Variant report

Variant	rs12793595
Chromosome Location	chr11:86484642-86484643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86380098..86384314-chr11:86483853..86489131,7	MCF-7	breast:
2	chr11:86450780..86453510-chr11:86484513..86491302,5	MCF-7	breast:
3	chr11:86482891..86485610-chr11:86489751..86491616,2	K562	blood:
4	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
5	chr11:86472552..86476130-chr11:86481757..86485497,4	MCF-7	breast:
6	chr11:86483713..86491421-chr11:86509174..86514607,12	MCF-7	breast:
7	chr11:86476625..86478672-chr11:86482969..86484752,2	K562	blood:
8	chr11:86414473..86417898-chr11:86484349..86489062,8	MCF-7	breast:
9	chr11:86484180..86486892-chr11:86490481..86492650,2	MCF-7	breast:
10	chr11:86464300..86466562-chr11:86483037..86485838,2	MCF-7	breast:
11	chr11:86479312..86481621-chr11:86482374..86485303,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10501629	1.00[CHB][hapmap]
rs10898531	1.00[CHB][hapmap]
rs10898535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234753	1.00[CHB][hapmap]
rs11234765	1.00[CHB][hapmap]
rs11234767	1.00[CHB][hapmap]
rs11234768	1.00[CHB][hapmap]
rs11234778	1.00[CHB][hapmap]
rs11234798	1.00[CHB][hapmap]
rs11234799	1.00[CHB][hapmap]
rs11234804	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234805	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234806	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234818	1.00[CHB][hapmap]
rs11602353	1.00[CHB][hapmap]
rs11602721	1.00[ASN][1000 genomes]
rs11606902	1.00[ASN][1000 genomes]
rs11607392	1.00[CHB][hapmap]
rs11608167	1.00[CHB][hapmap]
rs12360547	1.00[CHB][hapmap]
rs12362094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786875	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787853	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788554	1.00[ASN][1000 genomes]
rs12791740	1.00[CHB][hapmap]
rs12799567	1.00[ASN][1000 genomes]
rs12805252	0.81[EUR][1000 genomes]
rs12805405	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17149343	0.84[YRI][hapmap]
rs17159941	1.00[CHB][hapmap]
rs17758195	1.00[CHB][hapmap]
rs17758206	1.00[CHB][hapmap]
rs17758334	1.00[CHB][hapmap]
rs17758376	1.00[CHB][hapmap]
rs17758400	1.00[CHB][hapmap]
rs17820139	1.00[CHB][hapmap]
rs1815753	1.00[CHB][hapmap]
rs1939118	1.00[ASN][1000 genomes]
rs2000537	1.00[ASN][1000 genomes]
rs2000538	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2105587	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2186617	1.00[ASN][1000 genomes]
rs34873514	1.00[ASN][1000 genomes]
rs34906001	0.85[AFR][1000 genomes]
rs3781614	1.00[ASN][1000 genomes]
rs4363628	0.85[YRI][hapmap]
rs6592313	1.00[CHB][hapmap]
rs6592314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102870	0.93[YRI][hapmap];0.94[AFR][1000 genomes]
rs7105597	1.00[CHB][hapmap]
rs7128682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128805	1.00[CHB][hapmap]
rs71465661	0.86[AFR][1000 genomes]
rs744293	0.89[AFR][1000 genomes]
rs750789	1.00[ASN][1000 genomes]
rs754490	1.00[ASN][1000 genomes]
rs7937881	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs872619	1.00[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr11:86484000-86486000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:86484000-86486400	Enhancers	Hela-S3	cervix
3	chr11:86484200-86484800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:86484200-86484800	Enhancers	Duodenum Mucosa	Duodenum
5	chr11:86484200-86485400	Enhancers	Fetal Stomach	stomach
6	chr11:86484400-86485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86484400-86485600	Enhancers	Fetal Lung	lung
8	chr11:86484600-86484800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:86484600-86485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86484600-86485000	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:86484600-86485000	Enhancers	Left Ventricle	heart
12	chr11:86484600-86485000	Enhancers	Pancreas	Pancrea

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