Variant report

Variant	rs4548815
Chromosome Location	chr6:20234022-20234023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:20233889..20236800-chr6:20238338..20241700,4	K562	blood:
2	chr6:20233971..20236766-chr6:20402526..20404050,2	MCF-7	breast:
3	chr6:20210967..20214150-chr6:20231659..20234377,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112242	Chromatin interaction
ENSG00000227803	Chromatin interaction
ENSG00000172197	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1030888	0.82[EUR][1000 genomes]
rs10459601	0.82[EUR][1000 genomes]
rs11072484	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072491	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11857192	0.83[EUR][1000 genomes]
rs12439054	0.82[EUR][1000 genomes]
rs12441794	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866114	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2099593	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2415243	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28362872	0.88[AMR][1000 genomes]
rs28362901	0.85[AMR][1000 genomes]
rs28854237	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899826	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4887145	0.88[AMR][1000 genomes]
rs4887146	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887156	0.82[EUR][1000 genomes]
rs4887158	0.82[EUR][1000 genomes]
rs56274514	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56363130	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59665282	0.82[EUR][1000 genomes]
rs6495104	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495107	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495112	0.85[EUR][1000 genomes]
rs7161990	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7175512	0.85[EUR][1000 genomes]
rs7497036	0.88[EUR][1000 genomes]
rs750608	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8023786	0.88[EUR][1000 genomes]
rs8028893	0.82[EUR][1000 genomes]
rs8036616	0.88[AMR][1000 genomes]
rs8041068	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8041121	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8042323	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9788672	0.88[EUR][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	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1027355	chr6:20207893-20261048	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1027220	chr6:20213667-20258103	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1028657	chr6:20215081-20258103	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv883466	chr6:20231272-20265965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20230400-20236600	Weak transcription	Stomach Mucosa	stomach
2	chr6:20231600-20236400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:20234000-20238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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