Variant report

Variant	rs576253945
Chromosome Location	chr5:69697583-69697584
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32846	chr5:68829015-69705591	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1802173	chr5:68958423-69705657	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv881779	chr5:68991341-69753111	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	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
5	nsv881820	chr5:69227312-69697815	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv598483	chr5:69254301-69705610	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv881867	chr5:69280077-69697815	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv881873	chr5:69283377-69707143	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	esv18523	chr5:69423253-69705884	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv881905	chr5:69424050-69697815	Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv881906	chr5:69424050-69706727	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	nsv881909	chr5:69470589-69706727	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
29	esv1799772	chr5:69486999-69705657	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv881912	chr5:69515526-69707814	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
31	nsv881913	chr5:69530937-69706727	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
32	esv1805803	chr5:69530937-69715648	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
33	esv3434112	chr5:69532346-69725244	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
34	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
35	esv3358868	chr5:69532896-69706494	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
36	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
37	nsv881915	chr5:69537848-69697815	Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
38	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
39	nsv511294	chr5:69545253-69704160	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
40	esv1799673	chr5:69545716-69705018	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
41	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
42	nsv968198	chr5:69552806-69705723	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
43	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
44	nsv881917	chr5:69555190-69753111	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
45	nsv881920	chr5:69571520-69697815	Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
46	nsv881921	chr5:69571520-69706727	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
47	nsv881922	chr5:69571520-69707143	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
48	nsv881923	chr5:69571520-69708195	Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
49	nsv881924	chr5:69571520-69737299	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
50	nsv881925	chr5:69571520-69753111	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69696800-69697600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:69696800-69697600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr5:69696800-69697600	Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr5:69696800-69697600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:69696800-69697600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:69696800-69697600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:69696800-69697600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:69696800-69697600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:69696800-69697600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:69696800-69697600	Active TSS	Colonic Mucosa	Colon
11	chr5:69696800-69697600	Active TSS	Pancreas	Pancrea
12	chr5:69696800-69697600	Active TSS	Thymus	Thymus
13	chr5:69697000-69697600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:69697000-69697600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:69697000-69697600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:69697000-69697600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:69697000-69697600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:69697000-69697600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:69697000-69697600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:69697000-69697600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:69697000-69697600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:69697000-69697600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:69697000-69697600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:69697000-69697600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:69697000-69697600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:69697000-69697600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:69697000-69697600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:69697000-69697600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:69697000-69697600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:69697000-69697600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:69697000-69697600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:69697000-69697600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr5:69697000-69697600	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr5:69697000-69697600	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr5:69697000-69697600	Active TSS	Primary B cells from peripheral blood	blood
36	chr5:69697000-69697600	Active TSS	Primary T cells fromperipheralblood	blood
37	chr5:69697000-69697600	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr5:69697000-69697600	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:69697000-69697600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:69697000-69697600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr5:69697000-69697600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:69697000-69697600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:69697000-69697600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:69697000-69697600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:69697000-69697600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:69697000-69697600	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:69697000-69697600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:69697000-69697600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:69697000-69697600	Active TSS	Adipose Nuclei	Adipose
50	chr5:69697000-69697600	Active TSS	Liver	Liver

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