Variant report

Variant	nsv441955
Chromosome Location	chr5:60573147-60576860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000188725	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs11747588	chr5:60573147-60573148	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201068604	chr5:60573179-60573180	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537305999	chr5:60573185-60573186	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370380319	chr5:60573259-60573260	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139242989	chr5:60573281-60573282	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570855333	chr5:60573299-60573300	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539868849	chr5:60573326-60573327	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75045432	chr5:60573352-60573353	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553485766	chr5:60573373-60573374	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573221191	chr5:60573425-60573426	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142439869	chr5:60573453-60573454	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373436012	chr5:60573480-60573481	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10471510	chr5:60573487-60573488	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs543307173	chr5:60573492-60573493	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563291738	chr5:60573519-60573520	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576410512	chr5:60573520-60573521	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10471511	chr5:60573539-60573540	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568752420	chr5:60573566-60573567	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551090913	chr5:60573620-60573621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571204736	chr5:60573621-60573622	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71606679	chr5:60573623-60573624	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34213421	chr5:60573641-60573642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35771174	chr5:60573642-60573643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78548362	chr5:60573643-60573644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374422877	chr5:60573648-60573649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12521567	chr5:60573671-60573672	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368519158	chr5:60573727-60573728	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559317573	chr5:60573784-60573785	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190229941	chr5:60573836-60573837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548271249	chr5:60573867-60573868	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182061810	chr5:60573889-60573890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375606499	chr5:60573911-60573912	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117925581	chr5:60573938-60573939	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370649610	chr5:60573966-60573967	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186596097	chr5:60573985-60573986	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76926804	chr5:60573986-60573987	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75689531	chr5:60574020-60574021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190573142	chr5:60574021-60574022	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566859787	chr5:60574027-60574028	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535540690	chr5:60574058-60574059	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181356801	chr5:60574072-60574073	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185681126	chr5:60574085-60574086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145947435	chr5:60574149-60574150	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139795734	chr5:60574150-60574151	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7723372	chr5:60574166-60574167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190000664	chr5:60574186-60574187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545715019	chr5:60574258-60574259	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367767322	chr5:60574266-60574267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572835254	chr5:60574270-60574271	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541556569	chr5:60574278-60574279	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:257 , 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	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:60568800-60573200	Weak transcription	HSMMtube	muscle
9	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr5:60569400-60573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
13	chr5:60569800-60573200	Weak transcription	Right Atrium	heart
14	chr5:60570000-60573200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:60570000-60573800	Enhancers	NHLF	lung
16	chr5:60570200-60573200	Enhancers	NHDF-Ad	bronchial
17	chr5:60570600-60573200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:60570600-60573200	Enhancers	HUVEC	blood vessel
19	chr5:60570800-60573200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:60570800-60573600	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:60570800-60573800	Enhancers	A549	lung
22	chr5:60570800-60574400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:60571000-60573400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:60571000-60573400	Enhancers	Placenta	Placenta
25	chr5:60571000-60573600	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:60571000-60573800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:60571000-60574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:60571000-60574400	Enhancers	NHEK	skin
29	chr5:60571200-60573600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:60571200-60573600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:60571200-60573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:60571200-60573800	Enhancers	HMEC	breast
33	chr5:60571200-60574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:60571200-60576600	Weak transcription	Pancreas	Pancrea
35	chr5:60571600-60574600	Weak transcription	Small Intestine	intestine
36	chr5:60571800-60573400	Enhancers	Esophagus	oesophagus
37	chr5:60571800-60574600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:60572000-60573200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:60572000-60573200	Weak transcription	Spleen	Spleen
41	chr5:60572000-60573400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:60572000-60573400	Weak transcription	NH-A	brain
43	chr5:60572000-60574000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:60572000-60577000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:60572400-60573200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr5:60572400-60573800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:60572600-60573400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:60572600-60573600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:60572600-60573600	Weak transcription	Lung	lung

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