Variant report

Variant	rs4288845
Chromosome Location	chr12:11094446-11094447
allele	A/G
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	GATA3	chr12:11094384-11094740	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr12:11094348-11094827	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr12:11094411-11094789	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
TAS2R14	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1013312	0.88[EUR][1000 genomes]
rs10732561	0.91[EUR][1000 genomes]
rs10734843	0.89[EUR][1000 genomes]
rs10743929	0.88[EUR][1000 genomes]
rs10743930	0.88[EUR][1000 genomes]
rs10743936	0.90[EUR][1000 genomes]
rs10772371	0.88[EUR][1000 genomes]
rs10772392	0.95[EUR][1000 genomes]
rs10772395	0.94[EUR][1000 genomes]
rs10772398	0.94[EUR][1000 genomes]
rs10845224	0.88[EUR][1000 genomes]
rs11054053	0.88[EUR][1000 genomes]
rs11054054	0.88[EUR][1000 genomes]
rs12371547	0.88[EUR][1000 genomes]
rs1376249	0.91[EUR][1000 genomes]
rs1463237	0.91[EUR][1000 genomes]
rs1520225	0.88[EUR][1000 genomes]
rs1607694	0.88[EUR][1000 genomes]
rs16925194	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110097	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110098	0.85[EUR][1000 genomes]
rs2215716	0.82[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	0.88[EUR][1000 genomes]
rs2418215	0.88[EUR][1000 genomes]
rs2418218	0.84[EUR][1000 genomes]
rs2418223	0.95[EUR][1000 genomes]
rs2900550	1.00[ASN][1000 genomes]
rs2900552	0.88[EUR][1000 genomes]
rs2900577	0.91[EUR][1000 genomes]
rs34521533	1.00[ASN][1000 genomes]
rs3741843	0.95[EUR][1000 genomes]
rs3851578	1.00[ASN][1000 genomes]
rs3911150	1.00[ASN][1000 genomes]
rs4281556	0.88[EUR][1000 genomes]
rs4388985	0.90[EUR][1000 genomes]
rs4763217	0.88[EUR][1000 genomes]
rs4763598	0.94[EUR][1000 genomes]
rs55748583	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55834906	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862154	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621112	1.00[ASN][1000 genomes]
rs6488328	1.00[ASN][1000 genomes]
rs6488333	0.94[EUR][1000 genomes]
rs66679979	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666841	1.00[ASN][1000 genomes]
rs67458095	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684208	1.00[ASN][1000 genomes]
rs7297167	0.90[EUR][1000 genomes]
rs7299578	1.00[ASN][1000 genomes]
rs73045955	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73051630	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052447	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052449	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052454	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053768	0.96[EUR][1000 genomes]
rs73053785	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054354	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054361	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054364	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306087	0.91[EUR][1000 genomes]
rs73066828	1.00[ASN][1000 genomes]
rs73066852	1.00[ASN][1000 genomes]
rs7315843	0.91[EUR][1000 genomes]
rs7486983	0.95[EUR][1000 genomes]
rs7978300	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4288845	TAS2R48	Cis_1M	lymphoblastoid	RTeQTL
rs4288845	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs4288845	TAS2R45	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:11078400-11095800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:11080000-11095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:11080000-11101600	Weak transcription	Left Ventricle	heart
6	chr12:11080400-11095400	Weak transcription	Psoas Muscle	Psoas
7	chr12:11082000-11101000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:11082200-11094800	Weak transcription	HepG2	liver
9	chr12:11089600-11094800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:11091400-11095600	Enhancers	NHEK	skin
11	chr12:11091600-11095600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:11091600-11095800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:11091600-11095800	Enhancers	HMEC	breast
14	chr12:11092800-11095000	Weak transcription	GM12878-XiMat	blood
15	chr12:11093000-11095400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:11093200-11094600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:11093400-11094600	Weak transcription	A549	lung
18	chr12:11093800-11094800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:11094200-11094600	Weak transcription	NH-A	brain
20	chr12:11094200-11095400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:11094400-11094800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:11094400-11095400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:11094400-11095600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:11094400-11096000	Enhancers	Dnd41	blood

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