Variant report

Variant	rs2703388
Chromosome Location	chr8:110582762-110582763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110580079..110582985-chr8:110591236..110593474,2	MCF-7	breast:
2	chr8:110582739..110585482-chr8:110585928..110589559,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10088258	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10088612	0.81[ASN][1000 genomes]
rs10088684	0.81[ASN][1000 genomes]
rs1009371	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10108943	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10111682	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1013482	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1026437	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1044230	0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs10505133	0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs13439318	0.81[ASN][1000 genomes]
rs13439864	0.90[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs1379361	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1379366	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1379367	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1457282	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1457288	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1457294	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1457295	0.85[CHB][hapmap]
rs1563578	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1563580	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs1617259	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1617350	0.81[ASN][1000 genomes]
rs1630134	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1630942	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1673383	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673384	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673386	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1673389	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673395	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673399	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1673409	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1673410	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1673411	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1673412	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs1673413	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1673415	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1673416	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1673419	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1673420	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs1673422	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1673426	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1673428	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1783140	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1783141	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1783147	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783148	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783153	0.80[CHB][hapmap]
rs1783154	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783157	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783158	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1783159	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783162	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783166	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783168	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1783169	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783170	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1783171	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs1783172	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1783173	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783174	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1892759	0.94[JPT][hapmap]
rs1892760	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2022934	0.86[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2022935	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2154658	0.94[JPT][hapmap]
rs2154660	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2236627	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2236628	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607624	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2607625	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2607627	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2607628	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2607629	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2607630	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2607631	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2607633	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2607635	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2703377	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs2703382	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703384	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2703386	0.86[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2703387	0.89[ASN][1000 genomes]
rs2703389	0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs2844231	0.80[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2844234	0.86[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844235	0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844236	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844254	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2844257	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2844258	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2844259	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2844260	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2844261	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3808380	0.83[JPT][hapmap]
rs4529437	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7006166	0.86[CHB][hapmap]
rs7011340	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7011803	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs730885	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs753995	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7818726	0.87[ASN][1000 genomes]
rs897840	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs897842	0.90[CHB][hapmap];0.89[JPT][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2703388	TRHR	cis	parietal	SCAN
rs2703388	SYBU	cis	parietal	SCAN
rs2703388	PKHD1L1	cis	lymphoblastoid	seeQTL
rs2703388	PKHD1L1	cis	multi-tissue	Pritchard
rs2703388	PKHD1L1	cis	Lymphoblastoid	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
2	chr8:110553800-110613000	Weak transcription	NHLF	lung
3	chr8:110554000-110583000	Weak transcription	HMEC	breast
4	chr8:110554000-110589200	Weak transcription	Psoas Muscle	Psoas
5	chr8:110558800-110587800	Weak transcription	Stomach Mucosa	stomach
6	chr8:110563000-110586800	Weak transcription	Spleen	Spleen
7	chr8:110564400-110587200	Weak transcription	Colonic Mucosa	Colon
8	chr8:110565800-110586800	Weak transcription	NHEK	skin
9	chr8:110567000-110593200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:110567800-110587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:110568000-110586800	Weak transcription	Gastric	stomach
12	chr8:110569400-110586600	Weak transcription	Fetal Heart	heart
13	chr8:110570400-110586600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:110570400-110586800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:110570400-110587000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:110570400-110593600	Weak transcription	Fetal Brain Male	brain
17	chr8:110570600-110583000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:110570600-110583000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:110570600-110586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:110571000-110583200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:110571000-110589200	Weak transcription	Hela-S3	cervix
22	chr8:110571000-110589200	Weak transcription	NH-A	brain
23	chr8:110571600-110591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:110571600-110592800	Weak transcription	Small Intestine	intestine
25	chr8:110571800-110586800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:110572000-110586800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:110572000-110586800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:110572000-110586800	Weak transcription	Pancreas	Pancrea
29	chr8:110572000-110587200	Weak transcription	Fetal Stomach	stomach
30	chr8:110572000-110589000	Weak transcription	Aorta	Aorta
31	chr8:110572800-110586600	Weak transcription	GM12878-XiMat	blood
32	chr8:110573000-110587200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:110573200-110583400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:110573200-110586800	Weak transcription	Fetal Brain Female	brain
35	chr8:110573200-110587800	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:110576000-110586800	Weak transcription	Ovary	ovary
37	chr8:110576200-110586800	Weak transcription	Fetal Intestine Large	intestine
38	chr8:110576200-110587200	Weak transcription	Right Ventricle	heart
39	chr8:110576200-110590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:110577000-110583000	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:110577000-110586200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:110577000-110586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:110577000-110586800	Weak transcription	HSMMtube	muscle
44	chr8:110577000-110587200	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:110577000-110589400	Weak transcription	K562	blood
46	chr8:110577200-110583000	Weak transcription	Brain Substantia Nigra	brain
47	chr8:110577200-110583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:110577200-110583600	Weak transcription	Fetal Kidney	kidney
49	chr8:110577200-110584400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:110577200-110587200	Weak transcription	Brain Inferior Temporal Lobe	brain

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