Variant report

Variant	rs73539001
Chromosome Location	chr16:47325247-47325248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

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]
rs11863178	0.92[EUR][1000 genomes]
rs11865790	0.96[EUR][1000 genomes]
rs13330181	1.00[EUR][1000 genomes]
rs13330194	0.86[EUR][1000 genomes]
rs13330699	1.00[EUR][1000 genomes]
rs13330832	1.00[EUR][1000 genomes]
rs13331418	1.00[EUR][1000 genomes]
rs13332032	1.00[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]
rs13334342	1.00[EUR][1000 genomes]
rs13334981	0.86[EUR][1000 genomes]
rs13335171	1.00[EUR][1000 genomes]
rs13336943	1.00[EUR][1000 genomes]
rs13338489	1.00[EUR][1000 genomes]
rs13339357	1.00[EUR][1000 genomes]
rs13339406	0.92[EUR][1000 genomes]
rs1541589	1.00[EUR][1000 genomes]
rs16945353	1.00[EUR][1000 genomes]
rs16945354	1.00[EUR][1000 genomes]
rs16945357	1.00[EUR][1000 genomes]
rs16945358	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945372	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945379	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945382	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945408	1.00[EUR][1000 genomes]
rs16945413	0.92[EUR][1000 genomes]
rs16952126	0.89[EUR][1000 genomes]
rs16952129	0.89[EUR][1000 genomes]
rs16952174	0.89[EUR][1000 genomes]
rs16952501	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952589	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952886	0.89[EUR][1000 genomes]
rs16953067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16953992	0.92[EUR][1000 genomes]
rs16954067	0.96[EUR][1000 genomes]
rs16955095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956024	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956083	1.00[EUR][1000 genomes]
rs16956093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062968	0.92[EUR][1000 genomes]
rs2078256	0.90[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]
rs28457669	0.89[EUR][1000 genomes]
rs28482463	1.00[EUR][1000 genomes]
rs28532949	0.96[EUR][1000 genomes]
rs28566542	1.00[EUR][1000 genomes]
rs28577929	1.00[EUR][1000 genomes]
rs28681341	1.00[EUR][1000 genomes]
rs28840689	0.96[EUR][1000 genomes]
rs28844885	1.00[EUR][1000 genomes]
rs28898390	1.00[EUR][1000 genomes]
rs4386162	0.89[EUR][1000 genomes]
rs56819508	1.00[EUR][1000 genomes]
rs56830681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57543382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57772915	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57884999	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58251914	1.00[EUR][1000 genomes]
rs58837077	0.92[EUR][1000 genomes]
rs59305841	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59453301	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59547333	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59992453	0.81[EUR][1000 genomes]
rs60200500	0.92[EUR][1000 genomes]
rs60237214	0.89[EUR][1000 genomes]
rs61078258	0.82[AMR][1000 genomes];1.00[EUR][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]
rs7194190	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194249	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196244	1.00[EUR][1000 genomes]
rs7197586	1.00[EUR][1000 genomes]
rs7197973	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7199958	1.00[EUR][1000 genomes]
rs7200041	1.00[EUR][1000 genomes]
rs7200149	1.00[EUR][1000 genomes]
rs7200554	1.00[EUR][1000 genomes]
rs7201148	0.89[EUR][1000 genomes]
rs7202716	1.00[EUR][1000 genomes]
rs7202975	0.89[EUR][1000 genomes]
rs7204944	1.00[EUR][1000 genomes]
rs7206669	0.80[EUR][1000 genomes]
rs73536876	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536884	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536895	0.87[AFR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73538991	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73538993	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73538997	1.00[EUR][1000 genomes]
rs73541004	1.00[EUR][1000 genomes]
rs73541007	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73541010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73541086	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73541089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73541102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543108	1.00[EUR][1000 genomes]
rs73543111	1.00[EUR][1000 genomes]
rs73543118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547284	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547290	1.00[EUR][1000 genomes]
rs73549309	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549315	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549319	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549387	1.00[EUR][1000 genomes]
rs73551204	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7498593	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7499413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8044842	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8047754	0.92[EUR][1000 genomes]
rs8048801	0.89[EUR][1000 genomes]
rs8051273	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053323	1.00[EUR][1000 genomes]
rs8055882	0.92[EUR][1000 genomes]
rs8063584	0.96[EUR][1000 genomes]
rs9328592	1.00[EUR][1000 genomes]
rs9328707	0.95[AMR][1000 genomes];0.89[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]
rs9928466	0.86[EUR][1000 genomes]
rs9928688	0.89[EUR][1000 genomes]
rs9932230	1.00[EUR][1000 genomes]
rs9933052	1.00[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:16 , 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	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
4	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
5	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
6	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
7	esv1821089	chr16:47223418-47330244	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1832105	chr16:47223418-47347780	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47230000-47332600	Weak transcription	Thymus	Thymus
2	chr16:47292200-47345600	Weak transcription	K562	blood
3	chr16:47294600-47332600	Weak transcription	Pancreas	Pancrea
4	chr16:47294800-47332600	Weak transcription	Ovary	ovary
5	chr16:47297600-47333200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:47305400-47332400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr16:47305400-47332400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:47307200-47332400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr16:47307400-47325600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr16:47311400-47341800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:47311400-47362200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:47314000-47333800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:47317400-47332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:47317800-47332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:47318000-47332600	Weak transcription	Right Ventricle	heart
16	chr16:47318000-47332600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:47318000-47345600	Weak transcription	Brain Angular Gyrus	brain
18	chr16:47318000-47345600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:47318000-47354200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:47318200-47332400	Weak transcription	Primary B cells from cord blood	blood
21	chr16:47318200-47345000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:47318400-47332600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:47318600-47346000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:47319200-47332400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:47319400-47332600	Weak transcription	Placenta	Placenta
26	chr16:47319400-47348200	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:47319600-47332600	Weak transcription	Fetal Stomach	stomach
28	chr16:47319600-47350400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:47320000-47332400	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:47320000-47332600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr16:47320000-47332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:47320000-47332600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:47320000-47332600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:47320000-47332600	Weak transcription	Dnd41	blood
35	chr16:47320000-47344000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:47320200-47332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr16:47322000-47347600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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