Variant report

Variant	rs8072521
Chromosome Location	chr17:46429622-46429623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46427777..46429961-chr17:46658549..46660906,2	K562	blood:
2	chr17:46428950..46429653-chr17:46451696..46452878,4	MCF-7	breast:
3	chr17:46429252..46429853-chr17:46671324..46671880,2	K562	blood:
4	chr17:46428798..46429820-chr17:46662269..46663364,6	MCF-7	breast:
5	chr17:46427006..46429722-chr17:46617606..46619313,2	K562	blood:
6	chr17:46429106..46429774-chr17:46695690..46696224,2	K562	blood:
7	chr17:46429020..46429829-chr17:46451521..46452721,3	MCF-7	breast:
8	chr17:46429031..46429886-chr17:46695607..46696541,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120093	Chromatin interaction
ENSG00000257178	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs11079818	0.96[ASN][1000 genomes]
rs11655672	0.96[ASN][1000 genomes]
rs12150117	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449653	0.94[ASN][1000 genomes]
rs12450014	0.94[ASN][1000 genomes]
rs12450081	0.94[ASN][1000 genomes]
rs12450786	0.94[ASN][1000 genomes]
rs12450935	0.96[ASN][1000 genomes]
rs12451412	0.96[ASN][1000 genomes]
rs12452212	0.94[ASN][1000 genomes]
rs12452234	0.94[ASN][1000 genomes]
rs12453208	0.89[ASN][1000 genomes]
rs12937965	0.91[ASN][1000 genomes]
rs12938032	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12938640	0.93[ASN][1000 genomes]
rs12939680	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940162	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940365	0.94[ASN][1000 genomes]
rs12940931	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12941754	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12941877	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941926	0.91[ASN][1000 genomes]
rs12943082	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12944592	0.96[ASN][1000 genomes]
rs12945429	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12945780	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12946636	0.94[ASN][1000 genomes]
rs12948017	0.96[ASN][1000 genomes]
rs12948086	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12948128	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12950325	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12952824	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12953245	0.94[ASN][1000 genomes]
rs1396870	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1533057	0.92[EUR][1000 genomes]
rs1553749	0.96[ASN][1000 genomes]
rs1553751	0.96[ASN][1000 genomes]
rs1553752	0.96[ASN][1000 genomes]
rs1553753	0.96[ASN][1000 genomes]
rs16955397	0.94[ASN][1000 genomes]
rs17621199	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17621297	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17621707	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17623154	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17623482	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17694192	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17694895	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17696503	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696640	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912153	0.96[ASN][1000 genomes]
rs1912154	0.96[ASN][1000 genomes]
rs2056458	0.96[ASN][1000 genomes]
rs2084881	0.91[ASN][1000 genomes]
rs2175158	0.94[ASN][1000 genomes]
rs34466582	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34771639	0.91[EUR][1000 genomes]
rs34791545	0.83[EUR][1000 genomes]
rs35003027	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35387091	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35509644	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35533148	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35680046	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35713035	0.81[EUR][1000 genomes]
rs35759756	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767434	0.91[EUR][1000 genomes]
rs36057069	0.86[EUR][1000 genomes]
rs4128439	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131712	0.94[ASN][1000 genomes]
rs4312351	0.91[ASN][1000 genomes]
rs4451990	0.94[ASN][1000 genomes]
rs4556829	0.91[ASN][1000 genomes]
rs4793846	0.91[EUR][1000 genomes]
rs55682156	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56146024	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56385452	0.80[EUR][1000 genomes]
rs56655886	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62064554	0.94[ASN][1000 genomes]
rs62067799	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504135	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6504145	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6504158	0.89[ASN][1000 genomes]
rs6504172	0.94[ASN][1000 genomes]
rs6504203	0.96[ASN][1000 genomes]
rs6504257	0.91[EUR][1000 genomes]
rs66529852	0.92[EUR][1000 genomes]
