Variant report

Variant	rs57338459
Chromosome Location	chr11:62660402-62660403
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62553141..62555419-chr11:62655397..62661476,6	K562	blood:
2	chr11:62357198..62358935-chr11:62658894..62660600,2	MCF-7	breast:
3	chr11:62621814..62625254-chr11:62658998..62662900,4	K562	blood:
4	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
5	chr11:62659835..62661552-chr11:62670879..62672513,2	K562	blood:
6	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:

Variant related genes	Relation type
ENSG00000168003	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 55 )
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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	0.89[AFR][1000 genomes];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	0.81[AFR][1000 genomes];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]
rs575134	1.00[EUR][1000 genomes]
rs577071	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[AMR][1000 genomes];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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487880	0.91[AFR][1000 genomes];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:6 , 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	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
4	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
5	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
6	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62651800-62667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62657200-62661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:62657200-62662800	Weak transcription	Dnd41	blood
4	chr11:62657200-62664600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:62657200-62666400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:62657200-62666600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:62657200-62667600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:62657400-62671000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:62657600-62662800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:62657600-62663000	Weak transcription	HMEC	breast
11	chr11:62657600-62663600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:62657600-62663800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:62657600-62663800	Weak transcription	Brain Germinal Matrix	brain
14	chr11:62657600-62664600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:62657800-62660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:62657800-62660600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:62657800-62660800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:62657800-62660800	Weak transcription	Primary T cells from cord blood	blood
19	chr11:62657800-62661000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:62657800-62661000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:62657800-62661000	Weak transcription	NH-A	brain
22	chr11:62657800-62661200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:62657800-62661400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:62657800-62661400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:62657800-62661600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:62657800-62662000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:62657800-62662600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:62657800-62662800	Weak transcription	Left Ventricle	heart
29	chr11:62657800-62663600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:62657800-62663600	Weak transcription	Esophagus	oesophagus
31	chr11:62657800-62663800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:62657800-62663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:62657800-62664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:62657800-62664600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:62657800-62664600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:62657800-62664600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:62657800-62664600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:62657800-62664800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:62657800-62664800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:62657800-62665000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:62657800-62669800	Weak transcription	GM12878-XiMat	blood
42	chr11:62658200-62661200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:62658800-62663000	Weak transcription	HUVEC	blood vessel
44	chr11:62658800-62663800	Weak transcription	Adipose Nuclei	Adipose
45	chr11:62659000-62661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:62659000-62662800	Weak transcription	Lung	lung
47	chr11:62659000-62662800	Weak transcription	Spleen	Spleen
48	chr11:62659000-62663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:62659000-62663600	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:62659000-62663800	Weak transcription	Brain Anterior Caudate	brain

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