Variant report

Variant	nsv598085
Chromosome Location	chr5:49406720-49439390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1775 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76071439	chr5:49406720-49406721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200907475	chr5:49406728-49406729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201784217	chr5:49406733-49406734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372777362	chr5:49406772-49406773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202229116	chr5:49406803-49406804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200196989	chr5:49406805-49406806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142676624	chr5:49406820-49406821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371298307	chr5:49406838-49406839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202073987	chr5:49406856-49406857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188122534	chr5:49406976-49406977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112961774	chr5:49406989-49406990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191345403	chr5:49407036-49407037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143004432	chr5:49407051-49407052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112469589	chr5:49407108-49407109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369321188	chr5:49407123-49407124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372835367	chr5:49407124-49407125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200317653	chr5:49407160-49407161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369411584	chr5:49407185-49407186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373932301	chr5:49407190-49407191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62390086	chr5:49407215-49407216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376899276	chr5:49407225-49407226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371449517	chr5:49407256-49407257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372673650	chr5:49407262-49407263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141173273	chr5:49407290-49407291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150741736	chr5:49407307-49407308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375080302	chr5:49407328-49407329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139590024	chr5:49407339-49407340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112133823	chr5:49407359-49407360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147514581	chr5:49407360-49407361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200638809	chr5:49407382-49407383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79764226	chr5:49407390-49407391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150062578	chr5:49407405-49407406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372722013	chr5:49407429-49407430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201248172	chr5:49407432-49407433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112673301	chr5:49407456-49407457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183660945	chr5:49407469-49407470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200748654	chr5:49407479-49407480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371658823	chr5:49407483-49407484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374855693	chr5:49407492-49407493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201920752	chr5:49407493-49407494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369608459	chr5:49407496-49407497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148714627	chr5:49407497-49407498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371773942	chr5:49407498-49407499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200937671	chr5:49407503-49407504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112601764	chr5:49407515-49407516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368373341	chr5:49407530-49407531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373879567	chr5:49407543-49407544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142291161	chr5:49407568-49407569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111365958	chr5:49407589-49407590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188316988	chr5:49407605-49407606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49406000-49406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:49406000-49407400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:49406000-49409400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:49406000-49409600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:49406000-49409600	Weak transcription	Fetal Heart	heart
6	chr5:49406000-49409600	Weak transcription	Left Ventricle	heart
7	chr5:49406000-49409600	Weak transcription	Right Ventricle	heart
8	chr5:49406000-49409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:49406000-49410600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:49406000-49413800	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:49406000-49413800	Weak transcription	Stomach Mucosa	stomach
12	chr5:49406000-49414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:49406000-49414200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:49406000-49414200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:49406000-49414200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:49406000-49414200	Weak transcription	Aorta	Aorta
17	chr5:49406000-49414200	Weak transcription	Brain Angular Gyrus	brain
18	chr5:49406000-49414200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:49406000-49414200	Weak transcription	Brain Substantia Nigra	brain
20	chr5:49406000-49414200	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:49406000-49414200	Weak transcription	Pancreas	Pancrea
22	chr5:49406000-49414200	Weak transcription	Psoas Muscle	Psoas
23	chr5:49406000-49414200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:49406000-49414200	Weak transcription	Thymus	Thymus
25	chr5:49406000-49414200	Weak transcription	Dnd41	blood
26	chr5:49406000-49414200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:49406000-49414200	Weak transcription	NH-A	brain
28	chr5:49406000-49414400	Weak transcription	HSMMtube	muscle
29	chr5:49406200-49414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:49406600-49407200	Weak transcription	Fetal Lung	lung
31	chr5:49407400-49407600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:49407600-49407800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:49407600-49407800	Weak transcription	Brain Anterior Caudate	brain
34	chr5:49407600-49407800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:49407600-49413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:49407800-49409400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:49409600-49409800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:49409600-49410000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr5:49409600-49410000	ZNF genes & repeats	Fetal Heart	heart
40	chr5:49409600-49410000	ZNF genes & repeats	Right Ventricle	heart
41	chr5:49409600-49410000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr5:49410000-49410400	Weak transcription	Left Ventricle	heart
43	chr5:49410000-49413600	Weak transcription	Right Ventricle	heart
44	chr5:49410000-49413800	Weak transcription	Fetal Heart	heart
45	chr5:49410000-49414200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:49410600-49410800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
47	chr5:49410600-49413800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:49412600-49414200	Weak transcription	Left Ventricle	heart
49	chr5:49413600-49414200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:49413600-49414200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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