Variant report

Variant	rs6448478
Chromosome Location	chr4:26843058-26843059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26837390..26839392-chr4:26842052..26843597,2	K562	blood:
2	chr4:26842658..26844701-chr4:26856805..26859356,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10023256	0.81[JPT][hapmap]
rs12644232	1.00[JPT][hapmap]
rs12648597	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13434709	0.80[JPT][hapmap]
rs17555311	0.94[JPT][hapmap]
rs28445387	0.83[EUR][1000 genomes]
rs3924177	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4133239	0.83[EUR][1000 genomes]
rs4259045	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4376128	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4575981	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4692128	0.83[EUR][1000 genomes]
rs4692129	0.90[ASW][hapmap];0.92[CEU][hapmap];0.89[MEX][hapmap];0.83[EUR][1000 genomes]
rs4692131	0.88[ASN][1000 genomes]
rs4692132	0.81[JPT][hapmap]
rs6448480	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6448481	0.86[ASN][1000 genomes]
rs6448482	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6448483	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6448485	0.88[ASN][1000 genomes]
rs6448486	0.84[CEU][hapmap]
rs6448487	0.95[JPT][hapmap]
rs6830323	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6830424	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6831605	1.00[JPT][hapmap]
rs6847438	1.00[JPT][hapmap]
rs725981	0.89[JPT][hapmap]
rs7658174	0.95[JPT][hapmap]
rs7666651	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7678576	0.83[EUR][1000 genomes]
rs7688788	0.92[CEU][hapmap]
rs7692953	1.00[JPT][hapmap]
rs9654110	0.81[JPT][hapmap]
rs9998368	0.83[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6448478	STIM2	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26839200-26843200	Enhancers	Fetal Heart	heart
2	chr4:26840000-26858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:26840600-26844200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:26841200-26843400	Enhancers	Thymus	Thymus
5	chr4:26841400-26845400	Weak transcription	Gastric	stomach
6	chr4:26841400-26858600	Weak transcription	Aorta	Aorta
7	chr4:26841600-26843600	Weak transcription	Right Atrium	heart
8	chr4:26841600-26858600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:26842200-26843400	Enhancers	Fetal Thymus	thymus
10	chr4:26842400-26858800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:26842800-26845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:26842800-26846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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