Variant report

Variant	rs2318455
Chromosome Location	chr3:162217232-162217233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10084695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1026691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1026693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10460867	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10936280	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10936281	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10936282	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10936283	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11712285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927487	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12696149	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1382204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1471415	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1478142	0.83[EUR][1000 genomes]
rs1478145	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1478147	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2061735	0.82[EUR][1000 genomes]
rs2199604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2405505	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2405506	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2405740	0.94[AMR][1000 genomes]
rs2405750	0.97[AMR][1000 genomes]
rs2405753	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2405754	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28567923	0.85[AMR][1000 genomes]
rs28667121	0.85[AMR][1000 genomes]
rs2897152	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3853161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3853162	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3863256	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3907216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3912100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4263305	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4296607	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4296608	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4296609	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4449332	1.00[AMR][1000 genomes]
rs4482675	0.94[AMR][1000 genomes]
rs4621344	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856629	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856630	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856631	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856632	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856633	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856682	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6441452	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6441454	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6441459	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6441460	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6441461	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6441462	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6441463	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6764843	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6765996	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6766883	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6766973	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6770434	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6775708	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6776864	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6776986	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6777189	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6789202	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6791605	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6795724	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6796376	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6798305	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6799150	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6801086	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6801492	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6801686	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7633312	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7648533	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9290119	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9813453	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9813595	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9813898	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9817021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9819929	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9868667	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9869267	0.94[AMR][1000 genomes]
rs9875471	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9879717	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs993391	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs993392	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877721	chr3:161878713-162303276	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1006802	chr3:161921063-162599175	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv877728	chr3:162085820-162236885	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv877732	chr3:162113116-162236885	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv877735	chr3:162123179-162380954	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv592175	chr3:162130691-162226534	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv460931	chr3:162130691-162227870	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv592176	chr3:162130691-162227870	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv460932	chr3:162130691-162238239	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv592177	chr3:162130691-162238239	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv592178	chr3:162130691-162251934	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv877736	chr3:162131408-162227870	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv592182	chr3:162131408-162238239	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv877737	chr3:162132155-162242541	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv592189	chr3:162133075-162226117	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv877738	chr3:162138826-162236885	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv428424	chr3:162145988-163033943	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv877739	chr3:162159287-162229584	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv877740	chr3:162159287-162236885	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv877741	chr3:162159287-162236885	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv877742	chr3:162159287-162239185	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv877743	chr3:162177290-162236885	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv1012160	chr3:162182166-162540478	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv2757020	chr3:162183462-162226821	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	esv2759196	chr3:162183462-162226821	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv1000912	chr3:162186601-162311128	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv592201	chr3:162188625-163142162	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv877744	chr3:162198135-162236885	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv877745	chr3:162198135-162237669	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv877746	chr3:162203013-162236885	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv877747	chr3:162203013-162237669	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv877748	chr3:162208062-162236885	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv877749	chr3:162208062-162238239	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv877750	chr3:162208062-162239185	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv877751	chr3:162208062-162239185	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv877752	chr3:162208062-162242541	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv10344	chr3:162210267-162235802	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv829775	chr3:162211618-162406402	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	esv8195	chr3:162213459-162235719	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv3463589	chr3:162213577-162235708	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv3463590	chr3:162213624-162235677	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv3463591	chr3:162213706-162235599	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv2421579	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv460935	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv460936	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv460937	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv460938	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv460940	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv460941	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv460942	chr3:162213876-162229584	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162217200-162217400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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