Variant report

Variant	rs357372
Chromosome Location	chr7:137982771-137982772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137970347..137972756-chr7:137980665..137982972,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11983566	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1643164	0.88[ASN][1000 genomes]
rs357371	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs357381	0.86[ASN][1000 genomes]
rs357382	0.85[ASN][1000 genomes]
rs357383	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs357386	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs357435	0.86[ASN][1000 genomes]
rs357437	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs357445	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs357451	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs357454	0.84[ASN][1000 genomes]
rs357456	0.89[ASN][1000 genomes]
rs357457	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs367783	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs370275	0.87[ASN][1000 genomes]
rs373613	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs375018	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380650	0.84[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs382122	0.85[ASN][1000 genomes]
rs385127	0.84[ASN][1000 genomes]
rs392162	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs396918	0.88[ASN][1000 genomes]
rs397203	0.89[ASN][1000 genomes]
rs398970	0.88[ASN][1000 genomes]
rs399486	0.88[ASN][1000 genomes]
rs402228	0.88[ASN][1000 genomes]
rs402358	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs402486	0.90[ASN][1000 genomes]
rs407687	0.89[ASN][1000 genomes]
rs409813	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs424605	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs427954	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs428488	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs429103	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431358	0.88[ASN][1000 genomes]
rs432187	0.88[ASN][1000 genomes]
rs446384	0.86[ASN][1000 genomes]
rs447273	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs449239	0.85[ASN][1000 genomes]
rs60969	0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs689683	0.88[ASN][1000 genomes]
rs690193	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831152	chr7:137884311-138033117	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029101	chr7:137952620-138005671	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv517949	chr7:137962186-137992969	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs357372	CLEC5A	cis	cerebellum	SCAN
rs357372	OR9A4	cis	cerebellum	SCAN
rs357372	NUP205	cis	cerebellum	SCAN
rs357372	RNF219	trans	cerebellum	SCAN
rs357372	AKR1B10	cis	parietal	SCAN
rs357372	BRAF	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137979400-137982800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:137980200-137984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:137980200-137984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:137981800-137988200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:137982400-137983000	Enhancers	HepG2	liver

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