Variant report

Variant	rs11678584
Chromosome Location	chr2:32563426-32563427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32554976..32557695-chr2:32560953..32563653,2	K562	blood:
2	chr2:32562707..32566759-chr2:32579961..32583296,3	K562	blood:
3	chr2:32553694..32556476-chr2:32560953..32563581,2	K562	blood:
4	chr2:32561135..32565962-chr2:32580193..32583606,4	MCF-7	breast:
5	chr2:32563111..32565206-chr2:32580193..32581985,2	K562	blood:

Variant related genes	Relation type
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11682613	1.00[JPT][hapmap]
rs12470495	0.90[ASN][1000 genomes]
rs12712328	1.00[JPT][hapmap]
rs17011935	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17011982	1.00[JPT][hapmap]
rs17429032	1.00[JPT][hapmap]
rs17548357	1.00[JPT][hapmap]
rs3731579	1.00[JPT][hapmap]
rs56156683	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56232255	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58387006	0.90[ASN][1000 genomes]
rs58961991	0.93[ASN][1000 genomes]
rs60266202	0.90[ASN][1000 genomes]
rs6710522	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6724235	1.00[JPT][hapmap]
rs72798738	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72798752	0.97[ASN][1000 genomes]
rs72798756	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798757	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7579330	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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 target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32528800-32566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:32529800-32565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:32536000-32564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:32536000-32564400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:32536000-32581400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:32536200-32565400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:32536200-32566000	Weak transcription	Thymus	Thymus
8	chr2:32536400-32565800	Weak transcription	Left Ventricle	heart
9	chr2:32536400-32567400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:32536600-32566400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:32536800-32566400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:32540600-32565000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:32546400-32567800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:32547200-32564800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:32547200-32567400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:32547200-32570600	Weak transcription	Fetal Stomach	stomach
17	chr2:32547200-32581200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:32547400-32566400	Weak transcription	Primary T cells from cord blood	blood
19	chr2:32550000-32581200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:32556400-32563800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:32556800-32564200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:32557600-32569200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:32560200-32573800	Weak transcription	HSMM	muscle
24	chr2:32560600-32568800	Weak transcription	Placenta	Placenta
25	chr2:32561200-32564200	Weak transcription	A549	lung
26	chr2:32563000-32563800	Enhancers	Rectal Mucosa Donor 31	rectum

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