Variant report

Variant	rs10743931
Chromosome Location	chr12:11023567-11023568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1013312	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047699	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10734841	0.94[ASN][1000 genomes]
rs10743927	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10743929	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743930	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743936	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10772369	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772371	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772392	0.81[ASN][1000 genomes]
rs10845220	0.94[ASN][1000 genomes]
rs10845223	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845224	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845225	0.91[AFR][1000 genomes]
rs11054053	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054054	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12371547	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520225	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548804	0.94[ASN][1000 genomes]
rs1607694	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110098	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159899	0.94[ASN][1000 genomes]
rs2159900	0.97[ASN][1000 genomes]
rs2192139	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232958	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2298867	0.83[ASN][1000 genomes]
rs2418106	0.94[ASN][1000 genomes]
rs2418214	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418215	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418218	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2900552	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741843	0.81[ASN][1000 genomes]
rs3759250	0.91[ASN][1000 genomes]
rs4281556	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763217	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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]
rs6488331	0.89[EUR][1000 genomes]
rs654834	0.82[ASN][1000 genomes]
rs668521	0.82[ASN][1000 genomes]
rs7297167	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs741092	0.94[ASN][1000 genomes]
rs763839	0.94[ASN][1000 genomes]
rs7957888	0.94[ASN][1000 genomes]
rs7978300	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs953950	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs965243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10743931	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs10743931	TAS2R48	Cis_1M	lymphoblastoid	RTeQTL
rs10743931	TAS2R15	cis	Thyroid	GTEx
rs10743931	PRR4	cis	Artery Tibial	GTEx
rs10743931	TAS2R45	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
2	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
5	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
6	chr12:11008800-11029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:11008800-11030000	Weak transcription	HSMMtube	muscle
8	chr12:11009200-11029200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:11009200-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:11009600-11030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:11011600-11030000	Weak transcription	Esophagus	oesophagus
13	chr12:11011800-11029800	Weak transcription	Liver	Liver
14	chr12:11011800-11030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:11011800-11030000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:11011800-11031800	Weak transcription	Thymus	Thymus
17	chr12:11012000-11034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:11012200-11031200	Weak transcription	Fetal Stomach	stomach
19	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:11013200-11032800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:11014400-11025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:11014400-11030000	Weak transcription	Ovary	ovary
25	chr12:11014400-11030000	Weak transcription	Pancreas	Pancrea
26	chr12:11014400-11043400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:11014400-11052000	Weak transcription	Fetal Brain Male	brain
28	chr12:11015200-11029200	Weak transcription	Adipose Nuclei	Adipose
29	chr12:11015800-11029400	Weak transcription	Dnd41	blood
30	chr12:11016200-11030000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:11016800-11030000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:11017000-11029400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:11019200-11029600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:11019200-11030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:11019600-11029400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:11019600-11030000	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:11019800-11030000	Weak transcription	Primary B cells from cord blood	blood
38	chr12:11019800-11030000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:11019800-11030200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:11020200-11035800	Weak transcription	Brain Anterior Caudate	brain
41	chr12:11020200-11045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:11021400-11028800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:11021400-11029000	Weak transcription	Primary T cells from cord blood	blood
44	chr12:11021400-11030000	Weak transcription	Aorta	Aorta
45	chr12:11021400-11030000	Weak transcription	Left Ventricle	heart
46	chr12:11021600-11028000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:11021600-11029200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:11021600-11030200	Weak transcription	HepG2	liver

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