Variant report

Variant	esv3323587
Chromosome Location	chr4:7316101-7318599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559395538	chr4:7316108-7316109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367673842	chr4:7316114-7316115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528054925	chr4:7316128-7316129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529886582	chr4:7316135-7316136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60533239	chr4:7316152-7316153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548945793	chr4:7316153-7316154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143256971	chr4:7316167-7316168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570352127	chr4:7316191-7316192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28542004	chr4:7316202-7316203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570889605	chr4:7316212-7316213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376784808	chr4:7316216-7316217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558562006	chr4:7316227-7316228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553234013	chr4:7316228-7316229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185298772	chr4:7316267-7316268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535672891	chr4:7316275-7316276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557103357	chr4:7316285-7316286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112158488	chr4:7316286-7316287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12651386	chr4:7316317-7316318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546120818	chr4:7316352-7316353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558007257	chr4:7316355-7316356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150444510	chr4:7316361-7316362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12651407	chr4:7316379-7316380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17756103	chr4:7316392-7316393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559191845	chr4:7316450-7316451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369764159	chr4:7316462-7316463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529768168	chr4:7316463-7316464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552755824	chr4:7316474-7316475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541675398	chr4:7316486-7316487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373879429	chr4:7316492-7316493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530703124	chr4:7316499-7316500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552554820	chr4:7316511-7316512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542450766	chr4:7316521-7316522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397880294	chr4:7316528-7316529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28418783	chr4:7316539-7316540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56262149	chr4:7316543-7316544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28550972	chr4:7316544-7316545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10005738	chr4:7316556-7316557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574579781	chr4:7316560-7316561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570753158	chr4:7316654-7316655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28510840	chr4:7316694-7316695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190406234	chr4:7316707-7316708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182613169	chr4:7316717-7316718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535906494	chr4:7316720-7316721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113590823	chr4:7316758-7316759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11726185	chr4:7316762-7316763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369449952	chr4:7316774-7316775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138615607	chr4:7316805-7316806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558068882	chr4:7316837-7316838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6842090	chr4:7316881-7316882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540693581	chr4:7316902-7316903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	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	chr4:7307200-7316200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr4:7311800-7326400	Weak transcription	Fetal Brain Male	brain
3	chr4:7313800-7316400	Enhancers	Brain Angular Gyrus	brain
4	chr4:7315200-7317400	Weak transcription	Right Ventricle	heart
5	chr4:7315600-7324200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:7315800-7317000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:7315800-7322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7316000-7317000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:7316000-7317000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:7316000-7317000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:7316000-7317000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:7316000-7317000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:7316000-7317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7316000-7319400	Weak transcription	Fetal Stomach	stomach
15	chr4:7316200-7316800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:7316400-7320000	Weak transcription	Brain Angular Gyrus	brain
17	chr4:7316800-7317000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:7317000-7317400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:7317000-7317400	Enhancers	Brain Anterior Caudate	brain
20	chr4:7317000-7317400	Enhancers	Brain Hippocampus Middle	brain
21	chr4:7317000-7317600	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:7317000-7317800	Enhancers	Brain Substantia Nigra	brain
23	chr4:7317200-7317400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:7317400-7317600	Enhancers	Right Ventricle	heart
25	chr4:7317400-7319800	Weak transcription	Brain Anterior Caudate	brain
26	chr4:7317400-7319800	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:7317600-7319800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:7317600-7320800	Weak transcription	Right Ventricle	heart

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