Variant report

Variant	nsv823088
Chromosome Location	chr5:60572580-60577406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60560892..60563443-chr5:60571695..60574490,2	MCF-7	breast:
2	chr5:60568345..60570305-chr5:60576207..60578303,2	MCF-7	breast:
3	chr5:60458169..60460018-chr5:60573555..60575664,2	MCF-7	breast:
4	chr5:60576541..60577260-chr5:60600117..60600681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188725	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34099312	chr5:60572581-60572582	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557365403	chr5:60572599-60572600	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577318694	chr5:60572607-60572608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150770804	chr5:60572625-60572626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553550691	chr5:60572659-60572660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572182332	chr5:60572663-60572664	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540901062	chr5:60572679-60572680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561149886	chr5:60572689-60572690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559147966	chr5:60572699-60572700	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543317794	chr5:60572782-60572783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562906807	chr5:60572831-60572832	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532021190	chr5:60572869-60572870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372902780	chr5:60572954-60572955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527775121	chr5:60572998-60572999	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551854106	chr5:60573092-60573093	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565666391	chr5:60573100-60573101	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528895716	chr5:60573142-60573143	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185852720	chr5:60573143-60573144	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11747588	chr5:60573147-60573148	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201068604	chr5:60573179-60573180	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537305999	chr5:60573185-60573186	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370380319	chr5:60573259-60573260	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139242989	chr5:60573281-60573282	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570855333	chr5:60573299-60573300	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539868849	chr5:60573326-60573327	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs75045432	chr5:60573352-60573353	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553485766	chr5:60573373-60573374	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573221191	chr5:60573425-60573426	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142439869	chr5:60573453-60573454	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373436012	chr5:60573480-60573481	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10471510	chr5:60573487-60573488	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs543307173	chr5:60573492-60573493	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563291738	chr5:60573519-60573520	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576410512	chr5:60573520-60573521	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10471511	chr5:60573539-60573540	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568752420	chr5:60573566-60573567	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551090913	chr5:60573620-60573621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571204736	chr5:60573621-60573622	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71606679	chr5:60573623-60573624	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34213421	chr5:60573641-60573642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35771174	chr5:60573642-60573643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78548362	chr5:60573643-60573644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374422877	chr5:60573648-60573649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12521567	chr5:60573671-60573672	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368519158	chr5:60573727-60573728	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559317573	chr5:60573784-60573785	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190229941	chr5:60573836-60573837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548271249	chr5:60573867-60573868	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182061810	chr5:60573889-60573890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375606499	chr5:60573911-60573912	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute myeloid leukemia	20729466	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	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

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
4	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
5	chr5:60566000-60573200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:60566400-60573000	Weak transcription	Stomach Mucosa	stomach
7	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:60568200-60573000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:60568800-60573200	Weak transcription	HSMMtube	muscle
11	chr5:60569000-60572800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:60569000-60572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:60569400-60573000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:60569400-60573000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:60569400-60573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
19	chr5:60569600-60572800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:60569800-60573200	Weak transcription	Right Atrium	heart
21	chr5:60570000-60573200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:60570000-60573800	Enhancers	NHLF	lung
23	chr5:60570200-60573200	Enhancers	NHDF-Ad	bronchial
24	chr5:60570600-60573200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:60570600-60573200	Enhancers	HUVEC	blood vessel
26	chr5:60570800-60573200	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:60570800-60573600	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:60570800-60573800	Enhancers	A549	lung
29	chr5:60570800-60574400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:60571000-60572800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr5:60571000-60573400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:60571000-60573400	Enhancers	Placenta	Placenta
33	chr5:60571000-60573600	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:60571000-60573800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:60571000-60574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:60571000-60574400	Enhancers	NHEK	skin
37	chr5:60571200-60573000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:60571200-60573600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:60571200-60573600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:60571200-60573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:60571200-60573800	Enhancers	HMEC	breast
42	chr5:60571200-60574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:60571200-60576600	Weak transcription	Pancreas	Pancrea
44	chr5:60571600-60574600	Weak transcription	Small Intestine	intestine
45	chr5:60571800-60572800	Weak transcription	Adipose Nuclei	Adipose
46	chr5:60571800-60573000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:60571800-60573400	Enhancers	Esophagus	oesophagus
48	chr5:60571800-60574600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:60572000-60572800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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