Variant report

Variant	rs189992936
Chromosome Location	chr5:69799737-69799738
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	GATA2	chr5:69799442-69799779	K562	blood:	n/a	chr5:69799766-69799777

Variant related genes	Relation type
ENSG00000205565	TF binding region
ENSG00000253333	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508367	chr5:69203497-69974573	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1827812	chr5:69229009-70161548	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region CpG island lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv917350	chr5:69238689-69925315	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv598485	chr5:69254301-70251701	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv598496	chr5:69279340-70268280	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv598497	chr5:69279340-70271505	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv598500	chr5:69291141-70251701	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	esv3490712	chr5:69311497-70160360	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv3490713	chr5:69311497-70160360	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv497877	chr5:69372450-70328742	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv996313	chr5:69372472-70247802	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3378329	chr5:69397580-70162221	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv471489	chr5:69404245-70196075	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv881907	chr5:69424050-70019188	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv533532	chr5:69426278-70309826	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	esv1795633	chr5:69449847-70161548	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv881916	chr5:69537848-69830067	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
18	esv1813575	chr5:69551237-70051769	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1807513	chr5:69589662-70055434	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv598523	chr5:69593713-69806111	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv1809779	chr5:69593713-69966865	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
22	esv1813230	chr5:69593713-69966865	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv916099	chr5:69615305-69843716	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv1813251	chr5:69670666-69886621	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv598533	chr5:69688350-70379466	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
26	nsv598535	chr5:69698289-69984057	Weak transcription Enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
27	esv1805631	chr5:69705362-70657888	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
28	nsv533487	chr5:69705592-70386571	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
29	nsv598536	chr5:69705610-70379466	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
30	nsv916065	chr5:69732162-70386594	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
31	nsv533404	chr5:69732162-70587019	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
32	nsv918008	chr5:69732191-70587018	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
33	nsv529566	chr5:69732192-70309855	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
34	nsv529522	chr5:69732192-70386600	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
35	nsv1067570	chr5:69732192-70587018	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
36	nsv491621	chr5:69732192-70587018	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
37	nsv529287	chr5:69732192-70716662	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
38	esv1807176	chr5:69732869-69997567	Weak transcription Enhancers Strong transcription Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
39	esv1805620	chr5:69763352-69861226	Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
40	esv1806613	chr5:69769393-70058095	Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
41	esv1796301	chr5:69769937-70158279	Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
42	esv1802832	chr5:69774391-70272755	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
43	nsv881982	chr5:69777810-69840276	Weak transcription Enhancers Strong transcription	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
44	esv3361976	chr5:69779996-69820694	Weak transcription Enhancers Strong transcription	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
45	esv3364080	chr5:69779996-69830994	Weak transcription Enhancers Strong transcription	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
46	esv10572	chr5:69781318-69831930	Weak transcription Enhancers Strong transcription	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
47	esv19032	chr5:69781549-69807860	Enhancers Weak transcription Strong transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
48	nsv598541	chr5:69789719-69829864	Enhancers Weak transcription Strong transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
49	esv1806456	chr5:69790587-70212572	Enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
50	nsv598542	chr5:69790644-69824241	Weak transcription Enhancers Strong transcription	TF binding region CpG island	3 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	chr5:69798800-69808600	Weak transcription	Fetal Intestine Small	intestine

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