Variant report

Variant	nsv289500
Chromosome Location	chr4:31069939-31076406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:260 , 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	rs570015579	chr4:31069940-31069941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187914048	chr4:31069958-31069959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558647322	chr4:31069988-31069989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576879945	chr4:31070017-31070018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534898399	chr4:31070034-31070035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529174519	chr4:31070057-31070058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189691537	chr4:31070068-31070069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575078001	chr4:31070072-31070073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549202736	chr4:31070097-31070098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182453409	chr4:31070143-31070144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149225914	chr4:31070162-31070163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28594812	chr4:31070219-31070220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543418075	chr4:31070229-31070230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs13151017	chr4:31070241-31070242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532233844	chr4:31070258-31070259	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537167872	chr4:31070267-31070268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115762053	chr4:31070289-31070290	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187143714	chr4:31070321-31070322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192974279	chr4:31070335-31070336	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548479241	chr4:31070352-31070353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569821735	chr4:31070412-31070413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185116222	chr4:31070419-31070420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550121746	chr4:31070437-31070438	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142468185	chr4:31070438-31070439	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534771322	chr4:31070468-31070469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553336325	chr4:31070486-31070487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188534476	chr4:31070575-31070576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570518681	chr4:31070584-31070585	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373854675	chr4:31070587-31070588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140451280	chr4:31070590-31070591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79056917	chr4:31070627-31070628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367701524	chr4:31070636-31070637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192950170	chr4:31070659-31070660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184520397	chr4:31070674-31070675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543480643	chr4:31070675-31070676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189352475	chr4:31070681-31070682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74560179	chr4:31070697-31070698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577061162	chr4:31070715-31070716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117971215	chr4:31070731-31070732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559145766	chr4:31070757-31070758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529903703	chr4:31070762-31070763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541631508	chr4:31070770-31070771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371176936	chr4:31070806-31070807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180800265	chr4:31070871-31070872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552180139	chr4:31070886-31070887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183792894	chr4:31070896-31070897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570508847	chr4:31070914-31070915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189479705	chr4:31070916-31070917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146109808	chr4:31070984-31070985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575880490	chr4:31070991-31070992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31058000-31077200	Weak transcription	Aorta	Aorta
2	chr4:31066400-31088600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:31067200-31070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:31067800-31073400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:31068800-31070200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:31069200-31070200	Enhancers	Fetal Heart	heart
7	chr4:31070000-31071000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:31070000-31071000	Enhancers	HUVEC	blood vessel
9	chr4:31070000-31071200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:31070200-31070400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:31070200-31070600	Flanking Active TSS	Fetal Heart	heart
12	chr4:31070200-31070800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:31070200-31070800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:31070200-31070800	Enhancers	NH-A	brain
15	chr4:31070200-31071000	Enhancers	Fetal Muscle Leg	muscle
16	chr4:31070200-31071000	Enhancers	HSMMtube	muscle
17	chr4:31070200-31071200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:31070400-31070600	Enhancers	Fetal Stomach	stomach
19	chr4:31070400-31070800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:31070600-31072000	Enhancers	Fetal Heart	heart
21	chr4:31070600-31088400	Weak transcription	Fetal Stomach	stomach
22	chr4:31070800-31071000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:31070800-31071200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:31070800-31073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:31071000-31071200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:31071000-31072600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:31071000-31073400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:31071000-31077000	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:31071200-31072400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:31071800-31072000	Enhancers	Stomach Smooth Muscle	stomach
31	chr4:31072000-31073200	Weak transcription	Fetal Heart	heart
32	chr4:31072400-31072600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:31072400-31072600	Enhancers	Fetal Lung	lung
34	chr4:31072600-31072800	Enhancers	Stomach Smooth Muscle	stomach
35	chr4:31072600-31073000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:31072600-31073400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:31072800-31075000	Weak transcription	Fetal Lung	lung
38	chr4:31073000-31073400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:31073200-31073600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:31073200-31073600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:31073200-31073800	Enhancers	NHEK	skin
42	chr4:31073200-31074400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:31073200-31074600	Enhancers	Fetal Heart	heart
44	chr4:31073400-31073600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:31073400-31075600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:31074600-31076000	Weak transcription	Fetal Heart	heart
47	chr4:31075600-31081400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:31076000-31078600	Enhancers	Fetal Heart	heart

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