Variant report

Variant	rs67595273
Chromosome Location	chr12:11341912-11341913
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11339360..11340873-chr12:11341423..11344007,2	K562	blood:

Variant related genes	Relation type
ENSG00000186136	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1047710	0.95[ASN][1000 genomes]
rs1047713	0.95[ASN][1000 genomes]
rs1427754	0.95[ASN][1000 genomes]
rs1650016	0.95[ASN][1000 genomes]
rs1650019	0.95[ASN][1000 genomes]
rs1650021	0.95[ASN][1000 genomes]
rs1650022	0.95[ASN][1000 genomes]
rs1650023	0.86[ASN][1000 genomes]
rs1650024	0.86[ASN][1000 genomes]
rs1650025	0.95[ASN][1000 genomes]
rs1650026	0.95[ASN][1000 genomes]
rs1650027	0.95[ASN][1000 genomes]
rs1650028	0.95[ASN][1000 genomes]
rs1650032	0.95[ASN][1000 genomes]
rs1650033	0.95[ASN][1000 genomes]
rs1650034	0.95[ASN][1000 genomes]
rs1650035	0.95[ASN][1000 genomes]
rs1669406	0.95[ASN][1000 genomes]
rs1669407	0.95[ASN][1000 genomes]
rs1669409	0.95[ASN][1000 genomes]
rs1669415	0.95[ASN][1000 genomes]
rs1669416	0.95[ASN][1000 genomes]
rs1669417	0.95[ASN][1000 genomes]
rs1669419	0.82[ASN][1000 genomes]
rs1669420	0.95[ASN][1000 genomes]
rs1669421	0.95[ASN][1000 genomes]
rs1669424	0.95[ASN][1000 genomes]
rs1669425	0.95[ASN][1000 genomes]
rs1669426	0.95[ASN][1000 genomes]
rs1669430	0.95[ASN][1000 genomes]
rs1669431	0.95[ASN][1000 genomes]
rs1669432	0.95[ASN][1000 genomes]
rs1669433	0.95[ASN][1000 genomes]
rs1669434	0.82[ASN][1000 genomes]
rs1669435	0.95[ASN][1000 genomes]
rs1669436	0.90[ASN][1000 genomes]
rs187328	0.95[ASN][1000 genomes]
rs2600337	0.85[ASN][1000 genomes]
rs2600373	0.95[ASN][1000 genomes]
rs2900127	0.95[ASN][1000 genomes]
rs319266	0.95[ASN][1000 genomes]
rs319269	0.95[ASN][1000 genomes]
rs319270	0.95[ASN][1000 genomes]
rs319276	0.95[ASN][1000 genomes]
rs319277	0.95[ASN][1000 genomes]
rs35318883	0.85[ASN][1000 genomes]
rs4763632	0.85[ASN][1000 genomes]
rs4763637	0.95[ASN][1000 genomes]
rs61928567	0.85[ASN][1000 genomes]
rs61928603	0.85[ASN][1000 genomes]
rs61928604	0.85[ASN][1000 genomes]
rs61928606	0.85[ASN][1000 genomes]
rs61928609	0.85[ASN][1000 genomes]
rs61928614	0.85[ASN][1000 genomes]
rs61928615	0.85[ASN][1000 genomes]
rs61928650	0.95[ASN][1000 genomes]
rs61931269	0.85[ASN][1000 genomes]
rs61931280	0.85[ASN][1000 genomes]
rs66789087	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296270	0.85[ASN][1000 genomes]
rs7298947	0.85[ASN][1000 genomes]
rs73053413	0.95[ASN][1000 genomes]
rs7487324	0.85[ASN][1000 genomes]
rs7962445	0.85[ASN][1000 genomes]
rs7973298	0.85[ASN][1000 genomes]
rs8181	0.95[ASN][1000 genomes]
rs977474	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	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
7	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
8	esv6668	chr12:11341677-11342469	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3482907	chr12:11341765-11342319	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3517387	chr12:11341782-11342330	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3406239	chr12:11341790-11342312	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3517389	chr12:11341815-11342259	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3482929	chr12:11341815-11342281	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3482896	chr12:11341821-11342285	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3517391	chr12:11341827-11342269	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3482918	chr12:11341835-11342239	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3517388	chr12:11341843-11342265	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3377160	chr12:11341863-11342235	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3482940	chr12:11341885-11342217	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3517390	chr12:11341895-11342218	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3482952	chr12:11341899-11342216	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3517392	chr12:11341899-11342216	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs67595273	PRR4	cis	Thyroid	GTEx
rs67595273	TAS2R20	cis	Esophagus Muscularis	GTEx
rs67595273	RP11-434C1.1	cis	Artery Tibial	GTEx
rs67595273	TAS2R15	cis	Thyroid	GTEx
rs67595273	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs67595273	PRR4	cis	Artery Tibial	GTEx
rs67595273	PRR4	cis	Esophagus Muscularis	GTEx
rs67595273	PRR4	cis	lung	GTEx
rs67595273	LOC338817	cis	intralobular white matter	BrainEAC
rs67595273	TAS2R31	cis	lung	GTEx
rs67595273	RP11-434C1.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood

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