Variant report

Variant	rs7212220
Chromosome Location	chr17:46502212-46502213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46500936..46503842-chr17:46534803..46536418,2	K562	blood:
2	chr17:46498978..46503056-chr17:46506628..46509777,3	MCF-7	breast:
3	chr17:46499517..46502307-chr17:46698484..46700258,2	K562	blood:

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12937347	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1396868	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1553750	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858162	0.82[ASN][1000 genomes]
rs4239201	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4267363	0.81[ASN][1000 genomes]
rs4324172	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4423463	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4606751	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4793816	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6504160	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6504210	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6504256	0.82[ASN][1000 genomes]
rs7211099	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211780	0.82[ASN][1000 genomes]
rs7216202	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7218287	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7218563	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7221510	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8072002	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8073326	0.82[ASN][1000 genomes]
rs8077516	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8077763	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9797269	0.83[ASN][1000 genomes]
rs9898383	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9906658	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7212220	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46486800-46503000	Weak transcription	Thymus	Thymus
2	chr17:46487800-46503600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46489800-46505000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr17:46492000-46503000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:46494600-46503600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:46494800-46502600	Weak transcription	GM12878-XiMat	blood
7	chr17:46498400-46503200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr17:46498600-46503600	Enhancers	Primary T cells from cord blood	blood
9	chr17:46498800-46502400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:46499800-46503600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr17:46500600-46503600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:46500800-46502800	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr17:46500800-46503000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr17:46501000-46502400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:46501000-46502600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:46501600-46503600	Weak transcription	A549	lung
17	chr17:46502000-46502600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr17:46502200-46503400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:46502200-46503800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:46502200-46505200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:46502200-46505200	Enhancers	Fetal Thymus	thymus

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