Variant report

Variant	rs4320587
Chromosome Location	chr8:66499226-66499227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10087361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10089029	0.97[ASN][1000 genomes]
rs10089708	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10092109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097461	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100131	0.84[AMR][1000 genomes]
rs10110985	0.81[ASN][1000 genomes]
rs1053085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053088	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10957361	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776709	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11776712	0.89[ASN][1000 genomes]
rs11985628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11990855	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12335006	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12335276	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543053	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544767	0.92[ASN][1000 genomes]
rs12677419	0.95[ASN][1000 genomes]
rs12678467	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13252358	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13266834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267942	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13268343	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13281155	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs14213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473601	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1533285	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16932245	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932250	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932314	0.91[ASN][1000 genomes]
rs1877638	0.92[ASN][1000 genomes]
rs2048650	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2102648	0.97[ASN][1000 genomes]
rs2175809	0.95[ASN][1000 genomes]
rs2175810	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357476	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28415299	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28576524	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28613797	0.97[ASN][1000 genomes]
rs2884199	0.81[AMR][1000 genomes]
rs3268	0.99[ASN][1000 genomes]
rs34226237	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34494846	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34533611	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34851482	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35038843	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35790435	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35941313	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750184	0.99[ASN][1000 genomes]
rs3765205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812412	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4275254	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4384016	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4384017	0.84[ASN][1000 genomes]
rs4388482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397444	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4637885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4637886	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737749	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5018458	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57419568	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60023200	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60058315	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6472210	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs6472213	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6472214	0.85[ASN][1000 genomes]
rs6472215	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472216	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472217	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472218	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66467166	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66486920	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67046768	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67131486	0.95[ASN][1000 genomes]
rs67685675	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985897	0.87[ASN][1000 genomes]
rs6985932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986691	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986866	0.84[AMR][1000 genomes]
rs6991731	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993876	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994213	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995242	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6997959	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006261	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006648	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007505	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011464	0.87[CHB][hapmap]
rs7012578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012856	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7016472	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs71930161	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73236948	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73236986	0.97[ASN][1000 genomes]
rs73239011	0.97[ASN][1000 genomes]
rs73239085	0.97[ASN][1000 genomes]
rs7459737	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464123	0.95[ASN][1000 genomes]
rs7464223	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812390	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812446	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7815488	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817112	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832407	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836746	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841652	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842162	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953593	0.87[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4320587	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx
rs4320587	CTD-3025N20.3	cis	lung	GTEx
rs4320587	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs4320587	CTD-3025N20.3	cis	Esophagus Mucosa	GTEx
rs4320587	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs4320587	ARMC1	cis	lymphoblastoid	seeQTL
rs4320587	ARMC1	cis	cerebellum	SCAN
rs4320587	CTD-3025N20.3	cis	Thyroid	GTEx
rs4320587	PDE7A	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66491400-66505800	Weak transcription	Fetal Stomach	stomach
2	chr8:66491800-66512000	Weak transcription	Spleen	Spleen
3	chr8:66492000-66521000	Weak transcription	Lung	lung
4	chr8:66495800-66516600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:66496400-66499400	Enhancers	Brain Hippocampus Middle	brain
6	chr8:66496400-66499400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:66496600-66499400	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:66497000-66499800	Enhancers	Placenta	Placenta
9	chr8:66497200-66505000	Weak transcription	Ovary	ovary
10	chr8:66497400-66499400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:66497600-66512000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:66498000-66499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:66498000-66516000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:66498400-66507000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:66498400-66512200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:66498600-66507000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:66498600-66516400	Weak transcription	Esophagus	oesophagus
18	chr8:66498800-66499800	Enhancers	Primary B cells from cord blood	blood
19	chr8:66498800-66499800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:66498800-66500000	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:66498800-66500000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr8:66498800-66500000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:66498800-66500000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:66498800-66500000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:66498800-66500200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:66498800-66500200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:66498800-66500200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:66498800-66500200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:66498800-66500800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:66498800-66507000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:66498800-66521000	Weak transcription	Aorta	Aorta
32	chr8:66499000-66499600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:66499000-66500000	Enhancers	Primary T cells from cord blood	blood
34	chr8:66499000-66500000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:66499000-66500000	Enhancers	GM12878-XiMat	blood
36	chr8:66499000-66500200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:66499000-66503400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:66499000-66507000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:66499000-66514800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:66499000-66521400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:66499200-66503200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:66499200-66511000	Weak transcription	Brain Substantia Nigra	brain
43	chr8:66499200-66514200	Weak transcription	Osteobl	bone
44	chr8:66499200-66515400	Weak transcription	Brain Anterior Caudate	brain
45	chr8:66499200-66516400	Weak transcription	Gastric	stomach
46	chr8:66499200-66519200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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