Variant report

Variant	rs319276
Chromosome Location	chr12:11336681-11336682
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1047710	1.00[ASN][1000 genomes]
rs1047711	0.83[ASN][1000 genomes]
rs1047713	1.00[ASN][1000 genomes]
rs1427754	1.00[ASN][1000 genomes]
rs1650016	1.00[ASN][1000 genomes]
rs1650019	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1650021	1.00[ASN][1000 genomes]
rs1650022	1.00[ASN][1000 genomes]
rs1650023	0.91[ASN][1000 genomes]
rs1650024	0.91[ASN][1000 genomes]
rs1650025	1.00[ASN][1000 genomes]
rs1650026	1.00[ASN][1000 genomes]
rs1650027	1.00[ASN][1000 genomes]
rs1650028	1.00[ASN][1000 genomes]
rs1650032	1.00[ASN][1000 genomes]
rs1650033	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1650034	1.00[ASN][1000 genomes]
rs1650035	1.00[ASN][1000 genomes]
rs1669406	1.00[ASN][1000 genomes]
rs1669407	1.00[ASN][1000 genomes]
rs1669409	1.00[ASN][1000 genomes]
rs1669415	1.00[ASN][1000 genomes]
rs1669416	1.00[ASN][1000 genomes]
rs1669417	1.00[ASN][1000 genomes]
rs1669419	0.86[ASN][1000 genomes]
rs1669420	1.00[ASN][1000 genomes]
rs1669421	1.00[ASN][1000 genomes]
rs1669424	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1669425	1.00[ASN][1000 genomes]
rs1669426	1.00[ASN][1000 genomes]
rs1669430	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1669431	1.00[ASN][1000 genomes]
rs1669432	1.00[ASN][1000 genomes]
rs1669433	1.00[ASN][1000 genomes]
rs1669434	0.86[ASN][1000 genomes]
rs1669435	1.00[ASN][1000 genomes]
rs1669436	0.95[ASN][1000 genomes]
rs187328	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2597953	0.80[ASN][1000 genomes]
rs2597974	0.80[ASN][1000 genomes]
rs2597975	0.80[ASN][1000 genomes]
rs2599399	0.80[ASN][1000 genomes]
rs2600337	0.90[ASN][1000 genomes]
rs2600340	0.80[ASN][1000 genomes]
rs2600347	0.80[ASN][1000 genomes]
rs2600373	1.00[ASN][1000 genomes]
rs2708334	0.80[ASN][1000 genomes]
rs2708336	0.80[ASN][1000 genomes]
rs2708347	0.80[ASN][1000 genomes]
rs2708351	0.80[ASN][1000 genomes]
rs2900127	1.00[ASN][1000 genomes]
rs319266	1.00[ASN][1000 genomes]
rs319269	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs319270	1.00[ASN][1000 genomes]
rs319272	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs319277	1.00[ASN][1000 genomes]
rs35318883	0.90[ASN][1000 genomes]
rs4763241	0.80[ASN][1000 genomes]
rs4763632	0.90[ASN][1000 genomes]
rs4763636	0.81[ASN][1000 genomes]
rs4763637	1.00[ASN][1000 genomes]
rs61928567	0.90[ASN][1000 genomes]
rs61928603	0.90[ASN][1000 genomes]
rs61928604	0.90[ASN][1000 genomes]
rs61928606	0.90[ASN][1000 genomes]
rs61928609	0.90[ASN][1000 genomes]
rs61928614	0.90[ASN][1000 genomes]
rs61928615	0.90[ASN][1000 genomes]
rs61928650	1.00[ASN][1000 genomes]
rs61931269	0.90[ASN][1000 genomes]
rs61931280	0.90[ASN][1000 genomes]
rs66789087	0.95[ASN][1000 genomes]
rs67595273	0.95[ASN][1000 genomes]
rs7296270	0.90[ASN][1000 genomes]
rs7298947	0.90[ASN][1000 genomes]
rs73053413	1.00[ASN][1000 genomes]
rs7487324	0.90[ASN][1000 genomes]
rs7962445	0.90[ASN][1000 genomes]
rs7973298	0.90[ASN][1000 genomes]
rs7978274	1.00[CHB][hapmap]
rs8181	1.00[ASN][1000 genomes]
rs977474	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv898783	chr12:11185236-11338781	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv898784	chr12:11188140-11341521	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3339155	chr12:11333485-11337883	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs319276	PRH1	cis	cerebellum	SCAN
rs319276	TAS2R43	cis	cerebellum	SCAN
rs319276	TAS2R50	cis	parietal	SCAN
rs319276	TAS2R20	cis	cerebellum	SCAN
rs319276	TAS2R43	cis	parietal	SCAN
rs319276	TAS2R31	cis	Nerve Tibial	GTEx
rs319276	TAS2R19	cis	cerebellum	SCAN
rs319276	TAS2R14	cis	cerebellum	SCAN
rs319276	TAS2R31	cis	cerebellum	SCAN
rs319276	TAS2R46	cis	cerebellum	SCAN
rs319276	TAS2R10	cis	cerebellum	SCAN
rs319276	TAS2R9	cis	cerebellum	SCAN
rs319276	TAS2R50	cis	cerebellum	SCAN
rs319276	TAS2R13	cis	cerebellum	SCAN
rs319276	PEX5	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11325600-11338200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11326200-11338600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:11326400-11337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:11328000-11338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:11328800-11340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood

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