Variant report

Variant	rs950373
Chromosome Location	chr7:126877871-126877872
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	chr7:126875739..126881778-chr7:126881781..126887011,8	K562	blood:
2	chr7:126876070..126878246-chr7:126882294..126883841,2	K562	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10228722	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs10487473	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1111182	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1120908	0.80[CEU][hapmap]
rs11563399	1.00[CHD][hapmap]
rs11563675	0.92[MEX][hapmap]
rs12111766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12706772	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs13222063	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs13246388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17862334	0.88[GIH][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes]
rs17863255	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs17865315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17865373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17866154	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs17869568	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4731347	1.00[CHD][hapmap]
rs7777222	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7797094	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs949914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1819919	chr7:126850298-126888714	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs950373	MIR593	cis	lymphoblastoid	seeQTL
rs950373	FSCN3	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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