Variant report

Variant	rs539794012
Chromosome Location	chr14:19607594-19607595
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	RFX5	chr14:19607403-19607595	K562	blood:	n/a	n/a
2	IRF1	chr14:19607416-19607600	K562	blood:	n/a	n/a
3	TBL1XR1	chr14:19607405-19607594	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000258314	TF binding region

Extended variants
information (count: 248 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054177	chr14:19002112-19620039	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1040404	chr14:19002112-19689305	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1049474	chr14:19002112-19697873	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1036376	chr14:19002112-19706746	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1050303	chr14:19002112-19790343	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1047368	chr14:19002112-19796172	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1035372	chr14:19002112-19801743	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1052480	chr14:19002112-19877060	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1039262	chr14:19002112-19938429	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv1042816	chr14:19015748-19689305	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1045932	chr14:19117985-19877060	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1036252	chr14:19273613-19801743	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv1051852	chr14:19273613-19802529	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv1037633	chr14:19273613-19852821	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv1048600	chr14:19273613-19877060	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv1053054	chr14:19273613-19938429	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv1050069	chr14:19273613-20010901	Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
18	nsv1036591	chr14:19273613-20105479	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
19	nsv1045892	chr14:19273613-20221839	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
20	nsv1041547	chr14:19273613-20241852	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
21	nsv563597	chr14:19280733-20075427	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
22	nsv530768	chr14:19323022-20180453	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
23	nsv1038926	chr14:19335739-19801743	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv1043334	chr14:19335739-19844095	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
25	nsv1053750	chr14:19335739-19852821	Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
26	nsv1036949	chr14:19335739-19877060	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
27	nsv1044317	chr14:19335739-19938429	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
28	nsv1050849	chr14:19335739-20010901	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
29	nsv1050003	chr14:19335739-20217561	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
30	nsv1054019	chr14:19335739-20232626	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
31	nsv1053511	chr14:19335739-20259951	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
32	nsv563609	chr14:19344858-19612853	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
33	nsv563610	chr14:19344858-19649523	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
34	nsv563612	chr14:19351475-19649523	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
35	esv14995	chr14:19361827-19757851	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
36	esv3497943	chr14:19364617-19755312	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
37	esv3497944	chr14:19364617-19755312	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
38	nsv563613	chr14:19376736-20317747	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
39	nsv1049354	chr14:19382197-19844095	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
40	nsv1047182	chr14:19382197-19852821	Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
41	nsv1040845	chr14:19382197-19877060	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
42	nsv1038353	chr14:19382197-19938429	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
43	nsv1052207	chr14:19382197-20010901	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
44	nsv1040110	chr14:19382197-20105479	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
45	nsv1043078	chr14:19382197-20203886	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
46	nsv1045112	chr14:19382197-20211644	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
47	nsv1041816	chr14:19382197-20253780	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
48	nsv1047744	chr14:19382197-20259951	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
49	nsv1040783	chr14:19382197-20267876	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
50	nsv1039008	chr14:19382197-20321078	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	63 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	chr14:19607400-19609600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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