Variant report

Variant	rs4794674
Chromosome Location	chr17:46516479-46516480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46515918..46518045-chr17:46519847..46521809,2	K562	blood:
2	chr17:46466673..46468665-chr17:46514612..46517414,2	K562	blood:
3	chr17:46516365..46518843-chr17:46533348..46535328,2	K562	blood:
4	chr17:46516289..46518100-chr17:46524558..46526108,2	K562	blood:
5	chr17:46340880..46343379-chr17:46515799..46517839,2	K562	blood:
6	chr17:46511985..46515396-chr17:46515822..46520337,5	K562	blood:
7	chr17:46514248..46517781-chr17:46547190..46550869,3	K562	blood:

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

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

rs_ID	r²[population]
rs1027895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12942428	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1396868	0.82[ASN][1000 genomes]
rs1553750	0.82[ASN][1000 genomes]
rs1858162	0.92[ASN][1000 genomes]
rs4267363	0.92[ASN][1000 genomes]
rs4793846	0.91[AFR][1000 genomes]
rs4794678	0.96[ASN][1000 genomes]
rs6504256	0.92[ASN][1000 genomes]
rs7209010	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7211636	0.96[ASN][1000 genomes]
rs7211780	0.92[ASN][1000 genomes]
rs7212325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7218287	0.81[ASN][1000 genomes]
rs8073326	0.91[ASN][1000 genomes]
rs9747116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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
rs4794674	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46508000-46517000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr17:46508000-46517800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr17:46508200-46517000	Weak transcription	Pancreas	Pancrea
4	chr17:46508200-46517200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr17:46508200-46517800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46510200-46517600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr17:46510600-46519000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:46510600-46524000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:46511600-46518000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46512400-46518000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:46512600-46516800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:46512600-46517200	Enhancers	Primary T cells from cord blood	blood
13	chr17:46512600-46524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:46513600-46523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:46513800-46516800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr17:46513800-46520800	Enhancers	Fetal Thymus	thymus
17	chr17:46514200-46516600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:46514200-46519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:46514800-46522000	Enhancers	Primary B cells from peripheral blood	blood
20	chr17:46515200-46517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:46515400-46518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:46515400-46520600	Enhancers	Primary hematopoietic stem cells	blood
23	chr17:46515400-46522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:46515600-46516600	Enhancers	GM12878-XiMat	blood
25	chr17:46515600-46520600	Enhancers	Thymus	Thymus
26	chr17:46515800-46517400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:46515800-46518200	Enhancers	Fetal Kidney	kidney
28	chr17:46515800-46522600	Enhancers	K562	blood
29	chr17:46515800-46524000	Enhancers	Primary B cells from cord blood	blood
30	chr17:46516000-46519600	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:46516200-46518200	Bivalent Enhancer	Fetal Lung	lung
32	chr17:46516400-46517200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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