Variant report

Variant	rs4318808
Chromosome Location	chr5:96914281-96914282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10041715	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10045335	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10045922	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10076476	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10476720	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10476723	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10476724	0.93[EUR][1000 genomes]
rs10476725	0.93[EUR][1000 genomes]
rs10515257	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10515258	0.86[ASN][1000 genomes]
rs11135520	0.97[ASN][1000 genomes]
rs11955062	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11957034	0.97[ASN][1000 genomes]
rs11958000	0.97[ASN][1000 genomes]
rs11958672	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11958735	0.97[ASN][1000 genomes]
rs11958753	0.97[ASN][1000 genomes]
rs11958897	0.97[ASN][1000 genomes]
rs11959303	0.96[ASN][1000 genomes]
rs11960434	0.97[ASN][1000 genomes]
rs12153467	0.97[ASN][1000 genomes]
rs12153708	0.95[ASN][1000 genomes]
rs12186898	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12651707	0.97[ASN][1000 genomes]
rs12652555	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652654	0.98[ASN][1000 genomes]
rs12653010	0.87[ASN][1000 genomes]
rs12653049	0.97[ASN][1000 genomes]
rs12653090	0.97[ASN][1000 genomes]
rs12653530	0.85[ASN][1000 genomes]
rs12653533	0.97[ASN][1000 genomes]
rs12653710	0.92[ASN][1000 genomes]
rs12653789	0.98[ASN][1000 genomes]
rs12654248	0.98[ASN][1000 genomes]
rs12654249	0.98[ASN][1000 genomes]
rs12654331	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654570	0.98[ASN][1000 genomes]
rs12654904	0.97[ASN][1000 genomes]
rs12655451	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12655664	0.98[ASN][1000 genomes]
rs12656115	0.87[ASN][1000 genomes]
rs12656998	0.97[ASN][1000 genomes]
rs12657000	0.97[ASN][1000 genomes]
rs12657405	0.97[ASN][1000 genomes]
rs12658079	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1367043	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1560323	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1560325	0.87[ASN][1000 genomes]
rs1560327	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17087644	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17087647	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17087649	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17087684	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17087722	0.86[ASN][1000 genomes]
rs2930824	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2930825	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972980	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972982	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4280898	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4370300	0.98[ASN][1000 genomes]
rs4370301	0.98[ASN][1000 genomes]
rs4371782	0.98[ASN][1000 genomes]
rs4499855	0.98[ASN][1000 genomes]
rs4565234	0.98[ASN][1000 genomes]
rs4591774	0.98[ASN][1000 genomes]
rs4869169	0.96[ASN][1000 genomes]
rs4869170	0.96[ASN][1000 genomes]
rs4869171	0.97[ASN][1000 genomes]
rs4869172	0.97[ASN][1000 genomes]
rs4869173	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869175	0.95[ASN][1000 genomes]
rs4869176	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4869177	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4869178	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4869362	0.98[ASN][1000 genomes]
rs4869363	0.98[ASN][1000 genomes]
rs4869364	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869366	0.97[ASN][1000 genomes]
rs4869367	0.97[ASN][1000 genomes]
rs4869368	0.97[ASN][1000 genomes]
rs4869369	0.97[ASN][1000 genomes]
rs4869370	0.97[ASN][1000 genomes]
rs4869380	0.95[ASN][1000 genomes]
rs4869381	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869383	0.93[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4869384	0.87[ASN][1000 genomes]
rs4869385	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4869386	0.87[ASN][1000 genomes]
rs4869387	0.87[ASN][1000 genomes]
rs5009275	0.97[ASN][1000 genomes]
rs55869407	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55876261	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930551	0.95[ASN][1000 genomes]
rs56159846	0.98[ASN][1000 genomes]
rs56313483	0.98[ASN][1000 genomes]
rs56691285	0.87[ASN][1000 genomes]
rs57093667	0.97[ASN][1000 genomes]
