Variant report

Variant	rs28898390
Chromosome Location	chr16:47381859-47381860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs1018171	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10521162	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11859615	0.89[EUR][1000 genomes]
rs11860257	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11860969	0.89[EUR][1000 genomes]
rs11861008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862096	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862281	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11862517	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863178	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11865790	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330194	0.86[EUR][1000 genomes]
rs13330510	0.92[EUR][1000 genomes]
rs13330699	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13330832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332058	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13332800	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13332953	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333003	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13334239	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13334342	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334981	0.86[EUR][1000 genomes]
rs13335171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13336943	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338489	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339406	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1541589	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945353	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945354	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945358	1.00[EUR][1000 genomes]
rs16945372	1.00[EUR][1000 genomes]
rs16945379	1.00[EUR][1000 genomes]
rs16945382	1.00[EUR][1000 genomes]
rs16945387	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16945408	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945413	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16945430	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16945438	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16945443	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16952126	0.89[EUR][1000 genomes]
rs16952129	0.89[EUR][1000 genomes]
rs16952174	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952501	0.89[EUR][1000 genomes]
rs16952538	0.89[EUR][1000 genomes]
rs16952589	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952886	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16953067	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16953992	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16954067	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16955095	1.00[EUR][1000 genomes]
rs16955781	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062968	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2078256	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2111226	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2231981	0.89[EUR][1000 genomes]
rs2341961	0.92[EUR][1000 genomes]
rs28450418	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28457669	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28482463	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28532949	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28577929	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597108	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28681341	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880205	0.92[EUR][1000 genomes]
rs28840689	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28844885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4386162	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56268318	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56819508	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56830681	1.00[EUR][1000 genomes]
rs57543382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57772915	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57884999	1.00[EUR][1000 genomes]
rs58251914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58837077	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59305841	0.89[EUR][1000 genomes]
rs59453301	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59547333	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59992453	0.81[EUR][1000 genomes]
rs60200500	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60237214	0.89[EUR][1000 genomes]
rs61078258	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598800	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7184206	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7185641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185915	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186492	0.89[EUR][1000 genomes]
rs7188942	0.89[EUR][1000 genomes]
rs7192537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194190	1.00[EUR][1000 genomes]
rs7194249	1.00[EUR][1000 genomes]
rs7196244	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197659	0.92[EUR][1000 genomes]
rs7197973	0.96[EUR][1000 genomes]
rs7199696	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7199958	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200041	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200554	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201148	0.89[EUR][1000 genomes]
rs7202716	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202975	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7204944	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206669	0.80[EUR][1000 genomes]
rs73534789	0.92[EUR][1000 genomes]
rs73536876	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536884	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536895	0.89[EUR][1000 genomes]
rs73536899	0.89[EUR][1000 genomes]
rs73538910	0.96[EUR][1000 genomes]
rs73538974	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73538980	0.92[EUR][1000 genomes]
rs73538991	0.92[EUR][1000 genomes]
rs73538993	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73538997	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539001	1.00[EUR][1000 genomes]
rs73541004	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541010	1.00[EUR][1000 genomes]
rs73541086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73541102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543111	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73547271	1.00[EUR][1000 genomes]
rs73547284	1.00[EUR][1000 genomes]
rs73547290	1.00[AMR][1000 genomes];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	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551221	0.92[EUR][1000 genomes]
rs73551224	0.85[EUR][1000 genomes]
rs73551228	0.92[EUR][1000 genomes]
rs73551230	0.92[EUR][1000 genomes]
rs73551233	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551238	0.92[EUR][1000 genomes]
rs7498593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7499413	1.00[EUR][1000 genomes]
rs8044842	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8047754	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8048801	0.89[EUR][1000 genomes]
rs8051273	1.00[EUR][1000 genomes]
rs8053323	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055882	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8063584	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9328592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9328707	0.89[EUR][1000 genomes]
rs9921542	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9921947	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9922569	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9922635	0.89[EUR][1000 genomes]
rs9923731	0.89[EUR][1000 genomes]
rs9926490	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926965	0.89[EUR][1000 genomes]
rs9927084	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928466	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9928688	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9932230	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933052	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935427	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9935641	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9936361	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9936810	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9939920	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47368800-47409000	Weak transcription	HepG2	liver
2	chr16:47372000-47397200	Weak transcription	Ovary	ovary
3	chr16:47372000-47397800	Weak transcription	HSMM	muscle
4	chr16:47372000-47403200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:47372000-47426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:47372200-47392800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:47372400-47390400	Weak transcription	Left Ventricle	heart
8	chr16:47373200-47390400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:47377800-47398200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:47379600-47432000	Weak transcription	Fetal Lung	lung
11	chr16:47379800-47383200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:47379800-47404000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:47380000-47409000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:47380400-47397200	Weak transcription	Primary T cells from cord blood	blood
15	chr16:47381000-47382000	ZNF genes & repeats	Aorta	Aorta
16	chr16:47381200-47382000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr16:47381200-47382000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:47381200-47382000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr16:47381200-47388600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:47381400-47382000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:47381600-47382000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:47381600-47397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:47381800-47382400	Weak transcription	Lung	lung

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