Variant report

Variant	rs11776709
Chromosome Location	chr8:66528657-66528658
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	chr8:66521490..66523695-chr8:66527436..66529828,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10087361	0.90[ASN][1000 genomes]
rs10089029	0.90[ASN][1000 genomes]
rs10089708	0.80[ASN][1000 genomes]
rs10092109	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10097461	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10100131	0.82[AMR][1000 genomes]
rs1053085	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1053087	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1053088	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957361	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11776712	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11985628	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11990855	0.90[ASN][1000 genomes]
rs12335006	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12335276	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12543053	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12544767	0.85[ASN][1000 genomes]
rs12677419	0.88[ASN][1000 genomes]
rs12678467	0.89[ASN][1000 genomes]
rs13252358	0.84[AMR][1000 genomes]
rs13266834	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13267942	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13281155	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs14213	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1473601	0.90[ASN][1000 genomes]
rs1533285	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16932245	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932250	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932314	0.84[ASN][1000 genomes]
rs1877638	0.85[ASN][1000 genomes]
rs2048650	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2102648	0.88[ASN][1000 genomes]
rs2175809	0.88[ASN][1000 genomes]
rs2175810	0.80[ASN][1000 genomes]
rs2357476	0.81[AMR][1000 genomes]
rs28415299	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28576524	0.88[ASN][1000 genomes]
rs28613797	0.90[ASN][1000 genomes]
rs3268	0.90[ASN][1000 genomes]
rs34226237	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34494846	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34533611	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34851482	0.89[ASN][1000 genomes]
rs35038843	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35790435	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35941313	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3750184	0.90[ASN][1000 genomes]
rs3765205	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812412	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4275254	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4320587	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4384016	0.84[AMR][1000 genomes]
rs4388482	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4397444	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4637885	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4637886	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4737222	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4737747	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737748	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737749	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4737750	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5018458	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57419568	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60023200	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60058315	0.90[ASN][1000 genomes]
rs6472213	0.90[ASN][1000 genomes]
rs6472215	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6472216	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6472217	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6472218	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs66467166	0.81[AMR][1000 genomes]
rs66486920	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67046768	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67131486	0.90[ASN][1000 genomes]
rs67685675	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6985897	0.80[ASN][1000 genomes]
rs6985932	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6986691	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6986866	0.84[AMR][1000 genomes]
rs6991731	0.80[ASN][1000 genomes]
rs6993876	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6994213	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6995242	0.90[ASN][1000 genomes]
rs6997959	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7006261	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7006648	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7007505	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7012578	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7012856	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7016472	0.90[ASN][1000 genomes]
rs71930161	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73236948	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73236986	0.90[ASN][1000 genomes]
rs73239011	0.90[ASN][1000 genomes]
rs73239085	0.89[ASN][1000 genomes]
rs7459737	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464123	0.84[ASN][1000 genomes]
rs7464223	0.87[ASN][1000 genomes]
rs7812390	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812446	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814841	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7815488	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7817112	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7823840	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832407	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7835313	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7836349	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7836746	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7841652	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7842162	0.80[ASN][1000 genomes]
rs7846527	0.87[AMR][1000 genomes];0.88[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11776709	CTD-3025N20.3	cis	Thyroid	GTEx
rs11776709	CTD-3025N20.3	cis	lung	GTEx
rs11776709	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs11776709	CTD-3025N20.3	cis	Nerve Tibial	GTEx
rs11776709	CTD-3025N20.3	cis	Adipose Subcutaneous	GTEx
rs11776709	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx
rs11776709	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	chr8:66514200-66528800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:66514200-66528800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:66514800-66528800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:66516400-66528800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:66517000-66533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
12	chr8:66517200-66532200	Weak transcription	Esophagus	oesophagus
13	chr8:66517200-66533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:66517400-66529800	Weak transcription	Hela-S3	cervix
16	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:66519000-66528800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
19	chr8:66520000-66531600	Weak transcription	K562	blood
20	chr8:66520000-66545000	Weak transcription	NHEK	skin
21	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:66521600-66533200	Weak transcription	HMEC	breast
23	chr8:66522000-66531000	Weak transcription	Aorta	Aorta
24	chr8:66522200-66535200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:66522400-66531600	Weak transcription	Colonic Mucosa	Colon
26	chr8:66522600-66531400	Weak transcription	Right Ventricle	heart
27	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:66523600-66531200	Weak transcription	HepG2	liver
29	chr8:66524800-66530800	Weak transcription	A549	lung
30	chr8:66524800-66538400	Weak transcription	Psoas Muscle	Psoas
31	chr8:66525000-66530600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:66525000-66531000	Weak transcription	HSMMtube	muscle
33	chr8:66525000-66531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:66525000-66531200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:66525000-66531200	Weak transcription	Spleen	Spleen
36	chr8:66525600-66529200	Weak transcription	Thymus	Thymus
37	chr8:66525600-66529800	Weak transcription	Fetal Brain Female	brain
38	chr8:66525600-66529800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:66525600-66531200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:66525600-66531600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:66525600-66533000	Weak transcription	Primary B cells from cord blood	blood
42	chr8:66525600-66533800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:66525600-66533800	Weak transcription	Pancreas	Pancrea
44	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
45	chr8:66525800-66530000	Weak transcription	Osteobl	bone
46	chr8:66525800-66530800	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:66525800-66531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:66526000-66529800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:66526000-66530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:66526000-66531000	Weak transcription	Brain Hippocampus Middle	brain

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