Variant report

Variant	rs7350123
Chromosome Location	chr8:47531203-47531204
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	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:

Variant related genes	Relation type
ENSG00000248498	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10099579	1.00[EUR][1000 genomes]
rs10105334	1.00[EUR][1000 genomes]
rs10283180	1.00[EUR][1000 genomes]
rs10283395	1.00[EUR][1000 genomes]
rs10866899	1.00[EUR][1000 genomes]
rs11136207	1.00[EUR][1000 genomes]
rs11785224	1.00[EUR][1000 genomes]
rs12541702	1.00[EUR][1000 genomes]
rs12544059	1.00[EUR][1000 genomes]
rs12546145	1.00[EUR][1000 genomes]
rs12674805	1.00[EUR][1000 genomes]
rs13248525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1917553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1969449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2974371	1.00[EUR][1000 genomes]
rs2974372	1.00[EUR][1000 genomes]
rs4129530	1.00[EUR][1000 genomes]
rs4242443	1.00[EUR][1000 genomes]
rs4242444	1.00[EUR][1000 genomes]
rs4262336	1.00[EUR][1000 genomes]
rs4272390	1.00[EUR][1000 genomes]
rs4282587	1.00[EUR][1000 genomes]
rs4305914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4316165	1.00[EUR][1000 genomes]
rs4322016	1.00[EUR][1000 genomes]
rs4379457	1.00[EUR][1000 genomes]
rs4400397	1.00[EUR][1000 genomes]
rs4412382	1.00[AMR][1000 genomes]
rs4416831	1.00[EUR][1000 genomes]
rs4437663	1.00[EUR][1000 genomes]
rs4440648	1.00[EUR][1000 genomes]
rs4445234	1.00[EUR][1000 genomes]
rs4461911	1.00[EUR][1000 genomes]
rs4471053	1.00[EUR][1000 genomes]
rs4474040	1.00[EUR][1000 genomes]
rs4478584	1.00[EUR][1000 genomes]
rs4498572	1.00[EUR][1000 genomes]
rs4554479	1.00[EUR][1000 genomes]
rs4559246	1.00[EUR][1000 genomes]
rs4610759	1.00[EUR][1000 genomes]
rs4612358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4618706	1.00[EUR][1000 genomes]
rs4620295	1.00[EUR][1000 genomes]
rs4872663	1.00[EUR][1000 genomes]
rs4872665	1.00[EUR][1000 genomes]
rs4872666	1.00[EUR][1000 genomes]
rs4872675	1.00[EUR][1000 genomes]
rs4872998	1.00[EUR][1000 genomes]
rs4873000	1.00[EUR][1000 genomes]
rs4873025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57944169	1.00[EUR][1000 genomes]
rs61196968	1.00[EUR][1000 genomes]
rs6558274	0.85[AFR][1000 genomes]
rs7015416	1.00[EUR][1000 genomes]
rs7293721	1.00[EUR][1000 genomes]
rs73567202	1.00[EUR][1000 genomes]
rs73569068	1.00[EUR][1000 genomes]
rs73569072	1.00[EUR][1000 genomes]
rs73569092	1.00[EUR][1000 genomes]
rs73571015	1.00[EUR][1000 genomes]
rs73572803	1.00[EUR][1000 genomes]
rs73574911	1.00[EUR][1000 genomes]
rs73574936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574942	1.00[EUR][1000 genomes]
rs73574944	1.00[EUR][1000 genomes]
rs7816038	0.95[AFR][1000 genomes]
rs7816162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821188	1.00[EUR][1000 genomes]
rs7823791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7825098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829250	1.00[EUR][1000 genomes]
rs7833860	1.00[EUR][1000 genomes]
rs7845561	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031244	chr8:46847522-47735165	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1032451	chr8:46847522-47743250	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2761184	chr8:46847534-47743262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1031161	chr8:46919261-47743250	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1029976	chr8:46923272-47555196	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1021368	chr8:46923272-47599637	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539581	chr8:46923272-47599637	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1034114	chr8:46923272-47698142	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv539582	chr8:46923272-47698142	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1025020	chr8:46924110-47743250	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv516063	chr8:46942842-47739851	ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1067670	chr8:46942956-47574071	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv529313	chr8:46942956-47574071	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv533858	chr8:46942956-47620905	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1067672	chr8:46942956-47703687	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv532155	chr8:46942956-47703687	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv497819	chr8:46942962-47703693	Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv916550	chr8:46942962-47863337	Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv1017335	chr8:47036657-47555196	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv611234	chr8:47060977-47679981	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv465666	chr8:47060977-47739851	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv611235	chr8:47060977-47739851	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1016829	chr8:47083849-47982647	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	nsv465669	chr8:47105157-47947701	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv611241	chr8:47105157-47947701	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv948803	chr8:47190621-47939976	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv1034678	chr8:47199167-47533848	Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv1022097	chr8:47271657-47599637	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
31	nsv1031074	chr8:47399773-47539002	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv831307	chr8:47401773-47595682	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv2757270	chr8:47415180-47565280	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	esv2759609	chr8:47415180-47565280	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv1028494	chr8:47432612-47555196	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
37	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
38	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
39	nsv869142	chr8:47456485-47982673	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
40	nsv1016639	chr8:47459550-47698142	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
41	nsv539590	chr8:47459550-47698142	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
42	nsv831308	chr8:47490970-47684786	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
43	nsv818621	chr8:47516622-47535597	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	nsv8335	chr8:47518615-47568952	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	nsv611304	chr8:47519781-47543932	Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	esv2764081	chr8:47521117-47536546	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
47	esv11392	chr8:47523894-47545903	ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
48	esv3377201	chr8:47524587-47542685	Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
49	nsv1029054	chr8:47525564-47558092	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
50	esv2421990	chr8:47525576-47536546	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47529400-47531400	Weak transcription	Pancreas	Pancrea

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