Variant report

Variant	rs1508815
Chromosome Location	chr5:41830920-41830921
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	chr5:41824826..41827644-chr5:41828190..41831158,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10941559	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11738517	0.94[EUR][1000 genomes]
rs11739106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11739257	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11740524	0.96[EUR][1000 genomes]
rs11740946	1.00[EUR][1000 genomes]
rs11742249	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11744279	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11744516	1.00[EUR][1000 genomes]
rs11744623	0.97[EUR][1000 genomes]
rs11746511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11747881	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11747921	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11749008	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11750607	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs11750760	0.93[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11750790	0.86[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12186512	1.00[YRI][hapmap]
rs13153468	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13153837	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13155013	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13155338	0.85[EUR][1000 genomes]
rs13156367	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13162040	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13163137	1.00[EUR][1000 genomes]
rs13164201	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13165731	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13167578	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13168035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13169285	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13169977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13170096	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13176368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13177937	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13179852	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13180405	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13180475	0.86[EUR][1000 genomes]
rs13182336	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13185973	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13186086	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs13189403	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1345781	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1389756	0.86[EUR][1000 genomes]
rs1508818	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs16871955	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871972	0.99[EUR][1000 genomes]
rs16900142	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1876653	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1876654	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2081102	0.86[EUR][1000 genomes]
rs33967331	1.00[EUR][1000 genomes]
rs34048302	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34071445	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34193394	0.85[EUR][1000 genomes]
rs34329864	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34339137	1.00[EUR][1000 genomes]
rs34369972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34412181	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34500930	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34569700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34625465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34663371	1.00[EUR][1000 genomes]
rs34841703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34873414	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34898214	0.85[EUR][1000 genomes]
rs35077044	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs35244816	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35252930	1.00[EUR][1000 genomes]
rs35343042	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35613904	0.97[EUR][1000 genomes]
rs35691805	0.85[EUR][1000 genomes]
rs35748945	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35764180	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35861205	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36005620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36009913	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36113900	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3926618	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4957430	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs55817686	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56017638	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60209308	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62360521	0.85[EUR][1000 genomes]
rs62360542	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66820325	0.99[EUR][1000 genomes]
rs67114999	1.00[EUR][1000 genomes]
rs67206815	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67715253	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67869805	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6865448	0.89[AMR][1000 genomes]
rs6866549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879341	1.00[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881206	0.85[EUR][1000 genomes]
rs6881873	0.99[EUR][1000 genomes]
rs6883144	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6888816	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6889217	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs72746918	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72746919	0.99[EUR][1000 genomes]
rs72746957	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709500	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7712911	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7724934	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7725264	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs951883	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9687619	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9763018	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1508815	OXCT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:41795400-41835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:41800800-41838600	Weak transcription	Fetal Stomach	stomach
4	chr5:41801000-41835800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:41801000-41849200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:41801200-41849200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:41801200-41849200	Weak transcription	Fetal Brain Male	brain
8	chr5:41804800-41831400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:41807400-41831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:41807400-41831600	Weak transcription	Thymus	Thymus
11	chr5:41807400-41832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:41807600-41832000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:41808800-41831000	Weak transcription	Fetal Thymus	thymus
14	chr5:41808800-41831400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:41809000-41832000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:41809800-41836200	Weak transcription	Right Ventricle	heart
17	chr5:41814000-41842200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:41816000-41831200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:41816200-41831800	Weak transcription	Ovary	ovary
20	chr5:41816200-41838600	Weak transcription	NHEK	skin
21	chr5:41816400-41831400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:41816600-41831600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:41816800-41831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:41817000-41836000	Weak transcription	Aorta	Aorta
25	chr5:41818400-41832000	Weak transcription	Fetal Intestine Large	intestine
26	chr5:41818400-41852000	Weak transcription	Small Intestine	intestine
27	chr5:41819000-41831400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:41819000-41831800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:41819200-41852800	Weak transcription	Pancreas	Pancrea
30	chr5:41821400-41832000	Weak transcription	Esophagus	oesophagus
31	chr5:41822000-41831000	Weak transcription	HUVEC	blood vessel
32	chr5:41822600-41836000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:41822600-41836000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:41822600-41849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:41823400-41831600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:41823600-41832200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:41823800-41832000	Weak transcription	Left Ventricle	heart
38	chr5:41824200-41831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:41824200-41831800	Weak transcription	Brain Angular Gyrus	brain
40	chr5:41824400-41835800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:41824600-41835800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:41824600-41859400	Weak transcription	Spleen	Spleen
43	chr5:41824800-41831200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:41825400-41831600	Weak transcription	Fetal Kidney	kidney
45	chr5:41825800-41831200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:41825800-41831800	Weak transcription	HSMMtube	muscle
47	chr5:41825800-41835800	Weak transcription	Brain Substantia Nigra	brain
48	chr5:41825800-41849200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:41826600-41835600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:41826800-41833600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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