Variant report

Variant	rs7976590
Chromosome Location	chr12:12134980-12134981
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10743973	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315516	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12316914	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1574096	0.81[EUR][1000 genomes]
rs1806427	0.82[EUR][1000 genomes]
rs1871286	0.91[ASN][1000 genomes]
rs1904239	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1904241	0.93[ASN][1000 genomes]
rs1904242	0.93[ASN][1000 genomes]
rs4763743	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4763744	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488475	1.00[ASN][1000 genomes]
rs6488476	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488481	0.84[EUR][1000 genomes]
rs7133292	0.82[EUR][1000 genomes]
rs7138656	0.83[AMR][1000 genomes]
rs7305426	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7312970	1.00[ASN][1000 genomes]
rs7954303	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7956839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962986	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7966813	0.84[EUR][1000 genomes]
rs7968948	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7968953	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7972783	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898805	chr12:12119414-12156322	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19512	chr12:12130988-12147206	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7976590	TAS2R13	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12130400-12137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12131000-12135600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:12131000-12135600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:12131600-12135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:12131600-12135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:12131600-12135600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:12132200-12139200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:12132400-12135400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:12132600-12135400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:12132800-12135000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:12132800-12135400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:12133000-12135000	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:12133000-12135600	Enhancers	Primary T cells from cord blood	blood
14	chr12:12133200-12135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:12133600-12137000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:12133800-12135400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:12134000-12135000	Enhancers	NHEK	skin
18	chr12:12134200-12135200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr12:12134400-12135200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:12134400-12135200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:12134400-12135200	Enhancers	Fetal Thymus	thymus
22	chr12:12134400-12135200	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:12134600-12135000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:12134600-12135000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:12134600-12135000	Weak transcription	Right Atrium	heart
26	chr12:12134600-12135000	Enhancers	HSMM	muscle
27	chr12:12134600-12135400	Enhancers	Dnd41	blood
28	chr12:12134600-12135600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:12134600-12136800	Weak transcription	Psoas Muscle	Psoas
30	chr12:12134800-12135000	Enhancers	Osteobl	bone
31	chr12:12134800-12135200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:12134800-12135400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:12134800-12136200	Enhancers	Fetal Brain Male	brain

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