Variant report

Variant	nsv964247
Chromosome Location	chr4:21720516-21724467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-4	chr4:21720100-21720649	ENSG00000248343.1

Extended variants
information (count: 45 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534407438	chr4:21720521-21720522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140365514	chr4:21720525-21720526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs7679766	chr4:21720537-21720538	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182525355	chr4:21720538-21720539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs571420073	chr4:21720600-21720601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187751003	chr4:21720627-21720628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs150381889	chr4:21720641-21720642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs186239821	chr4:21723404-21723405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369966890	chr4:21723408-21723409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554559560	chr4:21723471-21723472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142040682	chr4:21723489-21723490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375479919	chr4:21723493-21723494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550984071	chr4:21723513-21723514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569287423	chr4:21723516-21723517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536782642	chr4:21723581-21723582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572763987	chr4:21723612-21723613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535126024	chr4:21723650-21723651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555397506	chr4:21723690-21723691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145550225	chr4:21723740-21723741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567499026	chr4:21723799-21723800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534519264	chr4:21723873-21723874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553089760	chr4:21723924-21723925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571464529	chr4:21723939-21723940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538909846	chr4:21723945-21723946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558215108	chr4:21723946-21723947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562500279	chr4:21723978-21723979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576492112	chr4:21723985-21723986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543975326	chr4:21723986-21723987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575423159	chr4:21723987-21723988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113677239	chr4:21724018-21724019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574031431	chr4:21724038-21724039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541274821	chr4:21724049-21724050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559869266	chr4:21724107-21724108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144453164	chr4:21724160-21724161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533473649	chr4:21724193-21724194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545279406	chr4:21724199-21724200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191901750	chr4:21724205-21724206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530420009	chr4:21724212-21724213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548915959	chr4:21724216-21724217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138465736	chr4:21724249-21724250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11730531	chr4:21724276-21724277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183907364	chr4:21724298-21724299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73115714	chr4:21724325-21724326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187201703	chr4:21724326-21724327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190840929	chr4:21724419-21724420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21723400-21724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:21723600-21724000	Enhancers	Fetal Heart	heart
3	chr4:21723800-21724200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:21723800-21724200	Enhancers	Fetal Brain Male	brain
5	chr4:21723800-21724400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:21723800-21724400	Enhancers	HMEC	breast
7	chr4:21724000-21727800	Weak transcription	Fetal Heart	heart
8	chr4:21724200-21726800	Weak transcription	Fetal Brain Male	brain

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