Variant report

Variant	rs8072282
Chromosome Location	chr17:46276858-46276859
allele	A/G
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	ZNF263	chr17:46276485-46277247	HEK293-T-REx	kidney:	n/a	chr17:46276996-46277017 chr17:46277150-46277159
2	SPI1	chr17:46276601-46277010	HL-60	blood:	n/a	n/a
3	KAP1	chr17:46276124-46276949	U2OS	brain:	n/a	n/a
4	KAP1	chr17:46276094-46277169	HEK293	kidney:	n/a	n/a
5	SPI1	chr17:46276688-46276907	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-1152P	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1002330	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1010228	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10445339	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10445377	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853098	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11079806	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11079808	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11079814	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11651097	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs11870056	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11872095	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12150533	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452956	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12603115	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs12936369	0.82[ASN][1000 genomes]
rs12936731	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs12941830	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12947089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12948810	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12952670	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1316657	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1377201	0.87[ASW][hapmap];0.90[MKK][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1452662	0.84[ASN][1000 genomes]
rs1452663	0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1452665	0.85[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1452666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1452667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1468270	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs16951519	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs16953927	0.84[ASN][1000 genomes]
rs16953941	0.85[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs16954268	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs16954324	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs17620033	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17681336	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860862	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860863	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1979897	0.85[CHB][hapmap]
rs2021752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2021811	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051821	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2060876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072441	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs208005	0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs208008	0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs208009	0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs208011	0.82[ASN][1000 genomes]
rs208012	0.82[ASN][1000 genomes]
rs208015	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs208019	0.80[ASN][1000 genomes]
rs2109982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2109983	0.80[JPT][hapmap]
rs2109984	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2123341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2229369	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2240120	0.85[CHB][hapmap]
rs2240121	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2240122	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2278868	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305433	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];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325804	0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs2325885	0.84[ASN][1000 genomes]
rs2924257	0.90[CEU][hapmap];0.86[CHB][hapmap]
rs2938483	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34949267	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34980108	0.84[ASN][1000 genomes]
rs36071506	0.84[ASN][1000 genomes]
rs3744346	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs3792692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805363	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805371	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815472	0.80[ASN][1000 genomes]
rs3897986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3944039	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4793779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4794447	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4794451	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4794505	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794517	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794525	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55696440	0.82[ASN][1000 genomes]
rs55982346	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62066407	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62066447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504025	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs6504108	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs66683298	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67446770	0.82[EUR][1000 genomes]
rs6847	0.81[JPT][hapmap]
rs7210149	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7212202	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7213876	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217496	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7219967	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220619	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7220768	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220922	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7222136	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7223867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7224014	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7225435	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7225550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225865	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7501770	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs758999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8065670	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs8066391	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs8069064	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071199	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs8071879	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs8075270	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8077860	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs8079616	0.80[ASN][1000 genomes]
rs875065	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs882380	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954226	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs978263	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9899275	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs9899461	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs9903692	0.82[ASN][1000 genomes]
rs9909933	0.84[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8072282	SNX11	cis	parietal	SCAN
rs8072282	CDK5RAP3	cis	cerebellum	SCAN
rs8072282	AARSD1	cis	parietal	SCAN
rs8072282	CDK5RAP3	cis	parietal	SCAN
rs8072282	EIF1	cis	cerebellum	SCAN
rs8072282	CBX1	cis	cerebellum	SCAN
rs8072282	SNX11	cis	Lymphoblastoid	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46251200-46277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:46266800-46298600	Weak transcription	Thymus	Thymus
3	chr17:46266800-46318200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:46272200-46277000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:46273200-46293000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:46273200-46302800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:46273200-46314000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:46273600-46287200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:46273800-46278000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:46274000-46290000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:46274200-46283200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:46274200-46297200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:46274600-46277800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:46275000-46282600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:46275200-46287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:46275400-46286800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:46276000-46277000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:46276000-46277000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr17:46276000-46277000	Flanking Active TSS	A549	lung
20	chr17:46276000-46281400	Strong transcription	Primary T cells from cord blood	blood
21	chr17:46276200-46277000	Enhancers	Stomach Mucosa	stomach
22	chr17:46276200-46277000	Genic enhancers	GM12878-XiMat	blood
23	chr17:46276200-46277200	Enhancers	Liver	Liver
24	chr17:46276200-46277200	Enhancers	HUVEC	blood vessel
25	chr17:46276200-46277400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:46276400-46277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:46276400-46277000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr17:46276600-46277000	Enhancers	Fetal Intestine Small	intestine
29	chr17:46276800-46277000	Enhancers	Psoas Muscle	Psoas
30	chr17:46276800-46277200	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:46276800-46277200	Enhancers	Fetal Intestine Large	intestine
32	chr17:46276800-46277200	Enhancers	Fetal Kidney	kidney
33	chr17:46276800-46277200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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