Variant report

Variant	rs2958240
Chromosome Location	chr11:62451163-62451164
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62448638..62451490-chr11:62456839..62459216,2	MCF-7	breast:
2	chr11:62449627..62451761-chr11:62506289..62508572,2	K562	blood:
3	chr11:62449223..62453098-chr11:62608592..62610526,4	K562	blood:
4	chr11:62445342..62448306-chr11:62450365..62452289,3	K562	blood:
5	chr11:62445342..62448306-chr11:62450468..62452289,2	K562	blood:
6	chr11:62450298..62454112-chr11:62454778..62458021,3	K562	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000162222	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
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]
rs2956999	0.97[AFR][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[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[EUR][1000 genomes]
rs575134	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs577071	1.00[EUR][1000 genomes]
rs57858466	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[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
7	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62446800-62455400	Weak transcription	Gastric	stomach
2	chr11:62447000-62455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:62447000-62457400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:62447000-62457600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:62447000-62457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:62447000-62458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:62447000-62472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:62447200-62455400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:62447200-62456800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:62447200-62457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:62447200-62457200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:62447200-62457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:62447200-62457600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:62447200-62458400	Weak transcription	HMEC	breast
15	chr11:62448400-62454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:62448400-62455200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:62448400-62455200	Weak transcription	Lung	lung
18	chr11:62448600-62455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:62448600-62458600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:62448800-62451200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:62448800-62452200	Weak transcription	Placenta	Placenta
22	chr11:62448800-62454000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:62448800-62455000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:62448800-62457600	Weak transcription	Dnd41	blood
25	chr11:62448800-62458800	Weak transcription	GM12878-XiMat	blood
26	chr11:62449000-62453800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:62449000-62455000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:62449000-62455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:62449000-62455200	Weak transcription	Colonic Mucosa	Colon
30	chr11:62449000-62455400	Weak transcription	Right Ventricle	heart
31	chr11:62449000-62457800	Weak transcription	HepG2	liver
32	chr11:62449200-62455000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:62449200-62455000	Weak transcription	NHDF-Ad	bronchial
34	chr11:62449200-62455400	Weak transcription	Adipose Nuclei	Adipose
35	chr11:62450200-62455200	Weak transcription	Pancreas	Pancrea
36	chr11:62450200-62457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:62450400-62454400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:62451000-62456800	Weak transcription	K562	blood

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