Variant report

Variant	rs12548128
Chromosome Location	chr8:6116300-6116301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:6115986-6116342	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr8:6115951-6116410	ECC-1	luminal epithelium:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
3	CTCF	chr8:6116050-6116354	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:6115964-6116428	K562	blood:	n/a	n/a
5	CTCF	chr8:6116160-6116310	SAEC	small airway:	n/a	n/a
6	CTCF	chr8:6116160-6116310	A549	lung:	n/a	n/a
7	POLR2A	chr8:6116007-6118194	SK-N-MC	brain:	n/a	n/a
8	RAD21	chr8:6115930-6116336	A549	lung:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
9	SMC3	chr8:6116001-6116464	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr8:6115861-6116410	SK-N-SH	brain:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
11	RAD21	chr8:6115992-6116339	GM12878	blood:	n/a	chr8:6116170-6116189
12	RAD21	chr8:6115874-6116403	A549	lung:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
13	RAD21	chr8:6116086-6116385	MCF-7	breast:	n/a	chr8:6116170-6116189
14	RAD21	chr8:6115971-6116306	HepG2	liver:	n/a	chr8:6116170-6116189
15	CTCF	chr8:6116009-6116369	GM12878	blood:	n/a	n/a
16	SMC3	chr8:6116066-6116321	K562	blood:	n/a	n/a
17	CTCF	chr8:6116051-6116307	Gliobla	brain:	n/a	n/a
18	CTCF	chr8:6116046-6116323	T-47D	breast:	n/a	n/a
19	CTCF	chr8:6115710-6116473	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr8:6115930-6116399	A549	lung:	n/a	n/a
21	RAD21	chr8:6116028-6116314	ECC-1	luminal epithelium:	n/a	chr8:6116170-6116189
22	SMC3	chr8:6116022-6116321	HepG2	liver:	n/a	n/a
23	RAD21	chr8:6115954-6116341	H1-hESC	embryonic stem cell:	n/a	chr8:6116170-6116189
24	RAD21	chr8:6116005-6116374	HepG2	liver:	n/a	chr8:6116170-6116189
25	CTCF	chr8:6116100-6116317	A549	lung:	n/a	n/a
26	RAD21	chr8:6115877-6116416	HCT-116	colon:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
27	RAD21	chr8:6115830-6116488	HCT-116	colon:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
28	RAD21	chr8:6116024-6116303	MCF-7	breast:	n/a	chr8:6116170-6116189
29	SMC3	chr8:6116026-6116342	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr8:6115987-6116327	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:6113437-6121012	SK-N-MC	brain:	n/a	n/a
32	CTCF	chr8:6116180-6116330	RPTEC	kidney:	n/a	n/a
33	CTCF	chr8:6116055-6116301	Medullo	brain:	n/a	n/a
34	CTCF	chr8:6115928-6116347	MCF-7	breast:	n/a	n/a
35	RAD21	chr8:6115951-6116361	SK-N-SH_RA	brain:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
36	RAD21	chr8:6115997-6116393	H1-hESC	embryonic stem cell:	n/a	chr8:6116170-6116189
37	SMC3	chr8:6116031-6116324	GM12878	blood:	n/a	n/a
38	CTCF	chr8:6115998-6116332	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:6116001-6116339	K562	blood:	n/a	n/a
40	CTCF	chr8:6116160-6116310	GM12872	blood:	n/a	n/a
41	RAD21	chr8:6116018-6116306	SK-N-SH_RA	brain:	n/a	chr8:6116170-6116189
42	RAD21	chr8:6115912-6116465	H1-hESC	embryonic stem cell:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965
43	CTCF	chr8:6115834-6116391	HCT-116	colon:	n/a	n/a
44	RAD21	chr8:6116014-6116361	Hela-S3	cervix:	n/a	chr8:6116170-6116189
45	CTCF	chr8:6115894-6116460	HCT-116	colon:	n/a	n/a
46	RAD21	chr8:6115932-6116368	HepG2	liver:	n/a	chr8:6115953-6115963 chr8:6116170-6116189 chr8:6115952-6115965

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6116111..6116635-chr8:6188825..6189362,2	MCF-7	breast:
2	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253880	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10087293	0.89[EUR][1000 genomes]
rs10105704	0.89[EUR][1000 genomes]
rs12543433	0.93[EUR][1000 genomes]
rs12548134	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17465994	0.89[EUR][1000 genomes]
rs56247561	0.93[EUR][1000 genomes]
rs56273625	0.89[EUR][1000 genomes]
rs56339873	0.93[EUR][1000 genomes]
rs56389624	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58882286	0.89[EUR][1000 genomes]
rs59534373	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59542310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59582814	1.00[AFR][1000 genomes]
rs61252150	0.96[EUR][1000 genomes]
rs61418068	0.96[EUR][1000 genomes]
rs66944953	0.89[EUR][1000 genomes]
rs67438531	0.89[EUR][1000 genomes]
rs67992071	0.89[EUR][1000 genomes]
rs6986242	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6990224	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7000892	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73190731	0.86[EUR][1000 genomes]
rs73190747	0.86[EUR][1000 genomes]
rs73190780	0.89[EUR][1000 genomes]
rs73190782	0.89[EUR][1000 genomes]
rs73190783	0.89[EUR][1000 genomes]
rs73190788	0.89[EUR][1000 genomes]
rs73190789	0.89[EUR][1000 genomes]
rs73190791	0.89[EUR][1000 genomes]
rs73190796	0.93[EUR][1000 genomes]
rs73190797	0.93[EUR][1000 genomes]
rs73192604	0.82[EUR][1000 genomes]
rs73504009	0.92[AFR][1000 genomes]
rs73504034	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422369	chr8:5485603-6124928	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028876	chr8:5607076-6210460	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv498091	chr8:5670252-6224305	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023355	chr8:5697207-6210541	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv539420	chr8:5697207-6210541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465431	chr8:5745852-6248244	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv609974	chr8:5745852-6248244	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv34065	chr8:5824905-6143052	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv890032	chr8:5888705-6149130	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv1018782	chr8:5984032-6284373	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1028149	chr8:6059473-6124125	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1022053	chr8:6072954-6194423	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2752259	chr8:6073242-6188337	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1028758	chr8:6076695-6188150	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv518189	chr8:6078909-6131269	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv2752260	chr8:6079132-6143052	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv890041	chr8:6084048-6274963	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1018058	chr8:6089306-6253121	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv465434	chr8:6091254-6171324	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv609987	chr8:6091254-6171324	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv890042	chr8:6098244-6128828	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv890043	chr8:6098244-6176935	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv2757253	chr8:6104977-6159854	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv2759587	chr8:6104977-6159854	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv890044	chr8:6106751-6167610	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv8274	chr8:6107278-6165692	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv824517	chr8:6107802-6165632	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv890045	chr8:6108034-6167610	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	nsv890046	chr8:6108423-6164560	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
34	nsv1033132	chr8:6109055-6253121	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
35	nsv539430	chr8:6109055-6253121	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	nsv1031637	chr8:6112269-6137008	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv522986	chr8:6114273-6119926	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv524587	chr8:6114273-6131269	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv818590	chr8:6114273-6159718	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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