Variant report

Variant	rs2306028
Chromosome Location	chr11:46900659-46900660
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46900186..46902625-chr11:46908336..46911301,2	K562	blood:

Variant related genes	Relation type
ENSG00000134569	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1007738	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10734548	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10734549	0.91[ASN][1000 genomes]
rs10742784	0.97[ASN][1000 genomes]
rs10769208	0.91[ASN][1000 genomes]
rs10769211	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10769212	0.99[ASN][1000 genomes]
rs10769226	0.82[MEX][hapmap]
rs10838612	0.82[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs10838620	0.91[ASN][1000 genomes]
rs10838624	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838627	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838628	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838629	0.92[ASN][1000 genomes]
rs11038977	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs11038994	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11038999	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039002	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039014	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11039017	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039018	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039024	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039035	0.82[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes]
rs11600292	0.81[MEX][hapmap]
rs11602036	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11606992	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12575609	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12806577	0.91[ASN][1000 genomes]
rs12807111	0.82[ASN][1000 genomes]
rs1551744	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs17790204	1.00[AFR][1000 genomes]
rs1809293	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2035068	0.86[ASN][1000 genomes]
rs2070850	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs2290883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290884	0.99[ASN][1000 genomes]
rs2306026	0.99[ASN][1000 genomes]
rs2306027	0.87[ASN][1000 genomes]
rs2306033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306035	0.85[ASN][1000 genomes]
rs2306036	0.82[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2306037	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2903522	0.80[ASN][1000 genomes]
rs3136441	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3136447	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3136457	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3136460	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3816614	0.99[ASN][1000 genomes]
rs3829940	0.98[ASN][1000 genomes]
rs4075619	0.91[ASN][1000 genomes]
rs4076557	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs4294527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4394802	0.81[JPT][hapmap]
rs4453193	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4453194	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4469848	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4494268	0.82[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes]
rs4534535	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4581406	0.95[MEX][hapmap]
rs4752927	0.86[GIH][hapmap];0.91[JPT][hapmap]
rs4752932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs4752933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752936	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752940	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752941	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58389391	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5896	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs60258676	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485692	0.87[ASN][1000 genomes]
rs6485695	0.91[ASN][1000 genomes]
rs7101374	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7107778	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7109707	0.91[ASN][1000 genomes]
rs7118170	0.87[ASN][1000 genomes]
rs7119247	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7480140	0.95[ASN][1000 genomes]
rs7480260	0.94[ASN][1000 genomes]
rs7929294	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7934421	0.95[ASN][1000 genomes]
rs7940441	0.82[JPT][hapmap]
rs7940578	0.88[ASN][1000 genomes]
rs7940682	0.84[ASN][1000 genomes]
rs7941252	0.86[ASN][1000 genomes]
rs7941894	0.85[ASN][1000 genomes]
rs7941964	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943866	0.99[ASN][1000 genomes]
rs7950753	0.86[MEX][hapmap]
rs898604	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs964551	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2306028	KBTBD4	cis	cerebellum	SCAN
rs2306028	ACP2	cis	lymphoblastoid	seeQTL
rs2306028	PTPMT1	cis	parietal	SCAN
rs2306028	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46868000-46909000	Weak transcription	Small Intestine	intestine
2	chr11:46868600-46917400	Weak transcription	Fetal Brain Male	brain
3	chr11:46868800-46913000	Weak transcription	A549	lung
4	chr11:46875600-46917200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:46876000-46905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:46876600-46911400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:46876600-46916600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:46877400-46909200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:46877400-46909200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:46877400-46912000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:46877400-46912600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:46877600-46919000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:46877800-46912200	Strong transcription	Fetal Stomach	stomach
14	chr11:46877800-46912400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:46878000-46908200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:46878400-46909600	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:46878400-46922000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:46879000-46909000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:46879200-46901200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:46879800-46918200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:46880000-46901000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:46880800-46910800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:46883800-46904200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:46886000-46921800	Weak transcription	Hela-S3	cervix
25	chr11:46886200-46907000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:46887600-46918600	Weak transcription	NHDF-Ad	bronchial
27	chr11:46888200-46900800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:46888200-46901400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:46888600-46901200	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:46888800-46901000	Strong transcription	Brain Anterior Caudate	brain
31	chr11:46889400-46900800	Strong transcription	Left Ventricle	heart
32	chr11:46889400-46900800	Strong transcription	Ovary	ovary
33	chr11:46889400-46901800	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:46889400-46903600	Strong transcription	Brain Substantia Nigra	brain
35	chr11:46892000-46901000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr11:46892000-46901400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:46892400-46900800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:46892400-46901000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:46892400-46901200	Strong transcription	Placenta	Placenta
40	chr11:46892600-46901000	Strong transcription	Right Ventricle	heart
41	chr11:46892600-46906200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr11:46892800-46900800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:46892800-46901400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:46892800-46901600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:46892800-46902400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:46893200-46901000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:46893600-46901000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:46893800-46901400	Strong transcription	Fetal Brain Female	brain
49	chr11:46894400-46903600	Strong transcription	HSMMtube	muscle
50	chr11:46894600-46901000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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