Variant report

Variant	rs33998578
Chromosome Location	chr4:90030864-90030865
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	chr4:90021012..90023295-chr4:90030744..90032396,2	K562	blood:
2	chr4:90030188..90033002-chr4:90049823..90052502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212226	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10000140	1.00[ASN][1000 genomes]
rs10027874	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030342	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734085	1.00[ASN][1000 genomes]
rs12506327	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507819	1.00[ASN][1000 genomes]
rs13113298	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115669	1.00[ASN][1000 genomes]
rs13120109	1.00[ASN][1000 genomes]
rs13137443	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138946	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13150503	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513817	1.00[ASN][1000 genomes]
rs1588730	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770341	1.00[ASN][1000 genomes]
rs17821540	1.00[ASN][1000 genomes]
rs17823587	1.00[ASN][1000 genomes]
rs2056012	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195755	1.00[ASN][1000 genomes]
rs34008667	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075854	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34300408	1.00[ASN][1000 genomes]
rs34624010	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35130975	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35652620	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35909707	1.00[ASN][1000 genomes]
rs36111123	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5004788	1.00[ASN][1000 genomes]
rs62304457	0.89[AMR][1000 genomes]
rs62306389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814023	1.00[ASN][1000 genomes]
rs6823660	1.00[ASN][1000 genomes]
rs6856010	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668782	1.00[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90017200-90031600	Weak transcription	Right Atrium	heart
2	chr4:90024200-90031800	Weak transcription	Aorta	Aorta
3	chr4:90028400-90031200	Weak transcription	Ovary	ovary
4	chr4:90028600-90031200	Weak transcription	Right Ventricle	heart
5	chr4:90029600-90031600	Weak transcription	Left Ventricle	heart
6	chr4:90030400-90031200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:90030800-90031000	Weak transcription	Pancreas	Pancrea
8	chr4:90030800-90033600	Active TSS	Pancreatic Islets	Pancreatic Islet

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