rs7206951	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207928	0.94[ASN][1000 genomes]
rs7209522	0.96[ASN][1000 genomes]
rs7209855	0.94[ASN][1000 genomes]
rs7210445	0.94[ASN][1000 genomes]
rs7210708	0.96[ASN][1000 genomes]
rs7211607	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7211712	0.95[EUR][1000 genomes]
rs7212149	0.94[ASN][1000 genomes]
rs7212930	0.91[ASN][1000 genomes]
rs7213513	0.94[ASN][1000 genomes]
rs7214269	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7214589	0.94[ASN][1000 genomes]
rs7215143	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7216971	0.96[ASN][1000 genomes]
rs7217025	0.96[ASN][1000 genomes]
rs7217120	0.94[ASN][1000 genomes]
rs7218217	0.95[EUR][1000 genomes]
rs7218848	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219816	0.94[ASN][1000 genomes]
rs7219985	0.91[ASN][1000 genomes]
rs7220387	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7221770	0.94[ASN][1000 genomes]
rs7222452	0.91[ASN][1000 genomes]
rs7222593	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7224686	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225998	0.91[ASN][1000 genomes]
rs8065115	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8065385	0.91[ASN][1000 genomes]
rs8067857	0.85[EUR][1000 genomes]
rs8067953	0.96[ASN][1000 genomes]
rs8068128	0.94[ASN][1000 genomes]
rs8068397	0.91[ASN][1000 genomes]
rs8068623	0.94[ASN][1000 genomes]
rs8069900	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8072770	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs8073466	0.95[EUR][1000 genomes]
rs8073888	0.96[ASN][1000 genomes]
rs8074054	0.86[EUR][1000 genomes]
rs8074212	0.91[ASN][1000 genomes]
rs8074443	0.96[ASN][1000 genomes]
rs8076655	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8078038	0.96[ASN][1000 genomes]
rs8078999	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081754	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8082009	0.91[ASN][1000 genomes]
rs9303542	0.94[ASN][1000 genomes]
rs9747133	0.94[ASN][1000 genomes]
rs9890142	0.94[ASN][1000 genomes]
rs9890488	0.94[ASN][1000 genomes]
rs9891073	0.96[ASN][1000 genomes]
rs9894812	0.94[ASN][1000 genomes]
rs9895123	0.90[ASN][1000 genomes]
rs9895985	0.90[ASN][1000 genomes]
rs9897162	0.96[ASN][1000 genomes]
rs9899213	0.91[ASN][1000 genomes]
rs9901279	0.91[ASN][1000 genomes]
rs9905220	0.90[ASN][1000 genomes]
rs9905961	0.91[ASN][1000 genomes]
rs9906193	0.91[ASN][1000 genomes]
rs9906651	0.96[ASN][1000 genomes]
rs9907699	0.96[ASN][1000 genomes]
rs9909002	0.96[ASN][1000 genomes]
rs9909872	0.91[ASN][1000 genomes]
rs9910535	0.91[ASN][1000 genomes]
rs9916227	0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8072521	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46414600-46450400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:46423400-46441800	Weak transcription	GM12878-XiMat	blood
3	chr17:46423400-46451200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:46423600-46438200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr17:46423600-46443400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:46423600-46453800	Weak transcription	Fetal Thymus	thymus
7	chr17:46423800-46439200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:46426400-46435600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr17:46427200-46442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:46427400-46440600	Weak transcription	Primary T cells from cord blood	blood
11	chr17:46428600-46429800	Bivalent Enhancer	Fetal Lung	lung
12	chr17:46429000-46430000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:46429200-46429800	Bivalent Enhancer	Fetal Heart	heart
14	chr17:46429200-46430200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:46429400-46429800	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:46429400-46429800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:46429400-46429800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:46429400-46429800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr17:46429400-46429800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr17:46429400-46429800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr17:46429400-46429800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:46429400-46429800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:46429400-46429800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr17:46429400-46429800	Enhancers	HSMMtube	muscle
25	chr17:46429400-46429800	Enhancers	NH-A	brain
26	chr17:46429400-46429800	Enhancers	NHDF-Ad	bronchial
27	chr17:46429400-46430000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr17:46429400-46430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:46429400-46430400	Enhancers	HSMM	muscle
30	chr17:46429600-46430000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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