Variant report

Variant	rs4388985
Chromosome Location	chr12:11150551-11150552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1013312	0.86[EUR][1000 genomes]
rs10732561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734843	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743929	0.86[EUR][1000 genomes]
rs10743930	0.86[EUR][1000 genomes]
rs10743936	0.88[EUR][1000 genomes]
rs10743937	0.80[AFR][1000 genomes]
rs10743938	0.93[AFR][1000 genomes]
rs10772371	0.86[EUR][1000 genomes]
rs10772392	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10772395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10772398	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772419	0.80[AFR][1000 genomes]
rs10772420	0.88[AFR][1000 genomes]
rs10845224	0.86[EUR][1000 genomes]
rs10845296	0.93[AFR][1000 genomes]
rs11054053	0.86[EUR][1000 genomes]
rs11054054	0.86[EUR][1000 genomes]
rs12313469	0.80[AFR][1000 genomes]
rs12371547	0.86[EUR][1000 genomes]
rs1376249	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463237	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520225	0.86[EUR][1000 genomes]
rs1607694	0.86[EUR][1000 genomes]
rs1650019	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs1669424	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs1669430	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs16925194	0.83[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	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs2110097	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2110098	0.83[EUR][1000 genomes]
rs2215716	0.84[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	0.86[EUR][1000 genomes]
rs2418215	0.86[EUR][1000 genomes]
rs2418218	0.84[EUR][1000 genomes]
rs2418223	0.86[AMR][1000 genomes];0.93[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	0.86[EUR][1000 genomes]
rs2900577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319269	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs319276	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3741843	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3911150	0.92[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap]
rs4281556	0.86[EUR][1000 genomes]
rs4288845	0.90[EUR][1000 genomes]
rs4763217	0.86[EUR][1000 genomes]
rs4763598	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55748583	0.92[EUR][1000 genomes]
rs55834906	0.83[EUR][1000 genomes]
rs55862154	0.92[EUR][1000 genomes]
rs56400996	0.85[ASN][1000 genomes]
rs61912077	0.81[AFR][1000 genomes]
rs6488331	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6488333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66679979	0.92[EUR][1000 genomes]
rs67336915	0.83[ASN][1000 genomes]
rs67458095	0.89[EUR][1000 genomes]
rs68071847	0.85[ASN][1000 genomes]
rs7297167	0.88[EUR][1000 genomes]
rs73045955	0.92[EUR][1000 genomes]
rs73051630	0.92[EUR][1000 genomes]
rs73052447	0.83[EUR][1000 genomes]
rs73052449	0.83[EUR][1000 genomes]
rs73052454	0.83[EUR][1000 genomes]
rs73053768	0.94[EUR][1000 genomes]
rs73053785	0.93[EUR][1000 genomes]
rs73054354	0.86[EUR][1000 genomes]
rs73054361	0.86[EUR][1000 genomes]
rs73054364	0.87[EUR][1000 genomes]
rs7306087	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315843	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486983	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7962655	0.83[ASN][1000 genomes]
rs7978300	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv898778	chr12:11108281-11165394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs4388985	TAS2R9	cis	parietal	SCAN
rs4388985	PRR4	cis	parietal	SCAN
rs4388985	TAS2R8	cis	parietal	SCAN
rs4388985	TAS2R43	cis	parietal	SCAN
rs4388985	TAS2R45	N/A	lymphoblastoid	RTeQTL
rs4388985	PRH1	cis	cerebellum	SCAN
rs4388985	TAS2R15	cis	Artery Tibial	GTEx
rs4388985	PRR4	cis	Artery Tibial	GTEx
rs4388985	GABARAPL1	cis	lymphoblastoid	seeQTL
rs4388985	TAS2R14	cis	Thyroid	GTEx
rs4388985	PRR4	cis	lymphoblastoid	seeQTL
rs4388985	TAS2R10	cis	parietal	SCAN
rs4388985	TAS2R48	Cis_1M	lymphoblastoid	RTeQTL
rs4388985	TAS2R13	cis	cerebellum	SCAN
rs4388985	TAS2R14	cis	cerebellum	SCAN
rs4388985	TAS2R43	cis	cerebellum	SCAN
rs4388985	TAS2R15	cis	Muscle Skeletal	GTEx
rs4388985	TAS2R14	cis	Artery Tibial	GTEx
rs4388985	KLRB1	cis	cerebellum	SCAN
rs4388985	TAS2R20	cis	lung	GTEx

Chromatin state (count:55 , 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	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:11132000-11154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:11134800-11166800	Weak transcription	NHDF-Ad	bronchial
7	chr12:11135200-11162200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:11136600-11153600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
13	chr12:11140800-11152800	Weak transcription	Fetal Thymus	thymus
14	chr12:11142200-11151200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:11142200-11153400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:11143400-11151200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:11143400-11161000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:11143400-11167600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:11143600-11150600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:11143600-11153200	Weak transcription	Primary B cells from cord blood	blood
22	chr12:11143600-11153600	Weak transcription	A549	lung
23	chr12:11143600-11161000	Weak transcription	Fetal Kidney	kidney
24	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:11146200-11167400	Weak transcription	Fetal Intestine Large	intestine
26	chr12:11147000-11150800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:11147000-11151200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:11147000-11165200	Weak transcription	Esophagus	oesophagus
29	chr12:11147000-11166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:11147000-11168400	Weak transcription	Liver	Liver
31	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
32	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:11147200-11150600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:11147200-11150800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:11147200-11153200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:11147200-11153200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:11147200-11153200	Weak transcription	Adipose Nuclei	Adipose
38	chr12:11147200-11153200	Weak transcription	Fetal Lung	lung
39	chr12:11147200-11153200	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:11147200-11153600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:11147200-11153600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:11147200-11154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:11147200-11154400	Weak transcription	Gastric	stomach
44	chr12:11147200-11168600	Weak transcription	Spleen	Spleen
45	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
48	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
49	chr12:11148400-11150800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:11148400-11178200	Weak transcription	Dnd41	blood

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