Variant report

Variant	nsv516093
Chromosome Location	chr5:79411248-79412328
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	chr5:79410679..79412376-chr5:79415875..79417383,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4704610	chr5:79411248-79411249	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187462645	chr5:79411286-79411287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542415282	chr5:79411374-79411375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10474010	chr5:79411443-79411444	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150406424	chr5:79411518-79411519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560921828	chr5:79411541-79411542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529903700	chr5:79411554-79411555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138264222	chr5:79411625-79411626	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560033770	chr5:79411722-79411723	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528340692	chr5:79411756-79411757	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35835232	chr5:79411765-79411766	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551291088	chr5:79411833-79411834	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191468664	chr5:79411834-79411835	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183687525	chr5:79411911-79411912	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534978422	chr5:79411960-79411961	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114241897	chr5:79411967-79411968	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186856078	chr5:79411972-79411973	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564522660	chr5:79411980-79411981	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567712591	chr5:79412000-79412001	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536865876	chr5:79412063-79412064	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190060895	chr5:79412064-79412065	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567146148	chr5:79412094-79412095	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539375064	chr5:79412101-79412102	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558982131	chr5:79412112-79412113	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575754454	chr5:79412122-79412123	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143809824	chr5:79412163-79412164	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373937504	chr5:79412204-79412205	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555054512	chr5:79412232-79412233	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs441009	chr5:79412237-79412238	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10474607	chr5:79412238-79412239	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559945618	chr5:79412268-79412269	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182690186	chr5:79412273-79412274	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545735658	chr5:79412295-79412296	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4703798	chr5:79412328-79412329	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:79402400-79412200	Weak transcription	Left Ventricle	heart
4	chr5:79403000-79413000	Weak transcription	Dnd41	blood
5	chr5:79404800-79412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:79406200-79411600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:79406200-79421000	Weak transcription	Right Ventricle	heart
8	chr5:79406600-79411800	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:79406600-79412200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:79406600-79413000	Weak transcription	Ovary	ovary
11	chr5:79406800-79415200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:79407600-79412200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:79408000-79411600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:79408000-79412400	Weak transcription	Pancreas	Pancrea
16	chr5:79409000-79413000	Strong transcription	Primary T cells from cord blood	blood
17	chr5:79409400-79413000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:79409400-79413000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:79409400-79417600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:79409800-79420800	Weak transcription	Thymus	Thymus
21	chr5:79410000-79411800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:79410200-79417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:79410400-79413400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:79410400-79414000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:79410600-79412400	Enhancers	Fetal Heart	heart
27	chr5:79411000-79411400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:79411000-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:79411000-79413000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:79411000-79413200	Weak transcription	Fetal Thymus	thymus
31	chr5:79411000-79413800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:79411200-79413600	Weak transcription	Fetal Lung	lung
33	chr5:79411400-79413800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:79411600-79412000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:79411600-79412400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:79411600-79413600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:79411800-79412800	Enhancers	Fetal Muscle Leg	muscle
38	chr5:79411800-79414000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr5:79411800-79414400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:79411800-79415800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:79412000-79412400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:79412000-79412600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:79412000-79413200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:79412200-79412600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:79412200-79412600	Enhancers	Left Ventricle	heart
46	chr5:79412200-79413400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:79412200-79413800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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