Variant report

Variant	nsv518494
Chromosome Location	chr5:115864578-115869260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs153645	chr5:115864578-115864579	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183865755	chr5:115864597-115864598	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141358508	chr5:115864624-115864625	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187760908	chr5:115864631-115864632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542811209	chr5:115864689-115864690	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113009870	chr5:115864770-115864771	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562745897	chr5:115864775-115864776	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61201349	chr5:115864792-115864793	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545395837	chr5:115864854-115864855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199802949	chr5:115864858-115864859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565257131	chr5:115864860-115864861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527665288	chr5:115864865-115864866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs61261004	chr5:115864875-115864876	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561356531	chr5:115864902-115864903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377265692	chr5:115864943-115864944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs13181662	chr5:115865001-115865002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192676821	chr5:115865022-115865023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs568964624	chr5:115865057-115865058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs367543663	chr5:115865085-115865086	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116482640	chr5:115865104-115865105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs55759705	chr5:115865167-115865168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79056661	chr5:115865172-115865173	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549957110	chr5:115865273-115865274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564986486	chr5:115865292-115865293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs56331457	chr5:115865324-115865325	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76693887	chr5:115865363-115865364	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376035782	chr5:115865413-115865414	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573354404	chr5:115865419-115865420	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547415178	chr5:115865429-115865430	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112532727	chr5:115865489-115865490	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535952450	chr5:115865503-115865504	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375997564	chr5:115865523-115865524	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556686751	chr5:115865529-115865530	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74520524	chr5:115865560-115865561	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184905154	chr5:115865608-115865609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs59890828	chr5:115865618-115865619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12654990	chr5:115865640-115865641	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs1032855	chr5:115865647-115865648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78618627	chr5:115865670-115865671	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538010018	chr5:115865717-115865718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs146623552	chr5:115865718-115865719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116706593	chr5:115865754-115865755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs145093476	chr5:115865796-115865797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556717475	chr5:115865808-115865809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530174633	chr5:115865972-115865973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543948700	chr5:115865979-115865980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578140634	chr5:115865989-115865990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112785486	chr5:115866049-115866050	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531381355	chr5:115866056-115866057	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551586120	chr5:115866122-115866123	Weak transcription Enhancers Genic enhancers	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115828200-115865400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:115845800-115867200	Weak transcription	Right Ventricle	heart
3	chr5:115857400-115865400	Weak transcription	Ovary	ovary
4	chr5:115858200-115867000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:115858400-115873600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:115859400-115870000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:115860000-115865400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:115860000-115869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:115860000-115872000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:115860000-115872200	Enhancers	HepG2	liver
11	chr5:115860200-115867000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:115860600-115865600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:115861000-115870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:115861200-115865600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:115861600-115867000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:115862000-115864600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:115862000-115864800	Enhancers	Liver	Liver
18	chr5:115863000-115864800	Enhancers	Fetal Brain Female	brain
19	chr5:115863200-115865800	Enhancers	Fetal Lung	lung
20	chr5:115863400-115865200	Enhancers	Fetal Heart	heart
21	chr5:115863400-115865600	Enhancers	Fetal Stomach	stomach
22	chr5:115863400-115865800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:115863600-115867000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:115863800-115865200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:115863800-115865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:115864000-115864600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:115864000-115864600	Enhancers	Fetal Brain Male	brain
28	chr5:115864000-115864600	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr5:115864000-115864600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr5:115864000-115864600	Enhancers	Pancreas	Pancrea
31	chr5:115864000-115864600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr5:115864000-115864600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:115864000-115864800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:115864000-115864800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr5:115864000-115864800	Enhancers	Placenta	Placenta
36	chr5:115864000-115864800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:115864000-115865000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:115864000-115865000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:115864000-115865200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr5:115864000-115865600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:115864000-115865800	Enhancers	Small Intestine	intestine
42	chr5:115864000-115866000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:115864000-115866000	Enhancers	Fetal Muscle Leg	muscle
44	chr5:115864000-115866200	Enhancers	Fetal Kidney	kidney
45	chr5:115864000-115867200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:115864200-115864600	Enhancers	Adipose Nuclei	Adipose
47	chr5:115864200-115864600	Active TSS	Colon Smooth Muscle	Colon
48	chr5:115864200-115864600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr5:115864200-115864600	Enhancers	Psoas Muscle	Psoas
50	chr5:115864200-115864800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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