Variant report

Variant	rs11695152
Chromosome Location	chr2:55656964-55656965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55466615..55468826-chr2:55656150..55659154,3	MCF-7	breast:
2	chr2:55494777..55497283-chr2:55655320..55657862,3	MCF-7	breast:
3	chr2:55646192..55651046-chr2:55651862..55657167,5	K562	blood:
4	chr2:55462241..55464416-chr2:55656583..55659722,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115355	Chromatin interaction
ENSG00000085760	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10169185	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11125568	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11125569	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11125572	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12618795	0.87[ASN][1000 genomes]
rs13417988	0.81[AFR][1000 genomes]
rs1454415	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1454419	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1454423	0.83[AFR][1000 genomes]
rs1454424	0.82[AFR][1000 genomes]
rs1598163	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1902062	0.92[AMR][1000 genomes]
rs2045135	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2100454	0.89[ASN][1000 genomes]
rs28501559	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867194	0.83[AFR][1000 genomes]
rs3748943	0.90[AFR][1000 genomes]
rs4233961	0.87[ASN][1000 genomes]
rs4277563	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4352263	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672032	0.87[ASN][1000 genomes]
rs4672033	0.88[ASN][1000 genomes]
rs4672034	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4672035	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4672040	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4672043	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4672044	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4672045	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56225989	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545489	0.88[ASN][1000 genomes]
rs6545490	0.88[ASN][1000 genomes]
rs6545492	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6709204	0.83[ASN][1000 genomes]
rs6720698	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6724840	0.87[ASN][1000 genomes]
rs6733814	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6744426	0.83[AFR][1000 genomes]
rs7559987	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7574743	0.83[AMR][1000 genomes]
rs7579037	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7589279	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7595396	0.99[ASN][1000 genomes]
rs7601340	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602189	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7603105	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
2	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:55653200-55657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:55653200-55657400	Weak transcription	HUVEC	blood vessel
5	chr2:55653200-55657400	Weak transcription	Osteobl	bone
6	chr2:55653200-55657600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:55653200-55658000	Weak transcription	NHDF-Ad	bronchial
8	chr2:55653400-55657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:55653400-55657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:55653400-55657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:55655200-55659400	Enhancers	Hela-S3	cervix
12	chr2:55655800-55659000	Weak transcription	A549	lung

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