Variant report

Variant	rs4637886
Chromosome Location	chr8:66531232-66531233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10087361	0.97[ASN][1000 genomes]
rs10089029	0.97[ASN][1000 genomes]
rs10089708	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10092109	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097461	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100131	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10110985	0.81[ASN][1000 genomes]
rs1053085	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1053087	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1053088	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957361	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776709	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11776712	0.91[ASN][1000 genomes]
rs11985628	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11990855	0.96[ASN][1000 genomes]
rs12335006	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12335276	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543053	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544767	0.92[ASN][1000 genomes]
rs12677419	0.95[ASN][1000 genomes]
rs12678467	0.97[ASN][1000 genomes]
rs13252358	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13266834	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267942	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13281155	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs14213	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473601	0.97[ASN][1000 genomes]
rs1533285	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16932245	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16932250	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16932314	0.91[ASN][1000 genomes]
rs1877638	0.92[ASN][1000 genomes]
rs2048650	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2102648	0.94[ASN][1000 genomes]
rs2175809	0.95[ASN][1000 genomes]
rs2175810	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357476	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28415299	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28576524	0.95[ASN][1000 genomes]
rs28613797	0.97[ASN][1000 genomes]
rs3268	0.96[ASN][1000 genomes]
rs34226237	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34494846	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34533611	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34851482	0.95[ASN][1000 genomes]
rs35038843	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35790435	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35941313	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750184	0.96[ASN][1000 genomes]
rs3765205	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812412	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4275254	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4320587	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4384016	0.85[AMR][1000 genomes]
rs4384017	0.82[ASN][1000 genomes]
rs4388482	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4397444	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4637885	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737222	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737747	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737748	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737749	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737750	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5018458	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57419568	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60023200	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60058315	0.96[ASN][1000 genomes]
rs6472213	0.96[ASN][1000 genomes]
rs6472214	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6472215	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472216	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472217	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472218	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66467166	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66486920	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67046768	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67131486	0.92[ASN][1000 genomes]
rs67685675	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6985897	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6985932	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986445	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6986691	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986866	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6991731	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993876	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994213	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6995242	0.96[ASN][1000 genomes]
rs6997959	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006261	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006648	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007505	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012578	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7012856	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7016472	0.96[ASN][1000 genomes]
rs71930161	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73236948	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73236986	0.97[ASN][1000 genomes]
rs73239011	0.97[ASN][1000 genomes]
rs73239085	0.97[ASN][1000 genomes]
rs7459737	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7464123	0.90[ASN][1000 genomes]
rs7464223	0.92[ASN][1000 genomes]
rs7812390	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812446	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7814841	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815488	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817112	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7823840	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832407	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835313	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836349	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7836746	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841652	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7842162	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846527	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4637886	CTD-3025N20.3	cis	lung	GTEx
rs4637886	CTD-3025N20.3	cis	Heart Left Ventricle	GTEx
rs4637886	CTD-3025N20.3	cis	Thyroid	GTEx
rs4637886	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx
rs4637886	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs4637886	CTD-3025N20.3	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
5	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:66517000-66533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
8	chr8:66517200-66532200	Weak transcription	Esophagus	oesophagus
9	chr8:66517200-66533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
13	chr8:66520000-66531600	Weak transcription	K562	blood
14	chr8:66520000-66545000	Weak transcription	NHEK	skin
15	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:66521600-66533200	Weak transcription	HMEC	breast
17	chr8:66522200-66535200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:66522400-66531600	Weak transcription	Colonic Mucosa	Colon
19	chr8:66522600-66531400	Weak transcription	Right Ventricle	heart
20	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:66524800-66538400	Weak transcription	Psoas Muscle	Psoas
22	chr8:66525600-66531600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:66525600-66533000	Weak transcription	Primary B cells from cord blood	blood
24	chr8:66525600-66533800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:66525600-66533800	Weak transcription	Pancreas	Pancrea
26	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
27	chr8:66525800-66531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:66526000-66533000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:66526000-66533200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:66526000-66537000	Weak transcription	Gastric	stomach
31	chr8:66526000-66539000	Weak transcription	NHLF	lung
32	chr8:66526400-66531600	Weak transcription	Fetal Lung	lung
33	chr8:66526600-66532800	Weak transcription	GM12878-XiMat	blood
34	chr8:66527200-66531400	Weak transcription	Brain Substantia Nigra	brain
35	chr8:66527400-66533200	Weak transcription	HSMM	muscle
36	chr8:66527600-66531400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:66527600-66532200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:66527600-66533000	Weak transcription	NH-A	brain
39	chr8:66527600-66535200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:66527600-66535600	Strong transcription	Lung	lung
41	chr8:66527600-66537400	Weak transcription	NHDF-Ad	bronchial
42	chr8:66527600-66539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:66528000-66531400	Weak transcription	Ovary	ovary
44	chr8:66528000-66535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:66528200-66531400	Weak transcription	HUVEC	blood vessel
46	chr8:66528400-66533000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:66529200-66535000	Strong transcription	Thymus	Thymus
48	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:66529600-66534800	Strong transcription	Brain Germinal Matrix	brain
50	chr8:66529600-66535000	Strong transcription	Stomach Smooth Muscle	stomach

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