Variant report

Variant	esv18843
Chromosome Location	chr4:21448552-21467379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-6	chr4:21454062-21463909	ucscGeneNc_uc003gqj_1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7978	chr4:21466361-21466381	MIMAT0031181

Extended variants
information (count: 691 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565257333	chr4:21448567-21448568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140639845	chr4:21448571-21448572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143775737	chr4:21448590-21448591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533114207	chr4:21448630-21448631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75209471	chr4:21448633-21448634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574989235	chr4:21448634-21448635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80285203	chr4:21448648-21448649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148157918	chr4:21448649-21448650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562862040	chr4:21448679-21448680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552716108	chr4:21448682-21448683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564661668	chr4:21448688-21448689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142028266	chr4:21448727-21448728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375595774	chr4:21448765-21448766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549391202	chr4:21448772-21448773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs415104	chr4:21448780-21448781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34709348	chr4:21448878-21448879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28432127	chr4:21448888-21448889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115180516	chr4:21449009-21449010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531781249	chr4:21449010-21449011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370499996	chr4:21449063-21449064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150713970	chr4:21449086-21449087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188326191	chr4:21449131-21449132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548988561	chr4:21449146-21449147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181083828	chr4:21449157-21449158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137957002	chr4:21449161-21449162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527445966	chr4:21449185-21449186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186588561	chr4:21449288-21449289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73249586	chr4:21449384-21449385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375593072	chr4:21449387-21449388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542242065	chr4:21449444-21449445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560411616	chr4:21449452-21449453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28818225	chr4:21449498-21449499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546097315	chr4:21449512-21449513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34491560	chr4:21449627-21449628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73105822	chr4:21449663-21449664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531888719	chr4:21449673-21449674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143517509	chr4:21449686-21449687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562037169	chr4:21449703-21449704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528883716	chr4:21449747-21449748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377462401	chr4:21449828-21449829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547352764	chr4:21449868-21449869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565651802	chr4:21449910-21449911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533016574	chr4:21449953-21449954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147153555	chr4:21449986-21449987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189847147	chr4:21449991-21449992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62295492	chr4:21450018-21450019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553991792	chr4:21450059-21450060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62295493	chr4:21450071-21450072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182061821	chr4:21450076-21450077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567547478	chr4:21450083-21450084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21439400-21449400	Weak transcription	Ovary	ovary
2	chr4:21448400-21465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:21448600-21449800	Enhancers	NHEK	skin
4	chr4:21448800-21449800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:21448800-21449800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:21448800-21449800	Enhancers	HMEC	breast
7	chr4:21449800-21454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:21450600-21450800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:21450800-21455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:21451600-21455200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:21452200-21453600	Enhancers	NH-A	brain
12	chr4:21452200-21455200	Enhancers	HMEC	breast
13	chr4:21452200-21456200	Enhancers	NHEK	skin
14	chr4:21452400-21453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:21452400-21456200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:21452600-21453000	Enhancers	HSMMtube	muscle
17	chr4:21452600-21453400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:21453400-21455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:21454000-21455800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:21455200-21455400	Bivalent Enhancer	HMEC	breast
21	chr4:21455200-21455600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:21455800-21456000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:21456600-21456800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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