Variant report

Variant	rs13336629
Chromosome Location	chr16:81005806-81005807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81004010..81005994-chr16:81040056..81041690,2	K562	blood:
2	chr16:81001788..81003366-chr16:81003777..81008120,3	K562	blood:
3	chr16:81005392..81007770-chr16:81008815..81010427,2	K562	blood:
4	chr16:81005749..81007620-chr16:81026993..81029850,2	K562	blood:

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs11150334	0.89[EUR][1000 genomes]
rs1127390	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11866375	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11866803	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12446304	0.88[EUR][1000 genomes]
rs12446810	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12448656	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13331118	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13332890	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13332902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13334887	0.88[EUR][1000 genomes]
rs13336292	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1453327	0.91[EUR][1000 genomes]
rs1453328	0.91[EUR][1000 genomes]
rs1469123	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1469124	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1469125	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1469126	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1477381	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16944339	0.90[ASN][1000 genomes]
rs16944345	0.92[ASN][1000 genomes]
rs1964298	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2098726	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2113196	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2113197	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2123627	0.84[AMR][1000 genomes]
rs2167889	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2194321	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2216753	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2244452	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287991	0.83[EUR][1000 genomes]
rs2316923	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549828	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2549833	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2549835	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549836	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549837	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549838	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549839	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549840	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2549841	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549842	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549843	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549844	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2549846	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549847	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549848	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549852	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549853	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549854	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549855	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549856	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549857	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2549858	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2549859	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2549861	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549863	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549865	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2549866	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2549867	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549868	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2549869	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2549870	0.81[ASN][1000 genomes]
rs2549871	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2549872	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2549879	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2549883	0.91[EUR][1000 genomes]
rs2549886	0.86[EUR][1000 genomes]
rs2549887	0.87[EUR][1000 genomes]
rs2549888	0.87[EUR][1000 genomes]
rs2602409	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602410	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602411	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602412	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602413	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602414	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602416	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602417	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602418	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602419	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602423	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602424	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2602426	0.87[EUR][1000 genomes]
rs2602433	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2602434	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602435	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602436	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602437	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602440	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602441	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602443	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2602446	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2602448	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602449	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602453	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2911148	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2911150	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2911151	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2970079	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2970081	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2970083	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2970084	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2970085	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2970086	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3112035	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3112036	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3784814	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3826048	0.91[EUR][1000 genomes]
rs55776427	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306230	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60779117	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564814	0.91[EUR][1000 genomes]
rs66516157	0.87[EUR][1000 genomes]
rs71400133	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7196960	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs874053	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874054	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9888895	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9889194	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9921448	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921914	0.91[EUR][1000 genomes]
rs9923948	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9925780	0.83[EUR][1000 genomes]
rs9931292	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9932857	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9934957	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9936366	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9937731	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9938541	0.88[EUR][1000 genomes];0.81[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13336629	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80989400-81008800	Weak transcription	Gastric	stomach
2	chr16:80994600-81007800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
4	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80996000-81007400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:80996200-81008600	Weak transcription	Aorta	Aorta
7	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:80997800-81008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:80998000-81009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:80998200-81009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:80998200-81013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:80998600-81008000	Weak transcription	NHDF-Ad	bronchial
14	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:81000200-81006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:81000200-81007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:81000200-81008000	Weak transcription	NHEK	skin
18	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:81001200-81007600	Weak transcription	Primary B cells from cord blood	blood
20	chr16:81001200-81008200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:81001200-81008600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:81001200-81008800	Weak transcription	Spleen	Spleen
23	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:81001400-81006400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:81001400-81006600	Weak transcription	Left Ventricle	heart
26	chr16:81001400-81008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:81001400-81010200	Weak transcription	Colonic Mucosa	Colon
28	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
29	chr16:81001400-81026400	Weak transcription	NHLF	lung
30	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:81001600-81006400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:81001600-81006800	Weak transcription	Fetal Intestine Small	intestine
33	chr16:81001600-81007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:81001600-81007600	Weak transcription	Fetal Muscle Leg	muscle
35	chr16:81001600-81008600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr16:81001600-81008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:81001800-81006800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:81001800-81008800	Weak transcription	Ovary	ovary
39	chr16:81002000-81007600	Weak transcription	Placenta	Placenta
40	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
41	chr16:81002200-81006000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:81002200-81008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:81002400-81007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:81002400-81007800	Weak transcription	K562	blood
45	chr16:81002400-81008600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:81002600-81007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:81002600-81008200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:81002600-81008800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr16:81002600-81008800	Weak transcription	Thymus	Thymus

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