Variant report

Variant	rs3106714
Chromosome Location	chr2:180447946-180447947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180441137..180442663-chr2:180445038..180447990,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10048645	0.95[JPT][hapmap]
rs10169561	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10497542	0.90[CHB][hapmap]
rs11687634	0.81[JPT][hapmap]
rs11692794	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12693196	0.95[JPT][hapmap]
rs12693197	0.95[JPT][hapmap]
rs13000027	0.81[ASN][1000 genomes]
rs13000199	0.95[JPT][hapmap]
rs13012946	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs13026689	0.95[JPT][hapmap]
rs13035781	0.81[JPT][hapmap]
rs13411084	0.95[JPT][hapmap]
rs13411180	0.95[JPT][hapmap]
rs1356069	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1515306	0.90[CHB][hapmap]
rs1515310	0.95[CHB][hapmap];0.86[CHD][hapmap];0.92[ASN][1000 genomes]
rs1515315	0.81[JPT][hapmap];0.87[YRI][hapmap]
rs1515317	0.81[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs1533385	0.91[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs1554101	0.81[JPT][hapmap]
rs1606816	0.81[JPT][hapmap]
rs16866810	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs16866832	0.95[JPT][hapmap]
rs16866857	0.81[JPT][hapmap]
rs17818050	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1877943	0.81[JPT][hapmap]
rs2138195	0.85[JPT][hapmap]
rs2176061	0.90[JPT][hapmap]
rs2222031	0.90[JPT][hapmap]
rs2887110	0.95[JPT][hapmap]
rs3106704	0.87[YRI][hapmap]
rs3106712	0.81[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes]
rs3106713	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3112959	0.88[LWK][hapmap];0.83[YRI][hapmap]
rs3112969	0.87[YRI][hapmap]
rs4511690	0.95[JPT][hapmap]
rs4894109	0.85[CHB][hapmap];0.91[CHD][hapmap];0.80[ASN][1000 genomes]
rs4894115	0.81[JPT][hapmap]
rs6707527	0.80[YRI][hapmap]
rs6717795	0.81[JPT][hapmap]
rs7425514	0.89[JPT][hapmap]
rs7558351	0.81[JPT][hapmap]
rs7593595	0.95[JPT][hapmap]
rs7601398	0.80[JPT][hapmap]
rs872158	0.81[JPT][hapmap]
rs872159	0.81[JPT][hapmap]
rs872160	0.81[JPT][hapmap]
rs908287	0.85[CHB][hapmap]
rs979901	0.90[JPT][hapmap]
rs988290	0.95[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3106714	DUSP19	cis	cerebellum	SCAN
rs3106714	TTC30A	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180445200-180450600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr2:180445600-180449400	Weak transcription	Right Atrium	heart
4	chr2:180445800-180449200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:180445800-180449200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:180445800-180449200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:180446000-180449200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180446200-180449200	Weak transcription	Fetal Heart	heart
9	chr2:180446400-180449200	Weak transcription	Liver	Liver
10	chr2:180446800-180449200	Weak transcription	HepG2	liver

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