Variant report

Variant	rs138403865
Chromosome Location	chr5:69755157-69755158
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	chr5:69755065-69755400	GM12878	blood:	n/a	n/a
2	ESR1	chr5:69754995-69755378	T-47D	breast:	n/a	n/a
3	ESR1	chr5:69754993-69755406	T-47D	breast:	n/a	n/a
4	FOXA1	chr5:69755066-69755396	HepG2	liver:	n/a	n/a
5	RXRA	chr5:69754979-69755380	HepG2	liver:	n/a	n/a
6	RXRA	chr5:69755070-69755330	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000250687	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:66 , 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	nsv598484	chr5:69254301-69780256	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	esv3406940	chr5:69532346-69782244	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv14795	chr5:69533462-69782191	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
20	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
21	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
22	esv1808118	chr5:69553429-69774391	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv881926	chr5:69571520-69773358	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
24	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
25	esv1806902	chr5:69593713-69756225	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
26	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
27	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
28	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
29	esv1806579	chr5:69605119-69756782	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
30	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
31	esv1813995	chr5:69656454-69756225	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv881954	chr5:69656454-69773358	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv598531	chr5:69663626-69777810	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv881962	chr5:69670666-69756225	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv881963	chr5:69670666-69773358	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
36	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
37	nsv881971	chr5:69677532-69756225	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
38	nsv881972	chr5:69677532-69773358	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
39	nsv881974	chr5:69688350-69773358	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
40	nsv881975	chr5:69688350-69780256	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
41	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
42	esv1807388	chr5:69697441-69768913	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
43	nsv881980	chr5:69697815-69773358	Weak transcription Strong transcription Enhancers Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
44	nsv598534	chr5:69697815-69780256	Strong transcription Enhancers Weak transcription Active TSS	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
45	nsv598535	chr5:69698289-69984057	Weak transcription Enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
46	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
47	esv999813	chr5:69705586-69767603	Weak transcription Strong transcription Enhancers Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
48	esv16697	chr5:69705586-69780653	Weak transcription Active TSS Enhancers Strong transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
49	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
50	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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69754800-69755400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:69755000-69755400	Enhancers	Monocytes-CD14+_RO01746	blood

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