Variant report

Variant	rs1607694
Chromosome Location	chr12:11010317-11010318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11009323..11011109-chr12:11168207..11170860,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1013312	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047699	0.94[ASN][1000 genomes]
rs10732561	0.87[EUR][1000 genomes]
rs10734841	0.94[ASN][1000 genomes]
rs10734843	0.87[EUR][1000 genomes]
rs10743927	0.94[ASN][1000 genomes]
rs10743929	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743930	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743931	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743936	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10772369	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772371	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772392	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10772395	0.89[EUR][1000 genomes]
rs10772398	0.89[EUR][1000 genomes]
rs10845220	0.94[ASN][1000 genomes]
rs10845223	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845224	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054053	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054054	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12371547	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376249	0.87[EUR][1000 genomes]
rs1463237	0.87[EUR][1000 genomes]
rs1520225	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548804	0.94[ASN][1000 genomes]
rs16925194	0.95[EUR][1000 genomes]
rs2110097	0.88[EUR][1000 genomes]
rs2110098	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159899	0.94[ASN][1000 genomes]
rs2159900	0.97[ASN][1000 genomes]
rs2192139	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215716	0.86[EUR][1000 genomes]
rs2232958	0.91[ASN][1000 genomes]
rs2298867	0.83[ASN][1000 genomes]
rs2418106	0.94[ASN][1000 genomes]
rs2418214	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418215	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418218	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2418223	0.93[EUR][1000 genomes]
rs2900550	0.85[AFR][1000 genomes]
rs2900552	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900577	0.87[EUR][1000 genomes]
rs3741843	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3759250	0.91[ASN][1000 genomes]
rs4281556	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288845	0.88[EUR][1000 genomes]
rs4388985	0.86[EUR][1000 genomes]
rs4763217	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763598	0.91[EUR][1000 genomes]
rs55748583	0.86[EUR][1000 genomes]
rs55834906	0.95[EUR][1000 genomes]
rs55862154	0.86[EUR][1000 genomes]
rs58051461	0.91[ASN][1000 genomes]
rs58836988	0.86[ASN][1000 genomes]
rs592864	0.82[ASN][1000 genomes]
rs60547308	0.91[ASN][1000 genomes]
rs60652912	0.82[ASN][1000 genomes]
rs612456	0.82[ASN][1000 genomes]
rs640372	0.82[ASN][1000 genomes]
rs646494	0.82[ASN][1000 genomes]
rs6488333	0.89[EUR][1000 genomes]
rs654834	0.82[ASN][1000 genomes]
rs66679979	0.86[EUR][1000 genomes]
rs668521	0.82[ASN][1000 genomes]
rs67458095	0.84[EUR][1000 genomes]
rs7297167	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73045955	0.86[EUR][1000 genomes]
rs73051630	0.86[EUR][1000 genomes]
rs73052447	0.95[EUR][1000 genomes]
rs73052449	0.95[EUR][1000 genomes]
rs73052454	0.95[EUR][1000 genomes]
rs73053768	0.84[EUR][1000 genomes]
rs73053785	0.83[EUR][1000 genomes]
rs73054354	0.90[EUR][1000 genomes]
rs73054361	0.83[EUR][1000 genomes]
rs73054364	0.84[EUR][1000 genomes]
rs7306087	0.87[EUR][1000 genomes]
rs7315843	0.87[EUR][1000 genomes]
rs741092	0.94[ASN][1000 genomes]
rs7486983	0.93[EUR][1000 genomes]
rs763839	0.94[ASN][1000 genomes]
rs7957888	0.94[ASN][1000 genomes]
rs7978300	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953950	0.94[ASN][1000 genomes]
rs965243	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1607694	TAS2R15	cis	Muscle Skeletal	GTEx
rs1607694	TAS2R48	Cis_1M	lymphoblastoid	RTeQTL
rs1607694	TAS2R45	N/A	lymphoblastoid	RTeQTL
rs1607694	TAS2R20	cis	lung	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10991400-11010800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
3	chr12:10995600-11010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:10999000-11010600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:11000000-11010400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:11001800-11011400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:11004400-11014200	Weak transcription	Gastric	stomach
10	chr12:11006400-11010800	Weak transcription	Pancreas	Pancrea
11	chr12:11006600-11014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
13	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
14	chr12:11007600-11012200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:11008000-11012200	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr12:11008200-11012200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr12:11008400-11012200	ZNF genes & repeats	Dnd41	blood
18	chr12:11008800-11010800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:11008800-11011200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:11008800-11011600	ZNF genes & repeats	Fetal Lung	lung
21	chr12:11008800-11014000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:11008800-11014000	Weak transcription	Brain Substantia Nigra	brain
23	chr12:11008800-11029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:11008800-11030000	Weak transcription	HSMMtube	muscle
25	chr12:11009000-11011000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:11009000-11011000	Weak transcription	Lung	lung
27	chr12:11009000-11011000	Weak transcription	Spleen	Spleen
28	chr12:11009000-11011400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:11009000-11011800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:11009000-11012800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:11009000-11012800	Weak transcription	Hela-S3	cervix
32	chr12:11009200-11010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:11009200-11010600	Weak transcription	Liver	Liver
34	chr12:11009200-11013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:11009200-11013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:11009200-11029200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:11009200-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:11009400-11010600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:11009600-11010600	Weak transcription	HepG2	liver
41	chr12:11009600-11010800	Weak transcription	Left Ventricle	heart
42	chr12:11009600-11011400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr12:11009600-11030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:11009800-11010600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:11009800-11010800	Weak transcription	Ovary	ovary
46	chr12:11009800-11011000	Weak transcription	Thymus	Thymus
47	chr12:11009800-11014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:11010000-11012600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:11010200-11010800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:11010200-11011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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