Variant report

Variant	rs73052447
Chromosome Location	chr12:11020630-11020631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11019756..11020639-chr12:11381127..11381814,2	MCF-7	breast:
2	chr12:11020127..11020741-chr12:11054048..11054735,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1013312	0.95[EUR][1000 genomes]
rs10732561	0.84[EUR][1000 genomes]
rs10734843	0.84[EUR][1000 genomes]
rs10743929	0.95[EUR][1000 genomes]
rs10743930	0.95[EUR][1000 genomes]
rs10743936	0.83[EUR][1000 genomes]
rs10772371	0.95[EUR][1000 genomes]
rs10772392	0.88[EUR][1000 genomes]
rs10772395	0.87[EUR][1000 genomes]
rs10772398	0.87[EUR][1000 genomes]
rs10845224	0.95[EUR][1000 genomes]
rs11054053	0.95[EUR][1000 genomes]
rs11054054	0.95[EUR][1000 genomes]
rs12371547	0.95[EUR][1000 genomes]
rs12371728	1.00[ASN][1000 genomes]
rs1376249	0.84[EUR][1000 genomes]
rs1463237	0.84[EUR][1000 genomes]
rs1520225	0.95[EUR][1000 genomes]
rs1607694	0.95[EUR][1000 genomes]
rs16925194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110097	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110098	0.93[EUR][1000 genomes]
rs2215716	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232956	1.00[ASN][1000 genomes]
rs2418105	1.00[ASN][1000 genomes]
rs2418214	0.95[EUR][1000 genomes]
rs2418215	0.95[EUR][1000 genomes]
rs2418218	0.91[EUR][1000 genomes]
rs2418223	0.88[EUR][1000 genomes]
rs2900550	1.00[ASN][1000 genomes]
rs2900552	0.95[EUR][1000 genomes]
rs2900577	0.84[EUR][1000 genomes]
rs3741843	0.88[EUR][1000 genomes]
rs3851578	1.00[ASN][1000 genomes]
rs3911150	1.00[ASN][1000 genomes]
rs4281556	0.95[EUR][1000 genomes]
rs4288845	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388985	0.83[EUR][1000 genomes]
rs4763217	0.95[EUR][1000 genomes]
rs4763598	0.87[EUR][1000 genomes]
rs55748583	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55834906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862154	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621112	1.00[ASN][1000 genomes]
rs6488328	1.00[ASN][1000 genomes]
rs6488333	0.87[EUR][1000 genomes]
rs66679979	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666841	1.00[ASN][1000 genomes]
rs67458095	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684208	1.00[ASN][1000 genomes]
rs7297167	0.83[EUR][1000 genomes]
rs7299578	1.00[ASN][1000 genomes]
rs73045955	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73051630	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053768	0.89[EUR][1000 genomes]
rs73053785	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054354	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054361	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054364	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306087	0.84[EUR][1000 genomes]
rs7315843	0.84[EUR][1000 genomes]
rs7486983	0.88[EUR][1000 genomes]
rs7978300	0.89[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73052447	TAS2R15	cis	Muscle Skeletal	GTEx

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	chr12:11012000-11021000	Weak transcription	HepG2	liver
18	chr12:11012000-11034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:11012200-11031200	Weak transcription	Fetal Stomach	stomach
20	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:11013200-11032800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:11014400-11021000	Weak transcription	Left Ventricle	heart
25	chr12:11014400-11025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:11014400-11030000	Weak transcription	Ovary	ovary
27	chr12:11014400-11030000	Weak transcription	Pancreas	Pancrea
28	chr12:11014400-11043400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:11014400-11052000	Weak transcription	Fetal Brain Male	brain
30	chr12:11015200-11029200	Weak transcription	Adipose Nuclei	Adipose
31	chr12:11015800-11029400	Weak transcription	Dnd41	blood
32	chr12:11016200-11030000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:11016800-11030000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:11017000-11029400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:11019200-11029600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:11019200-11030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:11019600-11021400	Strong transcription	Primary T cells from cord blood	blood
38	chr12:11019600-11029400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:11019600-11030000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:11019800-11020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:11019800-11020800	Weak transcription	Aorta	Aorta
42	chr12:11019800-11030000	Weak transcription	Primary B cells from cord blood	blood
43	chr12:11019800-11030000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:11019800-11030200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:11020200-11021400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:11020200-11035800	Weak transcription	Brain Anterior Caudate	brain
47	chr12:11020200-11045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:11020400-11021600	Strong transcription	Fetal Muscle Leg	muscle

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