Variant report

Variant	nsv968182
Chromosome Location	chr5:61685472-61686628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61683430..61685907-chr5:61688335..61689954,2	MCF-7	breast:
2	chr5:61680086..61685494-chr5:61685831..61690801,7	MCF-7	breast:
3	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
4	chr5:61680177..61684134-chr5:61684359..61686623,3	K562	blood:
5	chr5:61686362..61687960-chr5:61708194..61709938,2	MCF-7	breast:
6	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:
7	chr5:61680991..61682651-chr5:61682681..61685489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086189	chromatin interactions
ENSG00000086200	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181672999	chr5:61685514-61685515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560240500	chr5:61685538-61685539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184990762	chr5:61685600-61685601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189548233	chr5:61685627-61685628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534474801	chr5:61685724-61685725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181012969	chr5:61685727-61685728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140736010	chr5:61685821-61685822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536357545	chr5:61685935-61685936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3822487	chr5:61685944-61685945	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs185335393	chr5:61685980-61685981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545447755	chr5:61685990-61685991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545950753	chr5:61686072-61686073	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189747658	chr5:61686184-61686185	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577880793	chr5:61686202-61686203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543307951	chr5:61686209-61686210	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561471059	chr5:61686212-61686213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540473381	chr5:61686289-61686290	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560098202	chr5:61686313-61686314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529125236	chr5:61686351-61686352	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542408048	chr5:61686373-61686374	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562267816	chr5:61686412-61686413	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111269197	chr5:61686453-61686454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181975353	chr5:61686456-61686457	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571197192	chr5:61686478-61686479	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187141346	chr5:61686485-61686486	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201377667	chr5:61686486-61686487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138970333	chr5:61686546-61686547	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536894522	chr5:61686553-61686554	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540502594	chr5:61686603-61686604	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556773433	chr5:61686620-61686621	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115925120	chr5:61686621-61686622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61642400-61697400	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:61642600-61688400	Weak transcription	Right Ventricle	heart
3	chr5:61642600-61696000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:61642600-61699200	Weak transcription	Gastric	stomach
5	chr5:61643000-61697000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:61644000-61689000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:61645400-61689200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:61647000-61690000	Weak transcription	Spleen	Spleen
9	chr5:61647600-61698000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:61656200-61698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:61656800-61687800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:61658400-61691800	Strong transcription	Dnd41	blood
13	chr5:61659800-61695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:61661800-61698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:61662000-61697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:61662000-61697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:61664600-61689200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:61665400-61699000	Weak transcription	Esophagus	oesophagus
19	chr5:61665600-61688000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:61666800-61698000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:61667000-61691200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:61667000-61691600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:61667000-61697200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:61667400-61697200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:61667600-61697800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:61667600-61698000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:61668000-61698000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:61668400-61685600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:61668600-61697000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:61669200-61690200	Strong transcription	HUVEC	blood vessel
31	chr5:61669400-61685800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:61669400-61690800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:61669600-61687600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:61670000-61697200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:61670800-61690000	Weak transcription	Aorta	Aorta
36	chr5:61672000-61698600	Weak transcription	Stomach Mucosa	stomach
37	chr5:61675000-61697800	Weak transcription	Small Intestine	intestine
38	chr5:61676800-61689000	Weak transcription	Ovary	ovary
39	chr5:61676800-61697800	Weak transcription	Right Atrium	heart
40	chr5:61676800-61699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:61677000-61685800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:61677000-61689400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:61679000-61687000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr5:61679200-61691000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:61679400-61690000	Weak transcription	Lung	lung
46	chr5:61679400-61692200	Strong transcription	Fetal Thymus	thymus
47	chr5:61679600-61691200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr5:61679600-61697000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:61679600-61697600	Strong transcription	Liver	Liver
50	chr5:61680000-61686800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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