Variant report

Variant	esv3435903
Chromosome Location	chr4:60430857-60435255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs76492190	chr4:60430858-60430859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376582290	chr4:60430877-60430878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554752146	chr4:60430887-60430888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183950554	chr4:60430893-60430894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537388740	chr4:60430904-60430905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10002961	chr4:60430906-60430907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577198251	chr4:60430959-60430960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2063653	chr4:60430967-60430968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553469312	chr4:60430996-60430997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567788174	chr4:60431029-60431030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542725350	chr4:60431031-60431032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35283033	chr4:60431056-60431057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56999048	chr4:60431085-60431086	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115604448	chr4:60431129-60431130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532462027	chr4:60431163-60431164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531626646	chr4:60431171-60431172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543384495	chr4:60431174-60431175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145071136	chr4:60431178-60431179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563005399	chr4:60431183-60431184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7670444	chr4:60431196-60431197	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531981881	chr4:60431199-60431200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547002797	chr4:60431208-60431209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143807200	chr4:60431221-60431222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548370216	chr4:60431222-60431223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111792320	chr4:60431234-60431235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10003346	chr4:60431250-60431251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537729153	chr4:60431276-60431277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548383700	chr4:60431299-60431300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146836280	chr4:60431433-60431434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188656935	chr4:60431481-60431482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191972406	chr4:60431548-60431549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534671309	chr4:60431558-60431559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140509485	chr4:60431607-60431608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150436571	chr4:60431668-60431669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535997152	chr4:60431683-60431684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73200956	chr4:60431710-60431711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576183520	chr4:60431726-60431727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543622513	chr4:60431731-60431732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564996858	chr4:60431751-60431752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577073992	chr4:60431768-60431769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540577032	chr4:60431777-60431778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543570449	chr4:60431837-60431838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184394890	chr4:60431848-60431849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529730909	chr4:60431853-60431854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555498191	chr4:60431889-60431890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561218609	chr4:60431915-60431916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530978059	chr4:60431916-60431917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10517468	chr4:60431954-60431955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs7657581	chr4:60431961-60431962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs62305772	chr4:60431974-60431975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
Renal cell carcinoma	18194544	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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60427400-60431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:60430600-60431800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:60431200-60431800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:60431800-60436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:60431800-60439000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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