rs58434977	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58789574	0.96[ASN][1000 genomes]
rs58960401	0.97[ASN][1000 genomes]
rs59482420	0.97[ASN][1000 genomes]
rs59745660	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60521916	0.97[ASN][1000 genomes]
rs60859704	0.97[ASN][1000 genomes]
rs61009572	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61120732	0.97[ASN][1000 genomes]
rs61501692	0.87[ASN][1000 genomes]
rs6556995	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6866014	0.97[ASN][1000 genomes]
rs6876977	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6879692	0.97[ASN][1000 genomes]
rs6887204	0.93[EUR][1000 genomes]
rs6898692	0.93[EUR][1000 genomes]
rs72766393	0.90[ASN][1000 genomes]
rs72766401	0.98[ASN][1000 genomes]
rs72768203	0.88[EUR][1000 genomes]
rs72768207	0.98[ASN][1000 genomes]
rs72768209	0.98[ASN][1000 genomes]
rs72768210	0.98[ASN][1000 genomes]
rs72768213	0.97[ASN][1000 genomes]
rs72768215	0.97[ASN][1000 genomes]
rs72768216	0.97[ASN][1000 genomes]
rs72768217	0.97[ASN][1000 genomes]
rs72768218	0.97[ASN][1000 genomes]
rs72768220	0.97[ASN][1000 genomes]
rs72768222	0.97[ASN][1000 genomes]
rs72768223	0.97[ASN][1000 genomes]
rs72768233	0.98[ASN][1000 genomes]
rs72768239	0.97[ASN][1000 genomes]
rs72768240	0.98[ASN][1000 genomes]
rs72768242	0.97[ASN][1000 genomes]
rs72768248	0.98[ASN][1000 genomes]
rs72768249	0.98[ASN][1000 genomes]
rs72768250	0.98[ASN][1000 genomes]
rs72774085	0.98[ASN][1000 genomes]
rs72774086	0.98[ASN][1000 genomes]
rs72774088	0.98[ASN][1000 genomes]
rs72774094	0.98[ASN][1000 genomes]
rs72775904	0.97[ASN][1000 genomes]
rs72775906	0.97[ASN][1000 genomes]
rs72775909	0.97[ASN][1000 genomes]
rs72775911	0.96[ASN][1000 genomes]
rs72775913	0.97[ASN][1000 genomes]
rs72775914	0.97[ASN][1000 genomes]
rs72775917	0.95[ASN][1000 genomes]
rs72775919	0.95[ASN][1000 genomes]
rs72775920	0.97[ASN][1000 genomes]
rs72775921	0.98[ASN][1000 genomes]
rs72775922	0.98[ASN][1000 genomes]
rs72775924	0.98[ASN][1000 genomes]
rs72775925	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775952	0.98[ASN][1000 genomes]
rs72775953	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72775954	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72775955	0.98[ASN][1000 genomes]
rs72775957	0.97[ASN][1000 genomes]
rs72775958	0.94[ASN][1000 genomes]
rs72775963	0.95[ASN][1000 genomes]
rs72775966	0.95[ASN][1000 genomes]
rs72775977	0.87[ASN][1000 genomes]
rs72775979	0.87[ASN][1000 genomes]
rs72775982	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72775984	0.87[ASN][1000 genomes]
rs72775990	0.87[ASN][1000 genomes]
rs72775991	0.87[ASN][1000 genomes]
rs72775992	0.87[ASN][1000 genomes]
rs72775998	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7703706	0.93[EUR][1000 genomes]
rs7709402	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7721614	0.93[EUR][1000 genomes]
rs7722060	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9314213	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314214	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9968766	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription 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	24 gene(s)	inside rSNPs	diseases
3	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1022046	chr5:96757900-97046804	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1031429	chr5:96777286-97269498	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv527650	chr5:96783726-97260358	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1028224	chr5:96791214-97258383	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv537814	chr5:96791214-97258383	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv830416	chr5:96817328-96958233	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv882396	chr5:96849023-97126520	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv882397	chr5:96856849-96991565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv882398	chr5:96856849-97051163	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2422198	chr5:96889331-97015454	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2422222	chr5:96889331-97015454	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv2422224	chr5:96889331-97015454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv1023404	chr5:96889534-97071074	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96914200-96914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:96914200-96914600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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