Variant report

Variant	rs533731714
Chromosome Location	chr16:30268839-30268840
allele	C/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	POLR2A	chr16:30266960-30269184	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB33	chr16:30267698-30269213	HepG2	liver:	n/a	n/a
3	BATF	chr16:30268701-30268945	GM12878	blood:	n/a	n/a
4	GATA2	chr16:30268408-30269031	K562	blood:	n/a	n/a
5	SIX5	chr16:30268083-30268908	K562	blood:	n/a	n/a
6	FOSL2	chr16:30267022-30269182	HepG2	liver:	n/a	chr16:30268965-30268977
7	POLR2A	chr16:30268121-30268893	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr16:30267072-30268861	HepG2	liver:	n/a	n/a
9	FOSL2	chr16:30267350-30269360	HepG2	liver:	n/a	chr16:30268965-30268977
10	POLR2A	chr16:30268067-30269032	GM12891	blood:	n/a	n/a
11	JUND	chr16:30267699-30268923	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:30267818-30268873	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOXA1	chr16:30267613-30269388	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:30268493-30268911	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:30268071-30268999	GM12891	blood:	n/a	n/a
16	SP1	chr16:30268659-30268923	GM12878	blood:	n/a	n/a
17	GABPA	chr16:30268688-30268984	Hela-S3	cervix:	n/a	n/a
18	SP1	chr16:30268799-30268884	HepG2	liver:	n/a	n/a
19	USF1	chr16:30268442-30268889	HepG2	liver:	n/a	n/a
20	IRF4	chr16:30268389-30269006	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr16:30268723-30268903	HepG2	liver:	n/a	n/a
22	EP300	chr16:30267803-30268884	GM12878	blood:	n/a	n/a
23	USF1	chr16:30268480-30268918	HepG2	liver:	n/a	n/a
24	SP1	chr16:30267062-30269440	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:30264608-30269073	GM12878	blood:	n/a	n/a
26	HEY1	chr16:30267992-30269270	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:30267087-30269010	GM12891	blood:	n/a	n/a
28	POLR2A	chr16:30267703-30268903	Hela-S3	cervix:	n/a	n/a
29	POU2F2	chr16:30268065-30269243	GM12878	blood:	n/a	chr16:30269087-30269102 chr16:30269084-30269106 chr16:30269088-30269100 chr16:30269088-30269101 chr16:30269090-30269101 chr16:30269090-30269101 chr16:30269090-30269100 chr16:30269086-30269104 chr16:30269091-30269099
30	EBF1	chr16:30268663-30268871	GM12878	blood:	n/a	n/a
31	RXRA	chr16:30267355-30268887	HepG2	liver:	n/a	n/a
32	SP1	chr16:30268486-30269015	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr16:30268448-30269269	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:30267644-30269188	GM12878	blood:	n/a	n/a
35	ZBTB33	chr16:30268732-30268892	HepG2	liver:	n/a	n/a
36	RXRA	chr16:30267732-30269295	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000198064	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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	nsv817565	chr16:29439269-30332014	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
2	nsv533011	chr16:29452333-30334631	Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
3	nsv817450	chr16:29478059-30332014	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
4	nsv916456	chr16:29478060-30332569	Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
5	nsv1057705	chr16:29517699-30306956	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
6	nsv1064865	chr16:29517699-30320308	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
7	nsv916657	chr16:29590554-30332014	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
8	nsv1067735	chr16:29592783-30332581	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
9	nsv529109	chr16:29592783-30332581	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
10	nsv916238	chr16:29592791-30332569	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription 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 miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
11	nsv916382	chr16:29620689-30332014	Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
12	nsv431445	chr16:29652488-30328317	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
13	nsv817378	chr16:29656684-30332591	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
14	nsv533014	chr16:29656684-30334631	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
15	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
16	nsv948506	chr16:29673203-30320307	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
17	nsv1067742	chr16:29673954-30332581	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
18	nsv533015	chr16:29673954-30332581	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
19	nsv533272	chr16:29673967-30332569	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
20	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
21	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
22	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
23	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
24	esv1833288	chr16:30192562-30317178	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
25	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
26	esv21428	chr16:30197831-30305244	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
27	esv1810780	chr16:30198079-30320296	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
28	esv1830409	chr16:30198079-30345291	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
29	esv12853	chr16:30199661-30346806	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
30	esv1812498	chr16:30200317-30321503	Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
31	esv1825106	chr16:30200317-30321503	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
32	esv1804277	chr16:30200317-30323725	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	esv1811407	chr16:30206038-30346558	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
34	nsv977956	chr16:30229515-30269117	Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
35	esv1829695	chr16:30254410-30335960	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
36	esv1805420	chr16:30254410-30345836	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
37	esv1844310	chr16:30257763-30310151	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
38	esv1825225	chr16:30258820-30303402	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
39	nsv984413	chr16:30262320-30284016	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
40	esv3427338	chr16:30264251-30293149	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases

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

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