Variant report

Variant	rs7498593
Chromosome Location	chr16:47358821-47358822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs1018171	0.92[EUR][1000 genomes]
rs11859615	0.89[EUR][1000 genomes]
rs11860257	1.00[EUR][1000 genomes]
rs11860969	0.89[EUR][1000 genomes]
rs11861008	1.00[EUR][1000 genomes]
rs11862096	1.00[EUR][1000 genomes]
rs11862517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863178	0.92[EUR][1000 genomes]
rs11865790	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330194	0.86[EUR][1000 genomes]
rs13330699	1.00[EUR][1000 genomes]
rs13330832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332058	0.92[EUR][1000 genomes]
rs13332800	0.96[EUR][1000 genomes]
rs13332953	1.00[EUR][1000 genomes]
rs13333003	0.81[EUR][1000 genomes]
rs13334239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13334342	1.00[EUR][1000 genomes]
rs13334981	0.86[EUR][1000 genomes]
rs13335171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336943	1.00[EUR][1000 genomes]
rs13338489	1.00[EUR][1000 genomes]
rs13339357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339406	0.92[EUR][1000 genomes]
rs1541589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945357	1.00[EUR][1000 genomes]
rs16945358	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945372	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945379	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945382	1.00[EUR][1000 genomes]
rs16945408	1.00[EUR][1000 genomes]
rs16945413	0.92[EUR][1000 genomes]
rs16945430	0.89[EUR][1000 genomes]
rs16952126	0.89[EUR][1000 genomes]
rs16952129	0.89[EUR][1000 genomes]
rs16952174	0.89[EUR][1000 genomes]
rs16952501	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952538	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952589	0.89[EUR][1000 genomes]
rs16952886	0.89[EUR][1000 genomes]
rs16953067	0.89[EUR][1000 genomes]
rs16953992	0.92[EUR][1000 genomes]
rs16954067	0.96[EUR][1000 genomes]
rs16955095	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955781	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956031	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956093	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062968	0.92[EUR][1000 genomes]
rs2078256	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2111226	0.96[EUR][1000 genomes]
rs2231981	0.89[EUR][1000 genomes]
rs28450418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28457669	0.89[EUR][1000 genomes]
rs28482463	1.00[EUR][1000 genomes]
rs28532949	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566542	1.00[EUR][1000 genomes]
rs28577929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597108	0.92[EUR][1000 genomes]
rs28681341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28840689	0.96[EUR][1000 genomes]
rs28844885	1.00[EUR][1000 genomes]
rs28898390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386162	0.89[EUR][1000 genomes]
rs56268318	0.92[EUR][1000 genomes]
rs56819508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56830681	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57543382	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57772915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57884999	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58251914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58837077	0.92[EUR][1000 genomes]
rs59305841	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59453301	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59547333	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59992453	0.81[EUR][1000 genomes]
rs60200500	0.92[EUR][1000 genomes]
rs60237214	0.89[EUR][1000 genomes]
rs61078258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598800	0.89[EUR][1000 genomes]
rs7184206	0.89[EUR][1000 genomes]
rs7185641	1.00[EUR][1000 genomes]
rs7185915	1.00[EUR][1000 genomes]
rs7186492	0.89[EUR][1000 genomes]
rs7188942	0.89[EUR][1000 genomes]
rs7192537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194190	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194249	1.00[EUR][1000 genomes]
rs7196244	1.00[EUR][1000 genomes]
rs7197586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197659	0.92[EUR][1000 genomes]
rs7197973	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7199696	0.92[EUR][1000 genomes]
rs7199958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200149	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200554	1.00[EUR][1000 genomes]
rs7201148	0.89[EUR][1000 genomes]
rs7202716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202975	0.89[EUR][1000 genomes]
rs7204944	1.00[EUR][1000 genomes]
rs7206669	0.80[EUR][1000 genomes]
rs73536876	0.89[EUR][1000 genomes]
rs73536884	0.89[EUR][1000 genomes]
rs73536895	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536899	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73538910	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73538974	0.92[EUR][1000 genomes]
rs73538980	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73538991	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73538993	0.89[EUR][1000 genomes]
rs73538997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73541004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541010	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73541086	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541089	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543118	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73547271	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547284	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547290	1.00[EUR][1000 genomes]
rs73549309	1.00[EUR][1000 genomes]
rs73549315	1.00[EUR][1000 genomes]
rs73549319	1.00[EUR][1000 genomes]
rs73549387	1.00[EUR][1000 genomes]
rs73551204	1.00[EUR][1000 genomes]
rs73551214	0.92[EUR][1000 genomes]
rs73551221	0.92[EUR][1000 genomes]
rs73551224	0.85[EUR][1000 genomes]
rs73551228	0.92[EUR][1000 genomes]
rs73551230	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7499413	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8044842	0.96[EUR][1000 genomes]
rs8047754	0.92[EUR][1000 genomes]
rs8048801	0.89[EUR][1000 genomes]
rs8051273	1.00[EUR][1000 genomes]
rs8053323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055882	0.92[EUR][1000 genomes]
rs8063584	0.96[EUR][1000 genomes]
rs9328592	1.00[EUR][1000 genomes]
rs9328707	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9921542	0.92[EUR][1000 genomes]
rs9921947	0.81[EUR][1000 genomes]
rs9922569	1.00[EUR][1000 genomes]
rs9922635	0.89[EUR][1000 genomes]
rs9923731	0.89[EUR][1000 genomes]
rs9926490	1.00[EUR][1000 genomes]
rs9926965	0.89[EUR][1000 genomes]
rs9927084	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928466	0.86[EUR][1000 genomes]
rs9928688	0.89[EUR][1000 genomes]
rs9932230	1.00[EUR][1000 genomes]
rs9933052	1.00[EUR][1000 genomes]
rs9935427	0.92[EUR][1000 genomes]
rs9935641	0.89[EUR][1000 genomes]
rs9936361	1.00[EUR][1000 genomes]
rs9936810	0.89[EUR][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	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
2	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
3	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
4	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
6	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv960005	chr16:47357975-47371647	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47311400-47362200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:47333400-47371600	Weak transcription	Esophagus	oesophagus
3	chr16:47334400-47371200	Weak transcription	Aorta	Aorta
4	chr16:47334400-47371600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:47334400-47371600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:47334600-47372800	Weak transcription	Primary T cells from cord blood	blood
7	chr16:47342800-47364800	Weak transcription	Primary B cells from cord blood	blood
8	chr16:47344600-47371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:47344800-47370200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:47346200-47371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:47346400-47371400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:47346400-47371400	Weak transcription	Dnd41	blood
13	chr16:47346400-47371400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr16:47346800-47371600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:47350600-47371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:47351400-47370200	Weak transcription	Ovary	ovary
17	chr16:47355200-47371600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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