Variant report

Variant	rs4443379
Chromosome Location	chr5:68262453-68262454
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	chr5:68258016..68260416-chr5:68261824..68264961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250066	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10035142	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10042265	0.94[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10055717	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10755226	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805425	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10940191	0.81[ASN][1000 genomes]
rs12656917	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3922936	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3922937	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4373240	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4432834	0.82[ASN][1000 genomes]
rs4594812	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4976004	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4976007	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4976056	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4976057	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4976058	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4976067	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4976068	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5022687	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5022688	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6449989	0.92[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6450000	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6873039	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6873113	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874327	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6874774	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877507	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877626	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877919	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6882278	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6887916	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6888650	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6894214	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7446085	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7711962	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7712326	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7712349	0.94[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7718238	0.81[ASN][1000 genomes]
rs7718531	0.80[ASN][1000 genomes]
rs7729300	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7732664	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7732834	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7733298	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7733454	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734105	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830332	chr5:68238288-68282681	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3421637	chr5:68258596-68263994	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3334736	chr5:68259096-68263094	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3345357	chr5:68259296-68263394	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3435534	chr5:68259296-68263394	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3443872	chr5:68260446-68262944	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4443379	MAST4	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68262000-68262600	Enhancers	Fetal Muscle Trunk	muscle
2	chr5:68262200-68262600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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