Variant report

Variant	rs57858466
Chromosome Location	chr11:62675499-62675500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62673903..62676195-chr11:62789782..62792073,3	MCF-7	breast:
2	chr11:62669282..62672318-chr11:62674114..62676047,3	K562	blood:
3	chr11:62660564..62662349-chr11:62673546..62676455,2	K562	blood:
4	chr11:62607202..62610335-chr11:62674353..62678655,4	MCF-7	breast:
5	chr11:62670875..62680186-chr11:62684644..62693105,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168539	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11568617	1.00[AMR][1000 genomes]
rs11568622	1.00[AMR][1000 genomes]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	1.00[EUR][1000 genomes]
rs482331	1.00[EUR][1000 genomes]
rs486451	1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	1.00[EUR][1000 genomes]
rs56226867	1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	1.00[EUR][1000 genomes]
rs572513	1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575134	1.00[EUR][1000 genomes]
rs577071	1.00[EUR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	1.00[EUR][1000 genomes]
rs73487878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73492003	1.00[AMR][1000 genomes]
rs73492015	1.00[AMR][1000 genomes]
rs73502133	1.00[EUR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62671200-62676600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:62671800-62676200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:62672800-62686200	Weak transcription	Fetal Brain Female	brain
4	chr11:62673200-62676200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:62673400-62675800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:62673400-62676200	Weak transcription	HMEC	breast
7	chr11:62673600-62675800	Weak transcription	Fetal Heart	heart
8	chr11:62673600-62676200	Weak transcription	Fetal Intestine Large	intestine
9	chr11:62673600-62679000	Weak transcription	K562	blood
10	chr11:62673800-62676000	Weak transcription	Stomach Mucosa	stomach
11	chr11:62673800-62676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:62673800-62676200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:62674000-62676200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:62674000-62676400	Weak transcription	Fetal Brain Male	brain
15	chr11:62674200-62675800	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:62674200-62676000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:62674200-62676000	Weak transcription	Brain Germinal Matrix	brain
18	chr11:62674200-62676200	Weak transcription	Placenta	Placenta
19	chr11:62674400-62675600	Weak transcription	Lung	lung
20	chr11:62674400-62676000	Weak transcription	Brain Angular Gyrus	brain
21	chr11:62674400-62676000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:62674600-62675600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:62674600-62676000	Weak transcription	Left Ventricle	heart
24	chr11:62674600-62676000	Weak transcription	Right Atrium	heart
25	chr11:62674600-62676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:62674600-62676200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:62674800-62676000	Weak transcription	Adipose Nuclei	Adipose
28	chr11:62674800-62676000	Weak transcription	Psoas Muscle	Psoas
29	chr11:62675000-62676200	Weak transcription	Fetal Intestine Small	intestine
30	chr11:62675200-62676400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr11:62675400-62675800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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