Variant report

Variant	rs8058979
Chromosome Location	chr16:81064226-81064227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81064016-81064616	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:81064137-81064518	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81053262..81055946-chr16:81062478..81064809,2	K562	blood:
2	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
3	chr16:81062101..81064821-chr16:81128185..81130104,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261061	TF binding region
ENSG00000140905	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17763866	1.00[ASN][1000 genomes]
rs2549889	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054243	1.00[ASN][1000 genomes]
rs62054588	0.93[AMR][1000 genomes]
rs62054592	1.00[ASN][1000 genomes]
rs62054593	1.00[ASN][1000 genomes]
rs62056081	1.00[ASN][1000 genomes]
rs7189182	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv1802804	chr16:81061827-81070110	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1838483	chr16:81061827-81070110	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1841728	chr16:81061827-81070110	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8058979	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041800-81069000	Weak transcription	Ovary	ovary
2	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
3	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
4	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
5	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:81042200-81068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:81042200-81069000	Weak transcription	Colonic Mucosa	Colon
8	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:81042400-81069000	Weak transcription	Brain Germinal Matrix	brain
10	chr16:81042400-81069000	Weak transcription	Fetal Heart	heart
11	chr16:81043000-81064600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81043000-81065400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:81043200-81065200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:81044000-81064400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:81044000-81065200	Strong transcription	Thymus	Thymus
16	chr16:81044800-81065200	Strong transcription	Hela-S3	cervix
17	chr16:81045200-81065200	Strong transcription	A549	lung
18	chr16:81045400-81065200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:81046400-81064600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:81047800-81069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:81048400-81069000	Weak transcription	Fetal Kidney	kidney
22	chr16:81048600-81069000	Weak transcription	Fetal Brain Female	brain
23	chr16:81049000-81069000	Weak transcription	Right Ventricle	heart
24	chr16:81050200-81069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:81050600-81069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:81053000-81069400	Weak transcription	Aorta	Aorta
27	chr16:81053400-81064800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:81053400-81068800	Weak transcription	Brain Angular Gyrus	brain
29	chr16:81053600-81069000	Weak transcription	Brain Anterior Caudate	brain
30	chr16:81053800-81068800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr16:81054000-81068800	Weak transcription	Brain Substantia Nigra	brain
32	chr16:81054200-81064800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:81054200-81069000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:81055200-81068800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:81055200-81069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
37	chr16:81055400-81069000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr16:81055400-81069200	Weak transcription	NHLF	lung
39	chr16:81055600-81069000	Weak transcription	Lung	lung
40	chr16:81055600-81069400	Weak transcription	Gastric	stomach
41	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:81055800-81069000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr16:81055800-81069400	Weak transcription	Left Ventricle	heart
44	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
45	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr16:81056600-81068800	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:81057000-81069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:81057000-81069000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:81057200-81069000	Weak transcription	Primary B cells from cord blood	blood

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