Variant report

Variant	rs28549265
Chromosome Location	chr16:34443162-34443163
allele	A/G
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	REST	chr16:34442890-34443260	ECC-1	luminal epithelium:	n/a	chr16:34443099-34443113 chr16:34443093-34443113 chr16:34443093-34443100 chr16:34443093-34443113 chr16:34443093-34443113 chr16:34443094-34443112
2	REST	chr16:34442917-34443346	SK-N-SH	brain:	n/a	chr16:34443099-34443113 chr16:34443093-34443113 chr16:34443311-34443319 chr16:34443093-34443100 chr16:34443093-34443113 chr16:34443093-34443113 chr16:34443094-34443112
3	MXI1	chr16:34441496-34443498	SK-N-SH	brain:	n/a	chr16:34442835-34442850 chr16:34442260-34442275 chr16:34442262-34442277
4	REST	chr16:34442956-34443201	SK-N-SH	brain:	n/a	chr16:34443099-34443113 chr16:34443093-34443113 chr16:34443093-34443100 chr16:34443093-34443113 chr16:34443093-34443113 chr16:34443094-34443112
5	REST	chr16:34442892-34443275	SK-N-SH	brain:	n/a	chr16:34443099-34443113 chr16:34443093-34443113 chr16:34443093-34443100 chr16:34443093-34443113 chr16:34443093-34443113 chr16:34443094-34443112
6	RAD21	chr16:34442977-34443296	SK-N-SH_RA	brain:	n/a	chr16:34443110-34443122

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34443120-34443170	Hepatocyte	liver:	n/a
2	chr16:34443120-34443170	HL-60	blood:	n/a
3	chr16:34443120-34443170	GM12878	blood:	n/a
4	chr16:34443120-34443170	HCF	heart:	n/a
5	chr16:34443120-34443170	HCT-116	colon:	n/a
6	chr16:34443120-34443170	NB4	blood:	n/a
7	chr16:34443120-34443170	AG04450	lung:	fetal
8	chr16:34443120-34443170	NH-A	brain:	n/a
9	chr16:34443120-34443170	Hela-S3	cervix:	n/a
10	chr16:34443120-34443170	HEEpiC	esophagus:	n/a
11	chr16:34443120-34443170	HRCEpiC	kidney:	n/a
12	chr16:34443120-34443170	PANC-1	pancreas:	n/a
13	chr16:34443120-34443170	A549	lung:	n/a
14	chr16:34443120-34443170	HEK293	kidney:	embryo
15	chr16:34443120-34443170	NHDF-neo	bronchial:	n/a
16	chr16:34443120-34443170	SK-N-SH_RA	brain:	n/a
17	chr16:34443120-34443170	MCF10A-Er-Src	breast:	n/a
18	chr16:34443120-34443170	GM19239	blood:	n/a
19	chr16:34443120-34443170	AG04449	skin:	fetal
20	chr16:34443120-34443170	Jurkat	blood:	n/a
21	chr16:34443120-34443170	GM12892	blood:	n/a
22	chr16:34443120-34443170	HepG2	liver:	n/a
23	chr16:34443120-34443170	H1-hESC	embryonic stem cell:	embryo
24	chr16:34443120-34443170	HAEpiC	amniotic membrane:	n/a
25	chr16:34443120-34443170	LNCaP	prostate:	n/a
26	chr16:34443120-34443170	ECC-1	luminal epithelium:	n/a
27	chr16:34443120-34443170	SAEC	small airway:	n/a
28	chr16:34443120-34443170	BE2_C	brain:	n/a
29	chr16:34443120-34443170	HIPEpiC	eye:	n/a
30	chr16:34443120-34443170	U87	brain:	n/a
31	chr16:34443120-34443170	AG10803	skin:	n/a
32	chr16:34443120-34443170	HUVEC	blood vessel:	n/a
33	chr16:34443120-34443170	HMEC	breast:	n/a
34	chr16:34443120-34443170	MCF-7	breast:	n/a
35	chr16:34443120-34443170	HPAEpiC	pulmonary alveolar:	n/a
36	chr16:34443120-34443170	NHBE	bronchial:	n/a
37	chr16:34443120-34443170	SK-N-MC	brain:	n/a
38	chr16:34443120-34443170	RPTEC	kidney:	n/a
39	chr16:34443120-34443170	K562	blood:	n/a
40	chr16:34443120-34443170	HRE	kidney:	n/a
41	chr16:34443120-34443170	CMK	blood:	n/a
42	chr16:34443120-34443170	NT2-D1	testis:	n/a
43	chr16:34443120-34443170	HCPEpiC	choroid plexus:	n/a
44	chr16:34443120-34443170	GM06990	blood:	n/a
45	chr16:34443120-34443170	AoSMC	blood vessel:	n/a
46	chr16:34443120-34443170	T-47D	breast:	n/a
47	chr16:34443120-34443170	HCM	heart:	n/a
48	chr16:34443120-34443170	BJ	skin:	n/a
49	chr16:34443120-34443170	SK-N-SH	brain:	n/a
50	chr16:34443120-34443170	IMR90	lung:	fetal

