Variant report

Variant	rs58262427
Chromosome Location	chr7:3387402-3387403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs12113645	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12114017	1.00[AMR][1000 genomes]
rs28396741	1.00[AMR][1000 genomes]
rs56945505	1.00[AMR][1000 genomes]
rs57348351	1.00[EUR][1000 genomes]
rs57447860	1.00[EUR][1000 genomes]
rs57456054	1.00[EUR][1000 genomes]
rs57938715	1.00[AMR][1000 genomes]
rs57941647	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58317645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58502351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58843670	1.00[EUR][1000 genomes]
rs58949619	1.00[EUR][1000 genomes]
rs58993463	1.00[EUR][1000 genomes]
rs59064718	1.00[EUR][1000 genomes]
rs59223438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59679657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60666675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61007926	1.00[EUR][1000 genomes]
rs61445469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284328	1.00[EUR][1000 genomes]
rs73286317	1.00[EUR][1000 genomes]
rs73286326	0.81[AFR][1000 genomes]
rs73286330	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73286334	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73286340	1.00[EUR][1000 genomes]
rs73286341	1.00[EUR][1000 genomes]
rs73286352	1.00[EUR][1000 genomes]
rs73286356	1.00[EUR][1000 genomes]
rs73286357	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73286358	1.00[EUR][1000 genomes]
rs73286361	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73286362	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73286364	1.00[EUR][1000 genomes]
rs73288335	1.00[EUR][1000 genomes]
rs73288341	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73288342	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73288349	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73288369	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73290049	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73290052	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73290058	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73290066	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73292162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292183	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292198	0.91[AFR][1000 genomes]
rs73293132	1.00[AMR][1000 genomes]
rs73293152	1.00[AMR][1000 genomes]
rs73293175	1.00[AMR][1000 genomes]
rs73293185	1.00[AMR][1000 genomes]
rs73294209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294216	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294223	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294229	0.83[AFR][1000 genomes]
rs73294245	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294247	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294254	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294258	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294266	0.91[AFR][1000 genomes]
rs73294267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296330	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296344	1.00[AMR][1000 genomes]
rs73296357	1.00[AMR][1000 genomes]
rs73296358	1.00[AMR][1000 genomes]
rs73296760	1.00[AMR][1000 genomes]
rs73296766	1.00[AMR][1000 genomes]
rs73297033	1.00[EUR][1000 genomes]
rs73298370	1.00[AMR][1000 genomes]
rs73298373	1.00[AMR][1000 genomes]
rs73298374	1.00[AMR][1000 genomes]
rs73298379	1.00[AMR][1000 genomes]
rs73298387	1.00[AMR][1000 genomes]
rs73298397	1.00[AMR][1000 genomes]
rs73300393	1.00[AMR][1000 genomes]
rs73300394	1.00[AMR][1000 genomes]
rs73302308	1.00[AMR][1000 genomes]
rs73302316	1.00[AMR][1000 genomes]
rs73302318	1.00[AMR][1000 genomes]
rs7789842	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv605892	chr7:3341589-3424878	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1019492	chr7:3359294-3479972	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv538663	chr7:3359294-3479972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2757204	chr7:3359491-3460355	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1028585	chr7:3364990-3400105	Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1030484	chr7:3364990-3506102	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1018105	chr7:3365441-3506102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1026361	chr7:3366960-3502600	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv538664	chr7:3366960-3502600	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv605893	chr7:3368197-3505231	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv887325	chr7:3373820-3418411	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv887326	chr7:3374848-3418411	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1034410	chr7:3377927-3434703	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv1020442	chr7:3378394-3408268	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1033448	chr7:3378394-3433229	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv538665	chr7:3378394-3433229	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv464268	chr7:3381789-3413867	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv605894	chr7:3381789-3413867	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv605895	chr7:3381789-3431050	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv519027	chr7:3381789-3434275	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv605896	chr7:3381789-3434275	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1020542	chr7:3381813-3434703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv437530	chr7:3383603-3445311	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	esv2753963	chr7:3383603-3455249	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv605897	chr7:3384144-3415946	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv605898	chr7:3384144-3434275	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv981826	chr7:3384313-3413979	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3384200-3389800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:3386000-3388800	Weak transcription	Aorta	Aorta
3	chr7:3386000-3410400	Weak transcription	Pancreas	Pancrea
4	chr7:3386200-3408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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