150187800-150201400	Weak transcription	HSMMtube	muscle
5	chr3:150188200-150197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:150188200-150218800	Weak transcription	HSMM	muscle
7	chr3:150188400-150193600	Weak transcription	Osteobl	bone
8	chr3:150188400-150193800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:150193000-150194600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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