Variant related genes	Relation type
ENSG00000261274	TF binding region
ENSG00000261274	CpG island

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13335703	1.00[AFR][1000 genomes]
rs13335742	0.90[AFR][1000 genomes]
rs28655731	1.00[AFR][1000 genomes]
rs9889059	1.00[AFR][1000 genomes]
rs9931278	1.00[AFR][1000 genomes]
rs9932475	1.00[AFR][1000 genomes]
rs9932813	1.00[AFR][1000 genomes]
rs9937949	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32538	chr16:33935506-34459464	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv431453	chr16:33940200-34760967	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	nsv906655	chr16:34176875-34597156	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1064842	chr16:34197339-34472275	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1063819	chr16:34197339-34492332	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056658	chr16:34197339-34682514	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv917674	chr16:34201887-34682588	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1067686	chr16:34202088-35147508	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	nsv532260	chr16:34202088-35147508	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
10	nsv457484	chr16:34221454-34535583	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv572376	chr16:34221454-34535583	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv521817	chr16:34221454-35168832	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
13	nsv521994	chr16:34221454-35168832	Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
14	nsv906656	chr16:34243979-34535583	ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv516385	chr16:34259805-34805859	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
16	esv2751557	chr16:34263599-34757071	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
17	nsv906657	chr16:34284743-34517789	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv431454	chr16:34321463-34790434	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
19	nsv428326	chr16:34357763-34769642	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
20	nsv431455	chr16:34359599-34796499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
21	esv2758422	chr16:34362213-34769642	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
22	nsv143	chr16:34378952-34732704	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
23	nsv144	chr16:34390796-34715796	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
24	esv2751558	chr16:34410569-34757071	Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
25	esv2756010	chr16:34421701-34733876	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
26	nsv431456	chr16:34421701-34733876	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
27	nsv431458	chr16:34421701-34760999	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
28	nsv145	chr16:34423094-34475651	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
29	esv2752478	chr16:34424309-34733876	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
30	nsv917579	chr16:34427599-34727491	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
31	nsv534678	chr16:34427859-34682448	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
32	nsv497944	chr16:34427916-34727365	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
33	nsv428652	chr16:34431651-34632711	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
34	nsv833212	chr16:34433963-34634327	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
35	esv2757636	chr16:34436185-35042935	ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
36	esv2754304	chr16:34437589-34617523	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
37	nsv431459	chr16:34437589-34702500	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
38	esv2751559	chr16:34437589-34733876	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
39	esv2751560	chr16:34437589-34733876	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
40	esv2751561	chr16:34437589-34733876	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
41	esv2751562	chr16:34437589-34733876	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
42	esv2752459	chr16:34437589-34733876	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
43	esv2752461	chr16:34437589-34733876	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
44	esv2753294	chr16:34437589-34733876	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
45	esv2753385	chr16:34437589-34733876	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
46	esv2753586	chr16:34437589-34733876	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
47	esv2753677	chr16:34437589-34733876	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
48	esv2754381	chr16:34437589-34733876	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
49	esv2755295	chr16:34437589-34733876	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
50	esv2755592	chr16:34437589-34733876	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr16:34442000-34443200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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