Variant report

Variant	rs72775957
Chromosome Location	chr5:96965445-96965446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10041715	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10045335	0.97[ASN][1000 genomes]
rs10076476	0.96[ASN][1000 genomes]
rs10476720	0.95[ASN][1000 genomes]
rs10476723	0.93[ASN][1000 genomes]
rs10515257	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10515258	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10866785	0.93[EUR][1000 genomes]
rs11135520	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11955062	0.88[ASN][1000 genomes]
rs11957034	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11958000	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11958672	0.88[ASN][1000 genomes]
rs11958735	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11958753	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11958897	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11959303	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11960434	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153467	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153708	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12186898	0.88[ASN][1000 genomes]
rs12651707	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652555	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12652654	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12653010	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12653049	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653090	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653530	0.86[ASN][1000 genomes]
rs12653533	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653710	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653789	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654248	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654249	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654331	0.88[ASN][1000 genomes]
rs12654570	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654904	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655451	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12655664	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12656115	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656998	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657000	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12657405	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12658079	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1367043	0.88[ASN][1000 genomes]
rs1560325	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17087644	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17087647	0.98[ASN][1000 genomes]
rs17087649	0.96[ASN][1000 genomes]
rs17087684	0.88[ASN][1000 genomes]
rs17087722	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2930824	0.84[ASN][1000 genomes]
rs2930825	0.84[ASN][1000 genomes]
rs2972980	0.88[ASN][1000 genomes]
rs2972982	0.82[ASN][1000 genomes]
rs4280898	0.88[ASN][1000 genomes]
rs4318808	0.97[ASN][1000 genomes]
rs4370300	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4370301	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371782	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4499855	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4565234	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4591774	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869169	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869170	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869171	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869172	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869173	0.97[ASN][1000 genomes]
rs4869175	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869176	0.88[ASN][1000 genomes]
rs4869177	0.82[ASN][1000 genomes]
rs4869178	0.88[ASN][1000 genomes]
rs4869362	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869363	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869364	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4869365	0.88[EUR][1000 genomes]
rs4869366	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869367	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869368	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869369	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869370	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869380	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4869381	0.96[ASN][1000 genomes]
rs4869383	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4869384	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4869385	0.88[ASN][1000 genomes]
rs4869386	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4869387	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5009275	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55869407	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55876261	0.97[ASN][1000 genomes]
rs55930551	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56159846	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56313483	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56691285	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57093667	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58434977	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs58789574	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58960401	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59482420	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59745660	0.87[ASN][1000 genomes]
rs60521916	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60859704	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61009572	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61120732	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61501692	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6556995	0.89[ASN][1000 genomes]
rs6866014	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6876977	0.96[ASN][1000 genomes]
rs6879692	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72766393	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72766401	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768204	0.88[EUR][1000 genomes]
rs72768207	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768209	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768210	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768213	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768215	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768216	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768217	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768218	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768220	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768222	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768223	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768233	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768239	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768240	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768242	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72768248	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768249	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72768250	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72774085	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72774086	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72774088	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72774094	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775904	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775906	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775909	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775911	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72775913	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775914	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775917	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72775919	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72775920	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775921	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775922	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775924	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775925	0.98[ASN][1000 genomes]
rs72775952	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775953	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775954	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775955	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72775958	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72775963	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775966	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72775977	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72775979	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72775982	0.88[ASN][1000 genomes]
rs72775984	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72775990	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72775991	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72775992	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72775998	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7709402	0.96[ASN][1000 genomes]
rs7722060	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9314213	0.96[ASN][1000 genomes]
rs9314214	0.96[ASN][1000 genomes]
rs9968766	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv830417	chr5:96915211-97129196	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv598965	chr5:96934739-97101816	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1020125	chr5:96937248-97350644	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv462256	chr5:96940843-97096042	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv598966	chr5:96940843-97096042	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv598967	chr5:96943871-97072819	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv2763470	chr5:96953830-96966349	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96963200-96965600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:96964000-96965600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:96964600-96966600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:96965000-96965800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:96965000-96966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:96965200-96965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:96965200-96966000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:96965400-96965800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:96965400-96966400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:96965400-96967800	Weak transcription	NHDF-Ad	bronchial
11	chr5:96965400-96967800	Weak transcription	NHLF	lung

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