Variant report

Variant	rs12937347
Chromosome Location	chr17:46471628-46471629
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46469610..46471986-chr17:46701612..46704022,2	K562	blood:
2	chr17:46465145..46467421-chr17:46468565..46471661,3	K562	blood:
3	chr17:46467729..46470192-chr17:46470642..46472241,2	K562	blood:
4	chr17:46457699..46459480-chr17:46469728..46472547,2	K562	blood:
5	chr17:46462185..46466645-chr17:46467369..46472149,5	K562	blood:

Variant related genes	Relation type
ENSG00000266222	Chromatin interaction
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12603827	0.86[ASN][1000 genomes]
rs1396868	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1553750	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2123344	0.88[ASN][1000 genomes]
rs2924250	0.89[ASN][1000 genomes]
rs2924254	0.90[ASN][1000 genomes]
rs2938470	0.88[ASN][1000 genomes]
rs4239201	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324172	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4423463	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4606751	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4793816	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504160	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211099	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7212220	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7213149	0.90[ASN][1000 genomes]
rs7216202	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7218287	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7218563	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221510	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8072002	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8073326	0.81[ASN][1000 genomes]
rs8077516	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8077763	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9797269	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9898383	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9906658	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12937347	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46438400-46471800	Weak transcription	Thymus	Thymus
2	chr17:46462400-46474200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:46463400-46472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:46463600-46471800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr17:46465000-46472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:46465600-46471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:46466000-46474600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr17:46468400-46472200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr17:46469200-46476800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:46469800-46472200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:46469800-46472200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:46470000-46472000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:46470400-46472400	Strong transcription	Primary T cells from cord blood	blood
14	chr17:46470400-46473600	Strong transcription	Fetal Thymus	thymus
15	chr17:46470600-46472400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:46470600-46474200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:46470600-46474200	Strong transcription	GM12878-XiMat	blood
18	chr17:46470600-46479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:46470800-46472000	Enhancers	Fetal Lung	lung
20	chr17:46471200-46472000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:46471200-46472400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:46471600-46475800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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