Variant report

Variant	rs576725494
Chromosome Location	chr5:70526728-70526729
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	CEBPB	chr5:70526709-70527074	H1-hESC	embryonic stem cell:	n/a	n/a
2	UBTF	chr5:70526722-70526899	K562	blood:	n/a	n/a
3	SIX5	chr5:70526459-70526754	K562	blood:	n/a	n/a
4	ZMIZ1	chr5:70526708-70526908	K562	blood:	n/a	n/a
5	GATA2	chr5:70526457-70526856	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254276	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv881986	chr5:69830067-70649421	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv491966	chr5:69843629-70587018	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv497817	chr5:69843651-70587019	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv882000	chr5:69924203-70606506	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
11	nsv882004	chr5:69945222-70606506	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv882034	chr5:70096904-70606506	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv917254	chr5:70247769-70587019	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1033366	chr5:70254883-70710447	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv882135	chr5:70275720-70689452	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv433373	chr5:70291250-70649421	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv882149	chr5:70337808-70627412	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv533712	chr5:70369930-70657718	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv882156	chr5:70379466-70664663	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv533636	chr5:70386570-70663068	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
22	esv1813375	chr5:70391749-70663300	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv1846606	chr5:70391749-70663300	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv1812997	chr5:70391881-70657688	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	7 gene(s)	inside rSNPs	diseases
25	esv1802971	chr5:70443659-70660252	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
26	esv1792558	chr5:70461915-70659556	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
27	esv1804508	chr5:70488704-70660252	Enhancers Genic enhancers Strong transcription Weak transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
28	esv1805483	chr5:70489943-70660252	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv18751	chr5:70491570-70534329	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv3348902	chr5:70496996-70534894	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv882163	chr5:70516801-70599000	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv882164	chr5:70516801-70606506	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv882165	chr5:70516801-70620213	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv882166	chr5:70516801-70649421	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv882167	chr5:70516801-70664663	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
36	esv3444696	chr5:70521896-70535194	Enhancers Genic enhancers Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv968939	chr5:70523922-70529721	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv968940	chr5:70523922-70530575	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
39	esv3359091	chr5:70524496-70528994	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70525600-70528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:70525600-70528000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:70525800-70528000	Weak transcription	Ovary	ovary
4	chr5:70525800-70528200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:70525800-70528200	Weak transcription	Fetal Brain Female	brain
6	chr5:70526600-70527000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:70526600-70527000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:70526600-70527000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:70526600-70527000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:70526600-70527200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:70526600-70527200	Strong transcription	Fetal Intestine Large	intestine
12	chr5:70526600-70527400	Enhancers	H1 Cell Line	embryonic stem cell

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