Variant report

Variant	nsv963584
Chromosome Location	chr4:7558948-7562043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs181956845	chr4:7558967-7558968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542853545	chr4:7558972-7558973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545541480	chr4:7558977-7558978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187158995	chr4:7558979-7558980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73797032	chr4:7558990-7558991	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191221326	chr4:7559005-7559006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140819067	chr4:7559019-7559020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182505941	chr4:7559023-7559024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185938330	chr4:7559030-7559031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566039061	chr4:7559037-7559038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190179514	chr4:7559112-7559113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368329746	chr4:7559155-7559156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554733838	chr4:7559177-7559178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570201781	chr4:7559221-7559222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537925522	chr4:7559239-7559240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73084721	chr4:7559247-7559248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545024249	chr4:7559255-7559256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73084722	chr4:7559275-7559276	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376995735	chr4:7559278-7559279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182375225	chr4:7559307-7559308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529191290	chr4:7559313-7559314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372037513	chr4:7559318-7559319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187403110	chr4:7559326-7559327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544472367	chr4:7559339-7559340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542988313	chr4:7559351-7559352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567388404	chr4:7559352-7559353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561113072	chr4:7559369-7559370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192051815	chr4:7559397-7559398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543862774	chr4:7559418-7559419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28702913	chr4:7559442-7559443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75992574	chr4:7559476-7559477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147828890	chr4:7559480-7559481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559362047	chr4:7559508-7559509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184232008	chr4:7559553-7559554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10014162	chr4:7559563-7559564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76267353	chr4:7559564-7559565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188693645	chr4:7559567-7559568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80117321	chr4:7559569-7559570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571373293	chr4:7559622-7559623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142391013	chr4:7559676-7559677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528567767	chr4:7559696-7559697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553797204	chr4:7559701-7559702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28519697	chr4:7559733-7559734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116237241	chr4:7559767-7559768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35260897	chr4:7559776-7559777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs28468677	chr4:7559784-7559785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376946718	chr4:7559797-7559798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114783374	chr4:7559801-7559802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146561683	chr4:7559826-7559827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73214658	chr4:7559916-7559917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7558200-7565400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:7558600-7560000	Enhancers	HMEC	breast
3	chr4:7558800-7559800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:7558800-7559800	Enhancers	HSMM	muscle
5	chr4:7558800-7560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:7558800-7560000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:7558800-7560000	Enhancers	NHEK	skin
8	chr4:7558800-7560000	Enhancers	Osteobl	bone
9	chr4:7558800-7560200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:7558800-7560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:7559000-7559800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:7559000-7559800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:7559000-7559800	Enhancers	NH-A	brain
14	chr4:7559000-7559800	Enhancers	NHDF-Ad	bronchial
15	chr4:7559000-7560000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:7559000-7560000	Enhancers	HSMMtube	muscle
17	chr4:7559000-7560400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr4:7559400-7559800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:7559400-7559800	Enhancers	HepG2	liver
20	chr4:7559400-7560400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7559800-7560600	Weak transcription	HepG2	liver
22	chr4:7559800-7562600	Enhancers	Liver	Liver
23	chr4:7560200-7560400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr4:7560200-7560400	Enhancers	Pancreas	Pancrea
25	chr4:7560400-7561000	Weak transcription	Pancreas	Pancrea
26	chr4:7560400-7561600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:7560600-7562600	Enhancers	HepG2	liver
28	chr4:7561000-7562800	Enhancers	Pancreas	Pancrea

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