Variant report

Variant	rs2081215
Chromosome Location	chr16:81024876-81024877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81009604..81011384-chr16:81022091..81025073,2	K562	blood:
2	chr16:81023188..81026086-chr16:81027867..81032620,4	MCF-7	breast:
3	chr16:81023827..81025532-chr16:81042311..81045114,2	K562	blood:

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12448368	0.84[ASN][1000 genomes]
rs13331285	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13331458	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13337497	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16944340	0.89[ASN][1000 genomes]
rs16944343	0.91[ASN][1000 genomes]
rs16944344	0.91[ASN][1000 genomes]
rs16954368	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16954370	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16954379	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16954399	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2081216	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303215	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303216	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28532906	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28544251	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28635633	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3743503	0.84[ASN][1000 genomes]
rs3784815	0.83[ASN][1000 genomes]
rs3826049	0.83[ASN][1000 genomes]
rs4514692	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61540150	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62054244	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62054245	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62054247	0.81[EUR][1000 genomes]
rs62054248	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62054249	0.81[EUR][1000 genomes]
rs62054250	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62056080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62056081	0.81[EUR][1000 genomes]
rs62056084	0.86[ASN][1000 genomes]
rs62056086	0.95[AFR][1000 genomes]
rs7202452	0.86[ASN][1000 genomes]
rs7202885	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8045514	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9935739	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	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
14	esv2753780	chr16:81010299-81028799	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2081215	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
2	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:81001400-81026400	Weak transcription	NHLF	lung
4	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
6	chr16:81004200-81025000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
9	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
10	chr16:81007600-81027000	Weak transcription	Fetal Brain Female	brain
11	chr16:81007800-81026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:81008600-81026400	Weak transcription	NHDF-Ad	bronchial
13	chr16:81009000-81026800	Weak transcription	Fetal Lung	lung
14	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
15	chr16:81009400-81026400	Weak transcription	Small Intestine	intestine
16	chr16:81009400-81026800	Weak transcription	Aorta	Aorta
17	chr16:81009800-81026000	Weak transcription	NH-A	brain
18	chr16:81010000-81030800	Weak transcription	Ovary	ovary
19	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81014400-81025000	Weak transcription	Adipose Nuclei	Adipose
22	chr16:81014400-81026400	Weak transcription	Brain Anterior Caudate	brain
23	chr16:81014400-81026400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr16:81014400-81026400	Weak transcription	Placenta	Placenta
25	chr16:81014400-81026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:81014400-81030400	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:81014400-81030800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
29	chr16:81014600-81025800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:81014600-81026400	Weak transcription	HSMM	muscle
31	chr16:81014600-81026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:81014600-81026600	Weak transcription	Fetal Brain Male	brain
33	chr16:81014600-81027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:81014600-81027000	Weak transcription	Brain Germinal Matrix	brain
35	chr16:81014600-81027000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:81014600-81027200	Weak transcription	Fetal Intestine Small	intestine
37	chr16:81014600-81034000	Weak transcription	Fetal Stomach	stomach
38	chr16:81014600-81037600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:81014600-81037600	Weak transcription	Lung	lung
40	chr16:81015200-81025400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:81015200-81026000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:81015200-81030400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:81015200-81030400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr16:81015400-81026800	Weak transcription	Brain Angular Gyrus	brain
45	chr16:81015600-81030000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:81019800-81025000	Enhancers	Liver	Liver
47	chr16:81019800-81026600	Weak transcription	HMEC	breast
48	chr16:81020600-81026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr16:81020600-81026400	Weak transcription	HUVEC	blood vessel
50	chr16:81020800-81025000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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