Variant report

Variant	nsv822961
Chromosome Location	chr5:1877184-1877830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1706531..1709352-chr5:1876772..1878582,2	K562	blood:
2	chr5:1800060..1803631-chr5:1877148..1879062,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263746	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000171421	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538812449	chr5:1877209-1877210	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs11322851	chr5:1877210-1877211	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs561707917	chr5:1877211-1877212	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs111755413	chr5:1877214-1877215	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1684971	chr5:1877218-1877219	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553656906	chr5:1877219-1877220	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs572117481	chr5:1877221-1877222	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs182369083	chr5:1877254-1877255	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144968382	chr5:1877257-1877258	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs4975709	chr5:1877280-1877281	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
11	rs543743242	chr5:1877294-1877295	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs186635617	chr5:1877328-1877329	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs147559023	chr5:1877345-1877346	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs191390292	chr5:1877349-1877350	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs142520796	chr5:1877363-1877364	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559647617	chr5:1877372-1877373	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183566279	chr5:1877374-1877375	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557740122	chr5:1877381-1877382	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs111867457	chr5:1877495-1877496	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs57791028	chr5:1877509-1877510	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533919711	chr5:1877512-1877513	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs116785127	chr5:1877526-1877527	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs527965863	chr5:1877530-1877531	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530911056	chr5:1877574-1877575	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs552254782	chr5:1877586-1877587	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs571539649	chr5:1877602-1877603	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538516019	chr5:1877621-1877622	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs199904678	chr5:1877639-1877640	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567966563	chr5:1877650-1877651	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs553973761	chr5:1877670-1877671	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377187612	chr5:1877712-1877713	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140328180	chr5:1877733-1877734	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs144226957	chr5:1877739-1877740	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs537074327	chr5:1877742-1877743	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs114755584	chr5:1877748-1877749	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs577472404	chr5:1877752-1877753	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs541348994	chr5:1877803-1877804	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559941079	chr5:1877814-1877815	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1874400-1877400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr5:1874600-1877200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr5:1874600-1877200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr5:1874800-1877400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:1875000-1877200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:1875200-1877400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:1875400-1877200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr5:1875400-1877200	Enhancers	Fetal Heart	heart
9	chr5:1875600-1877200	Weak transcription	HMEC	breast
10	chr5:1875800-1877400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:1876000-1877200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:1876200-1877200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:1876200-1877200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:1876400-1877200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:1876400-1877200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr5:1876400-1877200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:1876400-1877200	Bivalent Enhancer	Lung	lung
18	chr5:1876400-1877200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr5:1876400-1877400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr5:1876600-1877200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:1876600-1877800	Weak transcription	Right Ventricle	heart
22	chr5:1876600-1878400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:1876600-1882400	Weak transcription	Right Atrium	heart
24	chr5:1876800-1877200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:1876800-1877200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr5:1876800-1877200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr5:1876800-1878800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:1877000-1877200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:1877000-1877200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:1877000-1877200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr5:1877000-1877200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:1877000-1877200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:1877000-1878000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr5:1877000-1880800	Strong transcription	NHEK	skin
35	chr5:1877200-1877400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr5:1877200-1877400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr5:1877200-1877400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:1877200-1877600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
39	chr5:1877200-1877600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr5:1877200-1877800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr5:1877200-1877800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr5:1877200-1877800	Bivalent Enhancer	Fetal Heart	heart
43	chr5:1877200-1878400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:1877200-1880600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:1877200-1881200	Strong transcription	HMEC	breast
46	chr5:1877200-1881600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:1877200-1881600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:1877200-1881600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:1877400-1877600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
50	chr5:1877400-1877600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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