Variant report

Variant	rs8072002
Chromosome Location	chr17:46467812-46467813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46467729..46470192-chr17:46470642..46472241,2	K562	blood:
2	chr17:46466673..46468665-chr17:46514612..46517414,2	K562	blood:
3	chr17:46462185..46466645-chr17:46467369..46472149,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12603827	0.84[ASN][1000 genomes]
rs12937347	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396868	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1509635	0.87[JPT][hapmap]
rs1553750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123344	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2924250	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2924254	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2938470	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs3826397	0.94[YRI][hapmap]
rs4239201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4324172	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4423463	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4542696	0.82[AFR][1000 genomes]
rs4606751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504160	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6504210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7211099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7211780	0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs7212220	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7213149	0.89[ASN][1000 genomes]
rs7216202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7218287	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7218563	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221510	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8077516	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8077763	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303541	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs9797269	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9898383	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9906658	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8072002	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46438400-46471800	Weak transcription	Thymus	Thymus
2	chr17:46460400-46471200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:46462000-46470400	Weak transcription	Fetal Thymus	thymus
4	chr17:46462400-46474200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:46463200-46469000	Enhancers	Fetal Brain Male	brain
6	chr17:46463200-46469400	Weak transcription	GM12878-XiMat	blood
7	chr17:46463400-46472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:46463600-46471800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr17:46464200-46469600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46465000-46472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:46465400-46470200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr17:46465600-46471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:46465800-46470200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:46466000-46474600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr17:46466400-46468200	Strong transcription	Primary T cells from cord blood	blood
16	chr17:46466600-46468200	Enhancers	Adipose Nuclei	Adipose
17	chr17:46466800-46469600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:46467200-46468600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:46467400-46468400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:46467600-46468800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr17:46467800-46469400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:46467800-46469800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:46467800-46469800	Weak transcription	K562	blood
24	chr17:46467800-46470000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:46467800-46471600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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