Variant report

Variant	nsv517704
Chromosome Location	chr5:115596120-115617297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
2	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:
3	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
4	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
5	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:
6	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:

Extended variants
information (count: 1118 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4921086	chr5:115596120-115596121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546485709	chr5:115596146-115596147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559785410	chr5:115596150-115596151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4466200	chr5:115596152-115596153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548470452	chr5:115596153-115596154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567055468	chr5:115596160-115596161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529751787	chr5:115596250-115596251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13362043	chr5:115596262-115596263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs181765304	chr5:115596273-115596274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4466201	chr5:115596277-115596278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs372953093	chr5:115596290-115596291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75455446	chr5:115596301-115596302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558861559	chr5:115596332-115596333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539097518	chr5:115596367-115596368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139729776	chr5:115596487-115596488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185385718	chr5:115596561-115596562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72806937	chr5:115596572-115596573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574656966	chr5:115596578-115596579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143183192	chr5:115596582-115596583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557450683	chr5:115596583-115596584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572451911	chr5:115596629-115596630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543391778	chr5:115596635-115596636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111871853	chr5:115596639-115596640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545874024	chr5:115596640-115596641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374744118	chr5:115596656-115596657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527729316	chr5:115596661-115596662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141357151	chr5:115596667-115596668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372091009	chr5:115596671-115596672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188182309	chr5:115596745-115596746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542082035	chr5:115596757-115596758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561415830	chr5:115596776-115596777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150764368	chr5:115596826-115596827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530961753	chr5:115596837-115596838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4244402	chr5:115596842-115596843	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569649182	chr5:115596844-115596845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532163144	chr5:115596849-115596850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138139597	chr5:115596853-115596854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77537278	chr5:115596857-115596858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534634538	chr5:115596858-115596859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548458702	chr5:115596865-115596866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75791983	chr5:115596893-115596894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537234005	chr5:115596917-115596918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72806938	chr5:115596934-115596935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577243519	chr5:115596937-115596938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56659474	chr5:115596945-115596946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180815928	chr5:115597015-115597016	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573160467	chr5:115597021-115597022	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4921087	chr5:115597025-115597026	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10043228	chr5:115597048-115597049	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
50	rs186498770	chr5:115597057-115597058	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
2	chr5:115579600-115610600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:115584800-115603600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:115585800-115601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:115586600-115603000	Weak transcription	Dnd41	blood
6	chr5:115586800-115597000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:115586800-115608000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:115586800-115609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:115587000-115599800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:115591000-115607200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:115592000-115599600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:115592000-115607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:115593000-115601400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:115595000-115601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:115595200-115597800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:115595400-115597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:115595600-115596600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:115595800-115603800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:115596200-115596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:115596200-115596800	Enhancers	Colon Smooth Muscle	Colon
23	chr5:115596400-115598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:115596600-115597600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:115596800-115597800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:115597000-115597400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:115597000-115597600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:115597000-115599000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:115597000-115608200	Weak transcription	NHDF-Ad	bronchial
30	chr5:115597400-115599600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:115597600-115599800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:115597800-115599800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:115597800-115603400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:115598400-115598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:115598600-115598800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:115599000-115601400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:115599600-115600400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:115599600-115600400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:115599600-115600400	Strong transcription	Primary T cells from cord blood	blood
41	chr5:115599600-115600600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:115599600-115602200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:115599800-115600400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:115599800-115600400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:115599800-115600400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:115599800-115600600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:115600000-115600400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:115600200-115601000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:115600400-115601000	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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