Variant report

Variant	rs2900577
Chromosome Location	chr12:11167674-11167675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1013312	0.87[EUR][1000 genomes]
rs10732561	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734843	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743929	0.87[EUR][1000 genomes]
rs10743930	0.87[EUR][1000 genomes]
rs10743936	0.89[EUR][1000 genomes]
rs10743937	0.80[AFR][1000 genomes]
rs10743938	0.93[AFR][1000 genomes]
rs10772371	0.87[EUR][1000 genomes]
rs10772392	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10772395	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772398	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772419	0.80[AFR][1000 genomes]
rs10772420	0.88[AFR][1000 genomes]
rs10845224	0.87[EUR][1000 genomes]
rs10845296	0.93[AFR][1000 genomes]
rs11054053	0.87[EUR][1000 genomes]
rs11054054	0.87[EUR][1000 genomes]
rs12313469	0.80[AFR][1000 genomes]
rs12371547	0.87[EUR][1000 genomes]
rs1376249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520225	0.87[EUR][1000 genomes]
rs1607694	0.87[EUR][1000 genomes]
rs1650019	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1650033	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1669424	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1669430	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs16925194	0.84[EUR][1000 genomes]
rs1817043	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1839565	0.83[ASN][1000 genomes]
rs1839569	1.00[ASN][1000 genomes]
rs1868769	0.99[AFR][1000 genomes]
rs187328	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2110097	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2110098	0.84[EUR][1000 genomes]
rs2215716	0.85[EUR][1000 genomes]
rs2255418	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2257110	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2418214	0.87[EUR][1000 genomes]
rs2418215	0.87[EUR][1000 genomes]
rs2418218	0.85[EUR][1000 genomes]
rs2418223	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2597953	0.80[ASN][1000 genomes]
rs2597974	0.80[ASN][1000 genomes]
rs2597975	0.80[ASN][1000 genomes]
rs2597979	0.93[AFR][1000 genomes]
rs2597984	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2597988	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2597990	1.00[ASN][1000 genomes]
rs2599399	0.80[ASN][1000 genomes]
rs2599415	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2600340	0.80[ASN][1000 genomes]
rs2600347	0.80[ASN][1000 genomes]
rs2708323	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2708334	0.80[ASN][1000 genomes]
rs2708336	0.80[ASN][1000 genomes]
rs2708347	0.80[ASN][1000 genomes]
rs2708351	0.80[ASN][1000 genomes]
rs2708377	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2900552	0.87[EUR][1000 genomes]
rs319269	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs319276	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3741843	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3911150	0.92[CEU][hapmap]
rs4281556	0.87[EUR][1000 genomes]
rs4288845	0.91[EUR][1000 genomes]
rs4388985	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763217	0.87[EUR][1000 genomes]
rs4763598	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55748583	0.93[EUR][1000 genomes]
rs55834906	0.84[EUR][1000 genomes]
rs55862154	0.93[EUR][1000 genomes]
rs56400996	0.85[ASN][1000 genomes]
rs61912077	0.81[AFR][1000 genomes]
rs6488331	0.95[ASN][1000 genomes]
rs6488333	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66679979	0.93[EUR][1000 genomes]
rs67336915	0.83[ASN][1000 genomes]
rs67458095	0.90[EUR][1000 genomes]
rs68071847	0.85[ASN][1000 genomes]
rs7297167	0.89[EUR][1000 genomes]
rs73045955	0.93[EUR][1000 genomes]
rs73051630	0.93[EUR][1000 genomes]
rs73052447	0.84[EUR][1000 genomes]
rs73052449	0.84[EUR][1000 genomes]
rs73052454	0.84[EUR][1000 genomes]
rs73053768	0.95[EUR][1000 genomes]
rs73053785	0.94[EUR][1000 genomes]
rs73054354	0.87[EUR][1000 genomes]
rs73054361	0.87[EUR][1000 genomes]
rs73054364	0.88[EUR][1000 genomes]
rs7306087	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486983	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7962655	0.83[ASN][1000 genomes]
rs7978300	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
6	nsv898779	chr12:11134701-11174276	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv21271	chr12:11142157-11169458	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv8289	chr12:11144397-11222359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv898780	chr12:11144994-11251560	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3503763	chr12:11161162-11275828	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3503774	chr12:11161325-11275786	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1038709	chr12:11165117-11283834	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv8805	chr12:11166558-11222811	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3383115	chr12:11166848-11222150	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv1804289	chr12:11166879-11294110	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv7343	chr12:11167352-11223285	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2900577	TAS2R15	cis	Muscle Skeletal	GTEx
rs2900577	TAS2R48	Cis_1M	lymphoblastoid	RTeQTL
rs2900577	TAS2R14	cis	Thyroid	GTEx
rs2900577	TAS2R20	cis	lung	GTEx
rs2900577	TAS2R14	cis	Artery Tibial	GTEx
rs2900577	TAS2R15	cis	Artery Tibial	GTEx
rs2900577	PRR4	cis	Artery Tibial	GTEx
rs2900577	TAS2R45	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
4	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
8	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:11147000-11168400	Weak transcription	Liver	Liver
11	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
12	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:11147200-11168600	Weak transcription	Spleen	Spleen
14	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
17	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
18	chr12:11148400-11178200	Weak transcription	Dnd41	blood
19	chr12:11149000-11168600	Weak transcription	Left Ventricle	heart
20	chr12:11154000-11169000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:11154200-11168000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:11154200-11174200	Weak transcription	Primary B cells from cord blood	blood
23	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:11154200-11178200	Weak transcription	A549	lung
25	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:11154400-11168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:11159400-11168600	Weak transcription	Gastric	stomach
28	chr12:11159400-11182000	Weak transcription	NHEK	skin
29	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
32	chr12:11162400-11172800	Weak transcription	Fetal Brain Female	brain
33	chr12:11162600-11167800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
36	chr12:11163600-11178800	Weak transcription	Ovary	ovary
37	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
39	chr12:11164600-11168200	Weak transcription	Stomach Mucosa	stomach
40	chr12:11164800-11171800	Weak transcription	Lung	lung
41	chr12:11165000-11170000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:11165000-11180800	Weak transcription	HSMM	muscle
43	chr12:11165200-11170800	Enhancers	Brain Substantia Nigra	brain
44	chr12:11165400-11180200	Weak transcription	Esophagus	oesophagus
45	chr12:11165600-11174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:11166400-11168600	Enhancers	HepG2	liver
49	chr12:11166400-11170600	Enhancers	Brain Hippocampus Middle	brain
50	chr12:11166400-11170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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