Variant report

Variant	rs10222629
Chromosome Location	chr3:56662727-56662728
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:56648967-56664047	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56589716..56592620-chr3:56662133..56663652,2	K562	blood:
2	chr3:56588808..56592620-chr3:56662133..56663692,3	K562	blood:

Variant related genes	Relation type
FAM208A	TF binding region
ENSG00000180376	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1054092	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1054093	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130525	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130526	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130527	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11712664	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11712799	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719707	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719726	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316647	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13317989	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1388256	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1565378	0.82[AMR][1000 genomes];0.91[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	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1873256	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317132	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282525	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282530	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282531	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs282542	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3172355	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732505	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4681726	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681736	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4681738	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4681903	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4681904	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4681937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681955	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682001	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4974221	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4974223	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4974225	0.91[EUR][1000 genomes]
rs55742226	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55828519	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56028632	0.82[ASN][1000 genomes]
rs56172256	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56263252	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356916	0.83[ASN][1000 genomes]
rs62251234	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62255964	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6445811	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445812	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6764730	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6767903	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6794450	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799086	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7612464	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620896	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7628343	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7633478	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7641898	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7645941	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7647095	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7648297	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7649872	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873840	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9311609	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311612	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs953540	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809117	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9809741	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9816100	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816265	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819952	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9826788	0.98[ASN][1000 genomes]
rs9830377	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9834239	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9835134	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9841851	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9847362	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861577	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9864701	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867302	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868059	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871265	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872059	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9881152	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9883842	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10222629	CCDC66	Cis_1M	lymphoblastoid	RTeQTL
rs10222629	CCDC66	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56640800-56664200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:56640800-56695400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:56642800-56713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:56644200-56664000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:56644400-56686400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:56644600-56665600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:56644600-56668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:56644800-56669800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:56644800-56708200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:56645400-56667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:56645400-56705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:56645600-56664800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:56645600-56665800	Strong transcription	Hela-S3	cervix
14	chr3:56645800-56663800	Strong transcription	HSMM	muscle
15	chr3:56646000-56662800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:56646600-56669000	Weak transcription	Small Intestine	intestine
17	chr3:56646800-56673600	Weak transcription	Right Ventricle	heart
18	chr3:56647000-56663000	Strong transcription	Liver	Liver
19	chr3:56647000-56664000	Strong transcription	Adipose Nuclei	Adipose
20	chr3:56647000-56666800	Weak transcription	Lung	lung
21	chr3:56647000-56672200	Weak transcription	Gastric	stomach
22	chr3:56647200-56664000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:56647200-56664000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr3:56647400-56663800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:56647400-56664000	Strong transcription	Primary T cells from cord blood	blood
26	chr3:56647400-56664200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:56647400-56664400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:56647400-56707400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:56647400-56707800	Strong transcription	Fetal Thymus	thymus
30	chr3:56647600-56663400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:56647600-56663600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr3:56647600-56664200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:56647800-56668400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:56648000-56662800	Weak transcription	Pancreas	Pancrea
35	chr3:56648800-56663400	Weak transcription	Aorta	Aorta
36	chr3:56649000-56664000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:56649800-56664200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:56650000-56664000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:56650200-56664000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:56650200-56664000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr3:56650600-56664000	Strong transcription	Dnd41	blood
42	chr3:56651000-56663600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:56651000-56663600	Strong transcription	Placenta	Placenta
44	chr3:56651400-56702000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:56651600-56663800	Strong transcription	Primary B cells from cord blood	blood
46	chr3:56652800-56701400	Weak transcription	Psoas Muscle	Psoas
47	chr3:56653200-56663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:56653400-56664000	Strong transcription	Fetal Lung	lung
49	chr3:56654000-56666200	Weak transcription	Ovary	ovary
50	chr3:56654600-56666800	Weak transcription	Colonic Mucosa	Colon

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