Variant report

Variant	rs62054591
Chromosome Location	chr16:81073092-81073093
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81072287..81074063-chr16:81088613..81090829,2	K562	blood:
2	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
3	chr16:81068310..81071293-chr16:81072010..81074075,3	K562	blood:
4	chr16:81039321..81041372-chr16:81071649..81073188,2	K562	blood:

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000261141	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72822014	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62054591	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81070600-81073800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:81070600-81075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:81070800-81073400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr16:81070800-81073800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81070800-81081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81071000-81074000	Weak transcription	Primary B cells from cord blood	blood
7	chr16:81071000-81074600	Enhancers	Brain Substantia Nigra	brain
8	chr16:81071000-81074600	Weak transcription	HSMM	muscle
9	chr16:81071000-81075200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:81071000-81075200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:81071000-81075400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:81071000-81075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:81071000-81075800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:81071000-81076400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr16:81071000-81079800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:81071200-81073400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr16:81071200-81073400	Weak transcription	NH-A	brain
18	chr16:81071200-81073600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr16:81071200-81073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:81071200-81073800	Weak transcription	Fetal Thymus	thymus
21	chr16:81071200-81073800	Weak transcription	Small Intestine	intestine
22	chr16:81071200-81074000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:81071200-81074000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:81071200-81074000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:81071200-81074200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:81071200-81074200	Enhancers	Brain Angular Gyrus	brain
27	chr16:81071200-81074200	Enhancers	Brain Hippocampus Middle	brain
28	chr16:81071200-81074200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:81071200-81074400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:81071200-81074400	Weak transcription	Primary T cells from cord blood	blood
31	chr16:81071200-81074400	Weak transcription	Liver	Liver
32	chr16:81071200-81074400	Weak transcription	HMEC	breast
33	chr16:81071200-81074400	Weak transcription	HUVEC	blood vessel
34	chr16:81071200-81074600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:81071200-81074600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:81071200-81074600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr16:81071200-81074600	Weak transcription	A549	lung
38	chr16:81071200-81074800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:81071200-81075000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr16:81071200-81075000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:81071200-81075000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:81071200-81075000	Enhancers	Brain Cingulate Gyrus	brain
43	chr16:81071200-81075000	Weak transcription	Brain Germinal Matrix	brain
44	chr16:81071200-81075000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:81071200-81075000	Weak transcription	Fetal Kidney	kidney
46	chr16:81071200-81075000	Weak transcription	Fetal Lung	lung
47	chr16:81071200-81075000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr16:81071200-81075000	Weak transcription	Right Ventricle	heart
49	chr16:81071200-81075000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:81071200-81075000	Weak transcription	HSMMtube	muscle

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