Variant report

Variant	nsv516728
Chromosome Location	chr4:62733437-62739674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13110933	chr4:62733437-62733438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569126743	chr4:62733533-62733534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532850965	chr4:62733558-62733559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73823275	chr4:62733599-62733600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566128693	chr4:62733615-62733616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75554889	chr4:62733627-62733628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143164806	chr4:62733650-62733651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567400948	chr4:62733696-62733697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369241178	chr4:62733698-62733699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538162723	chr4:62733733-62733734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77501432	chr4:62733740-62733741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577946878	chr4:62733803-62733804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150883922	chr4:62733807-62733808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558327906	chr4:62733808-62733809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528244197	chr4:62733825-62733826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367996876	chr4:62733826-62733827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573179100	chr4:62733864-62733865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546803137	chr4:62733872-62733873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551139619	chr4:62733880-62733881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540221290	chr4:62733919-62733920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566409710	chr4:62733921-62733922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139393565	chr4:62733947-62733948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569725449	chr4:62733950-62733951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544541119	chr4:62734053-62734054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113636988	chr4:62734107-62734108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533395484	chr4:62734205-62734206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551053546	chr4:62734223-62734224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193184179	chr4:62734244-62734245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527381315	chr4:62734257-62734258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149636678	chr4:62734261-62734262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185112650	chr4:62734453-62734454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144406750	chr4:62734477-62734478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556522427	chr4:62734478-62734479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35586686	chr4:62734489-62734490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571461022	chr4:62734531-62734532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536344184	chr4:62734579-62734580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538874211	chr4:62734596-62734597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5010235	chr4:62734625-62734626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76337454	chr4:62734652-62734653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573229719	chr4:62734658-62734659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139094633	chr4:62734674-62734675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199637436	chr4:62734678-62734679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548761515	chr4:62734688-62734689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375555324	chr4:62734689-62734690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574009454	chr4:62734696-62734697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190702521	chr4:62734722-62734723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192388374	chr4:62734734-62734735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577928610	chr4:62734737-62734738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183632280	chr4:62734765-62734766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13143429	chr4:62734783-62734784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62724600-62742800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:62732000-62738600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:62732800-62733800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:62732800-62734200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:62733000-62734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:62733800-62734400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:62734200-62734400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:62734200-62734600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:62734600-62738400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:62737800-62739800	Enhancers	Brain Germinal Matrix	brain
11	chr4:62737800-62740200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:62738000-62738600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:62738400-62738600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:62738400-62739200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:62738400-62739600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:62738600-62738800	Active TSS	Brain Hippocampus Middle	brain
17	chr4:62738600-62739000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:62738600-62739000	Active TSS	Brain Substantia Nigra	brain
19	chr4:62738600-62739200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:62738800-62739000	Enhancers	Fetal Kidney	kidney
21	chr4:62738800-62739200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr4:62738800-62739800	Enhancers	Brain Angular Gyrus	brain
23	chr4:62738800-62739800	Active TSS	Brain Anterior Caudate	brain
24	chr4:62739000-62739200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:62739000-62739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:62739000-62740000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:62739000-62740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:62739200-62739800	Enhancers	Brain Substantia Nigra	brain
29	chr4:62739200-62740000	Enhancers	Brain Hippocampus Middle	brain
30	chr4:62739200-62740200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:62739600-62740000	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:62739600-62742600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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