Variant report

Variant	rs12938640
Chromosome Location	chr17:46465576-46465577
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46462185..46466645-chr17:46467369..46472149,5	K562	blood:
2	chr17:46463272..46465978-chr17:46700470..46702463,2	K562	blood:
3	chr17:46465145..46467421-chr17:46468565..46471661,3	K562	blood:
4	chr17:46461397..46463215-chr17:46464686..46466654,3	K562	blood:
5	chr17:46450687..46453048-chr17:46465448..46467594,2	K562	blood:
6	chr17:46463565..46466806-chr17:46694501..46697815,3	K562	blood:
7	chr17:46464628..46466806-chr17:46694501..46697277,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs11079818	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11655672	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12150117	0.93[ASN][1000 genomes]
rs12449653	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450014	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450081	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450786	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12450935	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12451412	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12452212	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12452234	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12453208	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12937965	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12938032	0.87[ASN][1000 genomes]
rs12939680	0.93[ASN][1000 genomes]
rs12940162	0.93[ASN][1000 genomes]
rs12940365	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12941877	0.93[ASN][1000 genomes]
rs12941926	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12943082	0.84[ASN][1000 genomes]
rs12944592	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12946636	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12948017	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12948086	0.90[ASN][1000 genomes]
rs12948128	0.88[ASN][1000 genomes]
rs12950325	0.84[ASN][1000 genomes]
rs12952824	0.88[ASN][1000 genomes]
rs12953245	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1553749	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553751	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553752	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553753	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16955397	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17621199	0.84[ASN][1000 genomes]
rs17621297	0.84[ASN][1000 genomes]
rs17621707	0.88[ASN][1000 genomes]
rs17623154	0.90[ASN][1000 genomes]
rs17623482	0.91[ASN][1000 genomes]
rs17694192	0.82[ASN][1000 genomes]
rs17694895	0.88[ASN][1000 genomes]
rs17696503	0.93[ASN][1000 genomes]
rs17696640	0.93[ASN][1000 genomes]
rs1912153	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1912154	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2056458	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2084881	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2175158	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34466582	0.93[ASN][1000 genomes]
rs35003027	0.93[ASN][1000 genomes]
rs35509644	0.90[ASN][1000 genomes]
rs35533148	0.90[ASN][1000 genomes]
rs35759756	0.93[ASN][1000 genomes]
rs4128439	0.88[ASN][1000 genomes]
rs4131712	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4261589	0.94[EUR][1000 genomes]
rs4312351	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4451990	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4556829	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5000249	0.94[EUR][1000 genomes]
rs56146024	0.90[ASN][1000 genomes]
rs62064554	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62067799	0.87[ASN][1000 genomes]
rs6504145	0.82[ASN][1000 genomes]
rs6504158	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6504172	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504203	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206951	0.90[ASN][1000 genomes]
rs7207826	0.95[EUR][1000 genomes]
rs7207928	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7209043	0.95[EUR][1000 genomes]
rs7209522	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7209855	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7210445	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7210708	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7211607	0.81[ASN][1000 genomes]
rs7212149	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7212930	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7213513	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7214589	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7215143	0.88[ASN][1000 genomes]
rs7216971	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7217025	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7217120	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7218345	0.92[EUR][1000 genomes]
rs7218848	0.93[ASN][1000 genomes]
rs7219816	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7219985	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7221770	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7222452	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7224686	0.93[ASN][1000 genomes]
rs7225998	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8065385	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8067953	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8068128	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8068397	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8068623	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8069900	0.88[ASN][1000 genomes]
rs8072521	0.93[ASN][1000 genomes]
rs8073888	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8074212	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8074443	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8076655	0.88[ASN][1000 genomes]
rs8078038	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8078999	0.93[ASN][1000 genomes]
rs8082009	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9303542	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9747133	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890142	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890488	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9891073	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9891635	0.94[EUR][1000 genomes]
rs9894812	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9895123	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9895985	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9897162	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9897588	0.92[EUR][1000 genomes]
rs9898988	0.83[EUR][1000 genomes]
rs9899213	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9900511	0.94[EUR][1000 genomes]
rs9901279	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9905220	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9905961	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9906193	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9906651	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9907699	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9909002	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9909872	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9910535	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9916227	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12938640	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs12938640	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46438400-46471800	Weak transcription	Thymus	Thymus
2	chr17:46460400-46466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46460400-46471200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:46462000-46470400	Weak transcription	Fetal Thymus	thymus
5	chr17:46462200-46467000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:46462400-46474200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:46462800-46465600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr17:46463200-46469000	Enhancers	Fetal Brain Male	brain
9	chr17:46463200-46469400	Weak transcription	GM12878-XiMat	blood
10	chr17:46463400-46466800	Weak transcription	K562	blood
11	chr17:46463400-46472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:46463600-46471800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr17:46464200-46469600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:46464600-46466000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:46464800-46466200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:46465000-46465800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:46465000-46466400	Weak transcription	Primary T cells from cord blood	blood
18	chr17:46465000-46467000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:46465000-46467400	Weak transcription	Fetal Brain Female	brain
20	chr17:46465000-46472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:46465200-46465600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:46465400-46465800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr17:46465400-46466200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:46465400-46470200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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