Variant report

Variant	rs62134054
Chromosome Location	chr2:32556770-32556771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32554976..32557695-chr2:32560953..32563653,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470951	0.83[EUR][1000 genomes]
rs12475684	0.89[EUR][1000 genomes]
rs17011943	0.91[EUR][1000 genomes]
rs17011947	0.83[EUR][1000 genomes]
rs35368935	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952257	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952259	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952260	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788900	0.89[EUR][1000 genomes]
rs57813560	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61045200	1.00[ASN][1000 genomes]
rs61439415	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134039	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134043	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134044	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134045	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134050	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134059	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62136263	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62136264	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62136276	0.87[EUR][1000 genomes]
rs62136278	0.89[EUR][1000 genomes]
rs62136279	0.87[EUR][1000 genomes]
rs62136280	0.83[EUR][1000 genomes]
rs62136282	0.83[EUR][1000 genomes]
rs62136284	0.83[EUR][1000 genomes]
rs62136285	0.83[EUR][1000 genomes]
rs62136286	0.83[EUR][1000 genomes]
rs62136287	0.80[EUR][1000 genomes]
rs62136302	0.85[EUR][1000 genomes]
rs6543655	0.84[AFR][1000 genomes]
rs72798728	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798733	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798784	0.80[EUR][1000 genomes]
rs7609320	0.83[EUR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32528800-32560800	Weak transcription	Right Ventricle	heart
2	chr2:32528800-32566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:32529800-32565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:32532800-32559800	Weak transcription	HSMM	muscle
5	chr2:32536000-32564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:32536000-32564400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:32536000-32581400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:32536200-32557200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:32536200-32560200	Weak transcription	Placenta	Placenta
10	chr2:32536200-32565400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:32536200-32566000	Weak transcription	Thymus	Thymus
12	chr2:32536400-32558400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:32536400-32565800	Weak transcription	Left Ventricle	heart
14	chr2:32536400-32567400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:32536600-32566400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:32536800-32566400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:32538200-32557200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:32540000-32557000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:32540400-32560000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:32540600-32565000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:32546400-32567800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:32547200-32564800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:32547200-32567400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:32547200-32570600	Weak transcription	Fetal Stomach	stomach
25	chr2:32547200-32581200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:32547400-32566400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:32550000-32581200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:32553400-32557000	Enhancers	Fetal Intestine Small	intestine
29	chr2:32555000-32557400	Enhancers	Liver	Liver
30	chr2:32555200-32556800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:32555200-32557800	Enhancers	HepG2	liver
32	chr2:32555600-32560600	Weak transcription	A549	lung
33	chr2:32555800-32557000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:32555800-32557000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr2:32556000-32556800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:32556000-32561600	Weak transcription	Ovary	ovary
37	chr2:32556200-32557200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:32556400-32556800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:32556400-32563800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:32556600-32560600	Weak transcription	Stomach Mucosa	stomach
41	chr2:32556600-32560800	Weak transcription	Fetal Intestine Large	intestine

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