Variant report

Variant	esv3392200
Chromosome Location	chr5:1408802-1411300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1407993..1411538-chr5:1413820..1417067,3	K562	blood:
2	chr5:1409153..1410840-chr5:1412800..1414912,2	K562	blood:
3	chr5:1410300..1412091-chr5:1499870..1502587,2	MCF-7	breast:
4	chr5:1406843..1410156-chr5:1456046..1458369,3	MCF-7	breast:
5	chr5:1408393..1412171-chr5:1413541..1415179,3	MCF-7	breast:
6	chr5:1404571..1406990-chr5:1408962..1411228,2	MCF-7	breast:
7	chr5:1403700..1406168-chr5:1408661..1411509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142319	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs541560375	chr5:1408841-1408842	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56719408	chr5:1408847-1408848	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368867376	chr5:1408880-1408881	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28363109	chr5:1408897-1408898	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564810404	chr5:1408906-1408907	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117275738	chr5:1408945-1408946	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11133770	chr5:1408979-1408980	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534459203	chr5:1409012-1409013	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149407403	chr5:1409016-1409017	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529389248	chr5:1409040-1409041	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553141529	chr5:1409068-1409069	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551121480	chr5:1409081-1409082	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34128392	chr5:1409083-1409084	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556622482	chr5:1409087-1409088	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs8179032	chr5:1409109-1409110	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576122531	chr5:1409113-1409114	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs8179033	chr5:1409114-1409115	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111306562	chr5:1409127-1409128	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558546637	chr5:1409128-1409129	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs8179034	chr5:1409169-1409170	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147974193	chr5:1409171-1409172	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373567571	chr5:1409220-1409221	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs8179035	chr5:1409226-1409227	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75916702	chr5:1409228-1409229	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373232140	chr5:1409259-1409260	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376531914	chr5:1409277-1409278	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546373953	chr5:1409299-1409300	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536097059	chr5:1409317-1409318	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567943679	chr5:1409329-1409330	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199589538	chr5:1409340-1409341	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535174431	chr5:1409356-1409357	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146180782	chr5:1409374-1409375	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575930083	chr5:1409436-1409437	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377115546	chr5:1409459-1409460	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574853765	chr5:1409460-1409461	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113121109	chr5:1409480-1409481	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73030138	chr5:1409482-1409483	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148590368	chr5:1409502-1409503	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28363108	chr5:1409528-1409529	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540602356	chr5:1409577-1409578	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562242794	chr5:1409692-1409693	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28363107	chr5:1409693-1409694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2245660	chr5:1409719-1409720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562976050	chr5:1409720-1409721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533148704	chr5:1409740-1409741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs28363106	chr5:1409741-1409742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150541873	chr5:1409773-1409774	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560319669	chr5:1409776-1409777	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528367688	chr5:1409778-1409779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112121702	chr5:1409779-1409780	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Lung squamous cell carcinoma	22363434	CNVD
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
Intellectual disability	22102821	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
Ovarian cancer	21720365	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
Epilepsy	20502679	CNVD
Lung adenocarcinoma	17982442	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1408600-1409000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:1408600-1409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:1408800-1409600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:1408800-1410000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:1409000-1409200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr5:1409000-1409200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:1409000-1409200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:1409000-1409600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:1409200-1409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:1409600-1413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:1410000-1412400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:1410400-1410600	Bivalent Enhancer	Placenta	Placenta
13	chr5:1410600-1411000	ZNF genes & repeats	Spleen	Spleen
14	chr5:1411000-1412400	Weak transcription	Spleen	Spleen

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