Variant report

Variant	rs59992453
Chromosome Location	chr16:47121170-47121171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1018171	0.81[EUR][1000 genomes]
rs11859615	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860969	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11862517	0.81[EUR][1000 genomes]
rs13330181	0.81[EUR][1000 genomes]
rs13330194	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330832	0.81[EUR][1000 genomes]
rs13331418	0.81[EUR][1000 genomes]
rs13332032	0.81[EUR][1000 genomes]
rs13332800	0.85[EUR][1000 genomes]
rs13334981	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13335171	0.81[EUR][1000 genomes]
rs13339406	0.81[EUR][1000 genomes]
rs1541589	0.81[EUR][1000 genomes]
rs16952126	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952129	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952174	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952501	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952538	0.93[EUR][1000 genomes]
rs16952589	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952886	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953067	0.93[EUR][1000 genomes]
rs16953992	0.81[EUR][1000 genomes]
rs16954067	0.85[EUR][1000 genomes]
rs16955095	0.81[EUR][1000 genomes]
rs16955781	0.81[EUR][1000 genomes]
rs16956024	0.81[EUR][1000 genomes]
rs16956031	0.81[EUR][1000 genomes]
rs16956083	0.81[EUR][1000 genomes]
rs16956093	0.81[EUR][1000 genomes]
rs2062968	0.81[EUR][1000 genomes]
rs2078256	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231981	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450418	0.81[EUR][1000 genomes]
rs28457669	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532949	0.85[EUR][1000 genomes]
rs28577929	0.81[EUR][1000 genomes]
rs28681341	0.81[EUR][1000 genomes]
rs28840689	0.85[EUR][1000 genomes]
rs28898390	0.81[EUR][1000 genomes]
rs4386162	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56819508	0.81[EUR][1000 genomes]
rs57772915	0.81[EUR][1000 genomes]
rs58837077	0.81[EUR][1000 genomes]
rs59305841	0.93[EUR][1000 genomes]
rs59453301	0.81[EUR][1000 genomes]
rs59547333	0.81[EUR][1000 genomes]
rs60237214	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61078258	0.81[EUR][1000 genomes]
rs6598800	0.93[EUR][1000 genomes]
rs7184206	0.93[EUR][1000 genomes]
rs7185641	0.81[EUR][1000 genomes]
rs7186492	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188942	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197973	0.85[EUR][1000 genomes]
rs7199958	0.81[EUR][1000 genomes]
rs7200149	0.81[EUR][1000 genomes]
rs7201148	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7202975	0.93[EUR][1000 genomes]
rs7206669	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536876	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536884	0.93[EUR][1000 genomes]
rs73536895	0.93[EUR][1000 genomes]
rs73536899	0.93[EUR][1000 genomes]
rs73538910	0.85[EUR][1000 genomes]
rs73538974	0.81[EUR][1000 genomes]
rs73538980	0.81[EUR][1000 genomes]
rs73538991	0.81[EUR][1000 genomes]
rs73538997	0.81[EUR][1000 genomes]
rs73539001	0.81[EUR][1000 genomes]
rs73541004	0.81[EUR][1000 genomes]
rs73541007	0.81[EUR][1000 genomes]
rs73541010	0.81[EUR][1000 genomes]
rs73541086	0.81[EUR][1000 genomes]
rs73541089	0.81[EUR][1000 genomes]
rs73541102	0.81[EUR][1000 genomes]
rs7498593	0.81[EUR][1000 genomes]
rs7499413	0.81[EUR][1000 genomes]
rs8044842	0.85[EUR][1000 genomes]
rs8047754	0.81[EUR][1000 genomes]
rs8048801	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053323	0.81[EUR][1000 genomes]
rs8055882	0.81[EUR][1000 genomes]
rs8063584	0.85[EUR][1000 genomes]
rs9328707	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921947	1.00[EUR][1000 genomes]
rs9922635	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923731	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9926965	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928466	0.89[EUR][1000 genomes]
rs9928688	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935641	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936810	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939920	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1056328	chr16:47011193-47172862	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv1823679	chr16:47089357-47194051	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3415244	chr16:47118533-47121952	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47107400-47138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:47108000-47145600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:47108200-47130000	Weak transcription	Brain Germinal Matrix	brain
4	chr16:47110800-47122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:47110800-47158000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:47111000-47131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:47112000-47132000	Weak transcription	Esophagus	oesophagus
8	chr16:47112000-47144800	Weak transcription	Spleen	Spleen
9	chr16:47113200-47142200	Weak transcription	Hela-S3	cervix
10	chr16:47113400-47141000	Weak transcription	NH-A	brain
11	chr16:47114000-47141000	Weak transcription	HSMM	muscle
12	chr16:47114200-47126600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:47114200-47127200	Weak transcription	K562	blood
14	chr16:47114400-47130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:47114400-47139800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:47114600-47138600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:47114600-47140800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:47114600-47147000	Weak transcription	Brain Anterior Caudate	brain
19	chr16:47114800-47132000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:47115400-47163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:47115600-47123000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:47115600-47131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:47115800-47130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:47116200-47122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:47116200-47123800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:47117400-47123200	Weak transcription	NHLF	lung
27	chr16:47117600-47131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:47117600-47141200	Weak transcription	NHEK	skin
29	chr16:47117600-47170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:47118400-47123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:47118400-47165000	Weak transcription	Fetal Brain Male	brain
32	chr16:47118600-47139600	Weak transcription	HMEC	breast
33	chr16:47119200-47125600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:47119400-47126200	Weak transcription	Fetal Brain Female	brain
35	chr16:47119400-47139800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr16:47119600-47121200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr16:47119600-47122200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr16:47120000-47125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:47120400-47124800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:47120400-47127800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:47120400-47128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:47120600-47122000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:47120600-47122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:47120600-47122800	Weak transcription	A549	lung
45	chr16:47120600-47136600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:47120800-47137400	Weak transcription	GM12878-XiMat	blood

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