Variant report

Variant	rs61928603
Chromosome Location	chr12:11311787-11311788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:11311665-11312005	K562	blood:	n/a	n/a
2	ZNF143	chr12:11311749-11311883	K562	blood:	n/a	n/a
3	MAFF	chr12:11311730-11311926	K562	blood:	n/a	n/a
4	ATF1	chr12:11311644-11311853	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAS2R30-1	chr12:11311384-11312293	NONHSAT026921

Variant related genes	Relation type
RNU6-676P	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1047710	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1047713	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1427754	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650016	0.90[ASN][1000 genomes]
rs1650019	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650021	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650022	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650023	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1650024	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1650025	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650026	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650027	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650028	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650032	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650033	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650034	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1650035	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669406	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1669407	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669409	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669415	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669416	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669417	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669420	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669421	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669424	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669425	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669426	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669430	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669431	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669432	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669433	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669435	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1669436	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs187328	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2597953	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2597974	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2597975	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2599399	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2600337	1.00[ASN][1000 genomes]
rs2600340	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2600347	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2600373	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2708334	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2708336	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2708347	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2708351	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2900127	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319266	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319269	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319270	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319276	0.90[ASN][1000 genomes]
rs319277	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34692077	0.88[AFR][1000 genomes]
rs35318883	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763632	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763636	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4763637	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61928567	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928604	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928606	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928609	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928614	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928615	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928650	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61931269	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931280	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66789087	0.85[ASN][1000 genomes]
rs67595273	0.85[ASN][1000 genomes]
rs68071847	0.85[ASN][1000 genomes]
rs7296270	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298947	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053413	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7487324	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962445	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973298	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs977474	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[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	nsv1042134	chr12:11220712-11328131	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs61928603	TAS2R20	cis	Esophagus Muscularis	GTEx
rs61928603	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs61928603	PRR4	cis	Thyroid	GTEx
rs61928603	PRR4	cis	Artery Tibial	GTEx
rs61928603	TAS2R31	cis	lung	GTEx
rs61928603	TAS2R15	cis	Thyroid	GTEx
rs61928603	TAS2R20	cis	lung	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11262200-11314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:11262800-11318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:11268600-11312600	Weak transcription	Hela-S3	cervix
4	chr12:11270400-11323200	Weak transcription	Fetal Kidney	kidney
5	chr12:11273800-11321800	Weak transcription	Osteobl	bone
6	chr12:11276800-11311800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:11279400-11311800	Weak transcription	HepG2	liver
8	chr12:11282400-11318200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:11286600-11318600	Weak transcription	Ovary	ovary
10	chr12:11287600-11312600	Weak transcription	NHDF-Ad	bronchial
11	chr12:11289000-11312000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:11291600-11321800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:11292400-11312600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:11294600-11313400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:11295600-11313400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:11295800-11318400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:11297400-11318400	Weak transcription	Thymus	Thymus
18	chr12:11297600-11315200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:11297800-11318400	Weak transcription	Aorta	Aorta
20	chr12:11297800-11318400	Weak transcription	Lung	lung
21	chr12:11297800-11321600	Weak transcription	Brain Angular Gyrus	brain
22	chr12:11298000-11313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11301000-11313000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:11301000-11318200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:11301600-11316600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:11301600-11318200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:11301600-11323200	Weak transcription	Colonic Mucosa	Colon
28	chr12:11302000-11311800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:11302000-11317800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:11302000-11321200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:11302200-11318400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:11302600-11323200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:11302800-11312000	Weak transcription	Right Ventricle	heart
34	chr12:11303800-11313600	Weak transcription	Brain Substantia Nigra	brain
35	chr12:11303800-11318200	Weak transcription	Placenta	Placenta
36	chr12:11303800-11318400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:11303800-11323600	Weak transcription	Esophagus	oesophagus
38	chr12:11304000-11313000	Weak transcription	Fetal Stomach	stomach
39	chr12:11304000-11313400	Weak transcription	Fetal Thymus	thymus
40	chr12:11304000-11313600	Weak transcription	Left Ventricle	heart
41	chr12:11304000-11316600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:11304000-11318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:11304000-11318400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:11304000-11321200	Weak transcription	Fetal Brain Male	brain
45	chr12:11304000-11322600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:11304000-11323200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:11304000-11323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:11304000-11323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:11304200-11313400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:11304200-11313600	Weak transcription	HSMM	muscle

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