Variant report

Variant	rs7218478
Chromosome Location	chr17:38765666-38765667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38764344..38766277-chr17:38769758..38772025,3	MCF-7	breast:
2	chr17:38763229..38767526-chr17:38771780..38775135,4	MCF-7	breast:
3	chr17:38757958..38759692-chr17:38764685..38766532,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11654834	0.89[AFR][1000 genomes]
rs11659024	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55664118	0.84[AFR][1000 genomes]
rs6503545	0.82[AFR][1000 genomes]
rs7224919	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs803124	0.94[ASN][1000 genomes]
rs8066541	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8074179	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9630727	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9894823	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9902509	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][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	nsv574994	chr17:38719799-38824636	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2758454	chr17:38748300-38850104	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758689	chr17:38748300-38850104	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7218478	SMARCE1	Cis_1M	lymphoblastoid	RTeQTL
rs7218478	KRT24	cis	Esophagus Mucosa	GTEx
rs7218478	SMARCE1	cis	multi-tissue	Pritchard
rs7218478	CCR7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38760800-38766200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:38761800-38769000	Weak transcription	Esophagus	oesophagus
3	chr17:38761800-38769000	Weak transcription	Spleen	Spleen
4	chr17:38763400-38775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:38764200-38769000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:38764200-38769200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:38764200-38770800	Weak transcription	Lung	lung
8	chr17:38764400-38768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:38764400-38769000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr17:38764400-38769400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:38764600-38768400	Enhancers	Primary T cells from cord blood	blood
12	chr17:38764600-38769000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:38764600-38769000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:38764600-38769000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr17:38764600-38769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr17:38764600-38769000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:38764600-38769000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:38764600-38769000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr17:38764600-38769000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:38764800-38771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:38765200-38766600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:38765200-38768200	Weak transcription	Adipose Nuclei	Adipose
23	chr17:38765200-38769000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr17:38765200-38769200	Weak transcription	Primary B cells from cord blood	blood
25	chr17:38765400-38767800	Weak transcription	Fetal Thymus	thymus
26	chr17:38765400-38770800	Weak transcription	Placenta	Placenta

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