Variant report

Variant	rs290580
Chromosome Location	chr19:23220742-23220743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1037993	0.81[ASN][1000 genomes]
rs1037995	0.81[ASN][1000 genomes]
rs10402689	0.81[ASN][1000 genomes]
rs10405359	0.81[ASN][1000 genomes]
rs10407421	0.81[ASN][1000 genomes]
rs10410109	0.83[ASN][1000 genomes]
rs10410470	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10412285	0.81[ASN][1000 genomes]
rs10418414	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11666194	0.81[ASN][1000 genomes]
rs11668192	0.81[ASN][1000 genomes]
rs12978716	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1381880	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471392	0.83[ASN][1000 genomes]
rs1551844	0.82[ASN][1000 genomes]
rs158692	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs158695	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1603550	0.81[ASN][1000 genomes]
rs1645774	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1645775	0.95[EUR][1000 genomes]
rs167034	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs176456	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs188343	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1908940	0.81[ASN][1000 genomes]
rs1908942	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2014522	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2014524	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2085999	0.81[ASN][1000 genomes]
rs2126615	0.99[ASN][1000 genomes]
rs2169590	0.81[ASN][1000 genomes]
rs2219721	0.81[ASN][1000 genomes]
rs2362806	0.85[ASN][1000 genomes]
rs2453972	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2463795	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2548888	0.94[EUR][1000 genomes]
rs2548897	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2645878	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs289287	0.87[EUR][1000 genomes]
rs289288	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs289290	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289291	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289293	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs289294	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289295	0.89[EUR][1000 genomes]
rs289297	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289298	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289299	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289300	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289301	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289302	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs289303	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289304	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289305	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289307	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs289308	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289309	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289310	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289311	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289313	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289314	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs289315	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289316	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289317	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs289318	0.91[EUR][1000 genomes]
rs289319	0.87[EUR][1000 genomes]
rs289320	0.91[EUR][1000 genomes]
rs289321	0.90[EUR][1000 genomes]
rs289322	0.90[EUR][1000 genomes]
rs289323	0.90[EUR][1000 genomes]
rs289324	0.90[EUR][1000 genomes]
rs289325	0.87[EUR][1000 genomes]
rs289326	0.90[EUR][1000 genomes]
rs289327	0.90[EUR][1000 genomes]
rs289328	0.90[EUR][1000 genomes]
rs289329	0.90[EUR][1000 genomes]
rs289331	0.90[EUR][1000 genomes]
rs290577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs290578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290582	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291769	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291770	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291773	0.95[EUR][1000 genomes]
rs2927364	0.86[ASN][1000 genomes]
rs2927368	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2935433	0.81[ASN][1000 genomes]
rs2935440	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2935442	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2935443	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2935446	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2963053	0.86[ASN][1000 genomes]
rs2963054	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2963057	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2963058	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2963059	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2963071	0.83[ASN][1000 genomes]
rs399132	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs424913	0.82[EUR][1000 genomes]
rs431585	0.86[EUR][1000 genomes]
rs440580	0.82[EUR][1000 genomes]
rs452404	0.84[EUR][1000 genomes]
rs453743	0.81[EUR][1000 genomes]
rs457149	0.87[EUR][1000 genomes]
rs457599	0.87[EUR][1000 genomes]
rs460336	0.84[EUR][1000 genomes]
rs461390	0.86[EUR][1000 genomes]
rs462900	0.87[EUR][1000 genomes]
rs465933	0.86[EUR][1000 genomes]
rs466223	0.87[EUR][1000 genomes]
rs467101	0.87[EUR][1000 genomes]
rs55784046	0.85[ASN][1000 genomes]
rs56025038	0.85[ASN][1000 genomes]
rs58521262	0.82[ASN][1000 genomes]
rs58704317	0.85[ASN][1000 genomes]
rs60836997	0.85[ASN][1000 genomes]
rs62121598	0.82[ASN][1000 genomes]
rs7247102	0.81[ASN][1000 genomes]
rs771351	0.83[ASN][1000 genomes]
rs771354	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs771358	0.83[ASN][1000 genomes]
rs771359	0.83[ASN][1000 genomes]
rs771362	0.82[ASN][1000 genomes]
rs9676943	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv819194	chr19:22336264-23223696	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	esv3334022	chr19:22902355-23244643	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
4	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
6	nsv1058070	chr19:22994261-23315207	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv817826	chr19:23000745-23620632	Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
8	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
9	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
10	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
11	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
12	esv3424935	chr19:23111817-23495542	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	esv3427443	chr19:23114406-23283406	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv3504832	chr19:23114495-23397124	Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	esv3504833	chr19:23114495-23397124	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv911457	chr19:23124745-23228257	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv1059365	chr19:23134397-23293848	Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065637	chr19:23138735-23298263	Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv1836418	chr19:23140885-23223046	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1840455	chr19:23141210-23223046	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv469842	chr19:23164234-23322414	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv482669	chr19:23164234-23322414	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv932212	chr19:23170413-23372286	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	esv3413015	chr19:23172466-23416111	Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
25	nsv833788	chr19:23179045-23328665	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv432041	chr19:23190534-23260883	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	nsv2445	chr19:23204717-23237129	ZNF genes & repeats Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv1841451	chr19:23216667-23223046	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
29	esv11185	chr19:23216708-23223107	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv821052	chr19:23216708-23223526	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
31	nsv1066742	chr19:23217251-23296227	Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
32	nsv543960	chr19:23217251-23296227	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	esv18320	chr19:23218045-23223456	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
34	nsv828510	chr19:23218487-23222278	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23219000-23222000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:23220200-23221400	Enhancers	Fetal Heart	heart
3	chr19:23220400-23220800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links