Variant report

Variant	rs1027895
Chromosome Location	chr17:46510697-46510698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr17:46510467-46510745	K562	blood:	n/a	n/a
2	BHLHE40	chr17:46510412-46510888	K562	blood:	n/a	n/a
3	MYC	chr17:46510505-46510715	K562	blood:	n/a	chr17:46510600-46510609 chr17:46510596-46510605 chr17:46510652-46510668
4	RCOR1	chr17:46510474-46510759	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46505182..46508070-chr17:46508849..46511744,2	K562	blood:
2	chr17:46505182..46508631-chr17:46508849..46512538,4	K562	blood:
3	chr17:46509583..46511402-chr17:46522704..46524795,2	K562	blood:

Variant related genes	Relation type
SKAP1	TF binding region
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12942428	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396868	0.83[ASN][1000 genomes]
rs1553750	0.83[ASN][1000 genomes]
rs1858162	0.91[ASN][1000 genomes]
rs4267363	0.90[ASN][1000 genomes]
rs4793846	0.91[AFR][1000 genomes]
rs4794674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4794678	0.95[ASN][1000 genomes]
rs6504256	0.91[ASN][1000 genomes]
rs7209010	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7211636	0.97[ASN][1000 genomes]
rs7211780	0.91[ASN][1000 genomes]
rs7212325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218287	0.82[ASN][1000 genomes]
rs8073326	0.92[ASN][1000 genomes]
rs9747116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1027895	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46508000-46511800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:46508000-46517000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr17:46508000-46517800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr17:46508200-46517000	Weak transcription	Pancreas	Pancrea
5	chr17:46508200-46517200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr17:46508200-46517800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr17:46508400-46512600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:46508400-46513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:46508400-46513800	Weak transcription	GM12878-XiMat	blood
10	chr17:46508800-46510800	Enhancers	Primary T cells from cord blood	blood
11	chr17:46509000-46511600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:46509200-46513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:46509400-46512600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:46509400-46513600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:46509800-46511800	Bivalent Enhancer	Fetal Brain Male	brain
16	chr17:46509800-46512200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr17:46510000-46511000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:46510200-46510800	Bivalent Enhancer	Fetal Kidney	kidney
19	chr17:46510200-46511200	Enhancers	Fetal Intestine Large	intestine
20	chr17:46510200-46511600	Bivalent Enhancer	Fetal Lung	lung
21	chr17:46510200-46511600	Enhancers	Fetal Thymus	thymus
22	chr17:46510200-46512000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:46510200-46512000	Enhancers	K562	blood
24	chr17:46510200-46517600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:46510400-46510800	Flanking Active TSS	Fetal Brain Female	brain
26	chr17:46510400-46511400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:46510600-46510800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr17:46510600-46519000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:46510600-46524000	Enhancers	Primary T cells fromperipheralblood	blood

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