Variant report

Variant	rs530911542
Chromosome Location	chr5:70250857-70250858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv881985	chr5:69830067-70265120	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
21	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
22	esv21405	chr5:69830214-70497993	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
23	esv1844201	chr5:69841974-70301684	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
24	nsv492019	chr5:69843629-70386600	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
25	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
26	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
27	esv1847893	chr5:69849569-70301684	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
28	nsv881990	chr5:69866412-70305553	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
29	nsv881992	chr5:69880767-70305553	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
30	nsv881996	chr5:69886621-70305553	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
31	nsv881997	chr5:69886621-70498086	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
32	esv1825470	chr5:69894658-70281479	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
33	nsv881999	chr5:69924203-70265120	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
34	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
35	nsv882001	chr5:69927501-70299768	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
36	nsv882002	chr5:69927501-70305553	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
37	nsv882003	chr5:69945222-70353003	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
38	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
39	esv1843870	chr5:69962401-70281479	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
40	nsv882005	chr5:69986376-70471631	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
41	nsv882006	chr5:70029358-70265120	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
42	nsv882007	chr5:70029358-70291250	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
43	nsv882008	chr5:70029358-70498086	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
44	nsv882009	chr5:70042829-70275720	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
45	nsv882010	chr5:70042829-70305553	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
46	nsv882012	chr5:70062545-70291250	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
47	nsv882013	chr5:70062545-70337808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
48	nsv882014	chr5:70072721-70265120	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
49	nsv882015	chr5:70072721-70268280	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
50	nsv882016	chr5:70072721-70275720	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70238000-70257800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:70239000-70252400	Weak transcription	Liver	Liver
3	chr5:70239400-70252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:70244400-70253000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:70244800-70256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:70245000-70253000	Weak transcription	Fetal Intestine Small	intestine
7	chr5:70245000-70257600	Weak transcription	Fetal Stomach	stomach
8	chr5:70245200-70258200	Weak transcription	Fetal Thymus	thymus
9	chr5:70245400-70252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:70246400-70252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:70246400-70252800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:70246400-70256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:70246400-70258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:70246600-70252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:70247000-70259600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:70247600-70253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:70248200-70251600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:70248200-70256800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:70248600-70251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:70248600-70251400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:70248600-70251400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:70248600-70251400	Weak transcription	Thymus	Thymus
23	chr5:70249200-70258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:70249200-70266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:70249400-70257600	Weak transcription	Dnd41	blood
26	chr5:70249600-70257800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:70249800-70252200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:70249800-70252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:70249800-70252200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:70249800-70252200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:70250600-70251600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:70250800-70251000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:70250800-70251000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:70250800-70251200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:70250800-70251200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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