Variant report

Variant	rs11719726
Chromosome Location	chr3:56671733-56671734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56666260..56668466-chr3:56670162..56673215,3	K562	blood:

Variant related genes	Relation type
ENSG00000163946	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10222629	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1054092	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1054093	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130525	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130526	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130527	0.92[EUR][1000 genomes]
rs11130542	0.80[EUR][1000 genomes]
rs11712664	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11712799	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719707	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316647	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13317989	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1388256	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1565378	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17216685	0.84[ASN][1000 genomes]
rs17216747	0.87[ASN][1000 genomes]
rs17288852	0.83[ASN][1000 genomes]
rs1812347	0.92[EUR][1000 genomes]
rs1873256	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291498	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291500	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317132	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282525	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282530	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282531	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282542	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3172355	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3732505	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3732513	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4681726	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681736	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4681738	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4681739	0.81[AMR][1000 genomes]
rs4681903	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4681904	0.91[ASN][1000 genomes]
rs4681937	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681955	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682001	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682002	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682008	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4974221	0.83[ASN][1000 genomes]
rs4974223	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4974225	0.88[EUR][1000 genomes]
rs55742226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55828519	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56028632	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56172256	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56263252	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356916	0.83[ASN][1000 genomes]
rs62251234	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62255964	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6445811	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445812	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6764730	0.92[EUR][1000 genomes]
rs6767903	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6794450	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799086	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72624856	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7612464	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620896	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7628343	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7633478	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7640995	0.81[AFR][1000 genomes]
rs7641898	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7645941	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7647095	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7648297	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7649872	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873840	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9311609	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311612	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs953540	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809117	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9809741	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9816100	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816265	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819952	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9826788	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9830377	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9834239	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9835134	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9841851	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9847362	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861577	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9864701	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867302	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868059	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871265	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872059	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9881152	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9883842	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11719726	CCDC66	cis	Whole Blood	GTEx
rs11719726	CCDC66	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56640800-56695400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:56642800-56713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:56644400-56686400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:56644800-56708200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:56645400-56705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:56646800-56673600	Weak transcription	Right Ventricle	heart
7	chr3:56647000-56672200	Weak transcription	Gastric	stomach
8	chr3:56647400-56707400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:56647400-56707800	Strong transcription	Fetal Thymus	thymus
10	chr3:56651400-56702000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:56652800-56701400	Weak transcription	Psoas Muscle	Psoas
12	chr3:56656200-56683000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:56657400-56683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:56657600-56675800	Strong transcription	Fetal Muscle Leg	muscle
15	chr3:56657800-56678000	Weak transcription	Fetal Brain Male	brain
16	chr3:56659000-56673000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:56659400-56676200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:56661400-56710600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:56661800-56674800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:56662200-56672800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:56662400-56672800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:56664000-56688000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:56664000-56694800	Weak transcription	Stomach Mucosa	stomach
24	chr3:56664800-56687400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:56664800-56711000	Strong transcription	Dnd41	blood
26	chr3:56665000-56687800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:56665000-56690400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:56665000-56707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:56665200-56686600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:56665200-56691800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:56665200-56698800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr3:56665200-56707200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:56665400-56675200	Weak transcription	Pancreas	Pancrea
34	chr3:56665400-56683200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:56665400-56687000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:56665600-56676200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:56665800-56687400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:56665800-56687400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:56666000-56675800	Strong transcription	Primary T cells from cord blood	blood
40	chr3:56666000-56686800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:56666200-56708000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:56666600-56675600	Strong transcription	Hela-S3	cervix
43	chr3:56666600-56676600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:56666800-56672000	Strong transcription	GM12878-XiMat	blood
45	chr3:56666800-56675800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:56666800-56675800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:56667000-56675200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:56667000-56684400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:56667600-56672800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:56667800-56672600	Weak transcription	Brain Germinal Matrix	brain

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