Variant report

Variant	rs357371
Chromosome Location	chr7:137982028-137982029
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: 4 )

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

rs_ID	r²[population]
rs11983566	0.88[ASN][1000 genomes]
rs1643164	0.85[ASN][1000 genomes]
rs357372	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs357381	0.83[ASN][1000 genomes]
rs357382	0.82[ASN][1000 genomes]
rs357383	0.88[ASN][1000 genomes]
rs357386	0.87[ASN][1000 genomes]
rs357435	0.83[ASN][1000 genomes]
rs357437	0.83[ASN][1000 genomes]
rs357445	0.85[ASN][1000 genomes]
rs357451	0.85[ASN][1000 genomes]
rs357454	0.81[ASN][1000 genomes]
rs357456	0.86[ASN][1000 genomes]
rs357457	0.86[ASN][1000 genomes]
rs367783	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs370275	0.84[ASN][1000 genomes]
rs373613	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs375018	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs380650	0.91[CHD][hapmap];0.84[JPT][hapmap];0.90[TSI][hapmap];0.88[ASN][1000 genomes]
rs382122	0.82[ASN][1000 genomes]
rs385127	0.81[ASN][1000 genomes]
rs392162	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs396918	0.85[ASN][1000 genomes]
rs397203	0.86[ASN][1000 genomes]
rs398970	0.85[ASN][1000 genomes]
rs399486	0.85[ASN][1000 genomes]
rs402228	0.85[ASN][1000 genomes]
rs402358	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs402486	0.87[ASN][1000 genomes]
rs407687	0.86[ASN][1000 genomes]
rs409813	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs424605	0.88[ASN][1000 genomes]
rs427954	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs428488	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs429103	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs431358	0.86[ASN][1000 genomes]
rs432187	0.86[ASN][1000 genomes]
rs446384	0.83[ASN][1000 genomes]
rs447273	0.88[ASN][1000 genomes]
rs449239	0.82[ASN][1000 genomes]
rs60969	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs689683	0.85[ASN][1000 genomes]
rs690193	0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs357371	RNF219	trans	cerebellum	SCAN
rs357371	AKR1B10	cis	parietal	SCAN
rs357371	CLEC5A	cis	cerebellum	SCAN
rs357371	BRAF	cis	cerebellum	SCAN

Chromatin state (count:8 , 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	chr7:137980200-137982600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:137980200-137984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:137980200-137984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:137980400-137982400	Weak transcription	HepG2	liver
6	chr7:137981600-137982600	Enhancers	Liver	Liver
7	chr7:137981600-137982600	Enhancers	Stomach Mucosa	stomach
8	chr7:137981800-137988200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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