Variant report

Variant	rs9939920
Chromosome Location	chr16:47218059-47218060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1018171	0.83[AMR][1000 genomes]
rs11859615	0.89[EUR][1000 genomes]
rs11860257	0.83[AMR][1000 genomes]
rs11860969	0.89[EUR][1000 genomes]
rs11865790	0.81[AMR][1000 genomes]
rs13330181	0.83[AMR][1000 genomes]
rs13330194	0.86[EUR][1000 genomes]
rs13330699	0.83[AMR][1000 genomes]
rs13330832	0.83[AMR][1000 genomes]
rs13331418	0.83[AMR][1000 genomes]
rs13332032	0.83[AMR][1000 genomes]
rs13332800	0.82[EUR][1000 genomes]
rs13333003	0.83[AMR][1000 genomes]
rs13334981	0.86[EUR][1000 genomes]
rs13335171	0.83[AMR][1000 genomes]
rs13338489	0.83[AMR][1000 genomes]
rs13339357	0.83[AMR][1000 genomes]
rs1541589	0.83[AMR][1000 genomes]
rs16945353	0.83[AMR][1000 genomes]
rs16945357	0.83[AMR][1000 genomes]
rs16952126	0.89[EUR][1000 genomes]
rs16952129	0.89[EUR][1000 genomes]
rs16952174	0.89[EUR][1000 genomes]
rs16952501	0.89[EUR][1000 genomes]
rs16952538	0.89[EUR][1000 genomes]
rs16952589	0.89[EUR][1000 genomes]
rs16952886	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16953067	0.89[EUR][1000 genomes]
rs16954067	0.82[EUR][1000 genomes]
rs16956083	0.83[AMR][1000 genomes]
rs2078256	0.89[EUR][1000 genomes]
rs2231981	0.89[EUR][1000 genomes]
rs28450418	0.83[AMR][1000 genomes]
rs28457669	0.89[EUR][1000 genomes]
rs28577929	0.83[AMR][1000 genomes]
rs28681341	0.83[AMR][1000 genomes]
rs28840689	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28898390	0.83[AMR][1000 genomes]
rs4386162	0.89[EUR][1000 genomes]
rs58251914	0.83[AMR][1000 genomes]
rs58837077	0.83[AMR][1000 genomes]
rs59305841	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59992453	0.81[EUR][1000 genomes]
rs60237214	0.89[EUR][1000 genomes]
rs6598800	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7184206	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185641	0.83[AMR][1000 genomes]
rs7186492	0.89[EUR][1000 genomes]
rs7188942	0.89[EUR][1000 genomes]
rs7197586	0.83[AMR][1000 genomes]
rs7197973	0.82[EUR][1000 genomes]
rs7199958	0.83[AMR][1000 genomes]
rs7200149	0.83[AMR][1000 genomes]
rs7201148	0.89[EUR][1000 genomes]
rs7202975	0.89[EUR][1000 genomes]
rs73536876	0.89[EUR][1000 genomes]
rs73536884	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536895	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73536899	0.89[EUR][1000 genomes]
rs73538910	0.82[EUR][1000 genomes]
rs73538974	0.83[AMR][1000 genomes]
rs73543108	0.83[AMR][1000 genomes]
rs73543111	0.83[AMR][1000 genomes]
rs8044842	0.82[EUR][1000 genomes]
rs8047754	0.83[AMR][1000 genomes]
rs8048801	0.89[EUR][1000 genomes]
rs8053323	0.83[AMR][1000 genomes]
rs8055882	0.83[AMR][1000 genomes]
rs8063584	0.82[EUR][1000 genomes]
rs9328707	0.89[EUR][1000 genomes]
rs9921947	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9922635	0.89[EUR][1000 genomes]
rs9923731	0.89[EUR][1000 genomes]
rs9926965	0.89[EUR][1000 genomes]
rs9927084	0.83[AMR][1000 genomes]
rs9928466	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9928688	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9932230	0.83[AMR][1000 genomes]
rs9935641	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9936810	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
4	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
5	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
6	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv1801639	chr16:47177234-47224693	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	esv1801751	chr16:47177234-47224693	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1838902	chr16:47177234-47234379	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1850542	chr16:47177234-47234379	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1795119	chr16:47177300-47224693	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv1841006	chr16:47177300-47271876	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	esv1848820	chr16:47177300-47271876	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv1799115	chr16:47177338-47224693	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	esv1801259	chr16:47188507-47252682	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv525170	chr16:47194051-47303635	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47231400	Weak transcription	Psoas Muscle	Psoas
2	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:47186600-47231400	Weak transcription	Aorta	Aorta
4	chr16:47187800-47223800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:47187800-47243800	Weak transcription	HSMM	muscle
6	chr16:47191200-47221400	Weak transcription	K562	blood
7	chr16:47192000-47252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:47192400-47218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:47192400-47231800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr16:47194800-47231000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:47195400-47244200	Weak transcription	Liver	Liver
12	chr16:47209800-47232000	Weak transcription	Gastric	stomach
13	chr16:47210000-47222800	Weak transcription	Ovary	ovary
14	chr16:47210600-47240200	Weak transcription	Primary B cells from cord blood	blood
15	chr16:47216800-47225800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:47216800-47230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:47216800-47247200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:47217200-47243600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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