Variant report

Variant	nsv593816
Chromosome Location	chr4:22060315-22069379
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-5	chr4:22060707-22060983	ENSG00000250039.3
2	lnc-PACRGL-5	chr4:22060696-22060983	ENSG00000250039.2

Extended variants
information (count: 367 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10031901	chr4:22060315-22060316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9291434	chr4:22060318-22060319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565396708	chr4:22060351-22060352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371336226	chr4:22060364-22060365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539148468	chr4:22060402-22060403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187920211	chr4:22060425-22060426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576023268	chr4:22060438-22060439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547734115	chr4:22060476-22060477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192136301	chr4:22060504-22060505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372142735	chr4:22060510-22060511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116603388	chr4:22060558-22060559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138916581	chr4:22060560-22060561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12108644	chr4:22060566-22060567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572547290	chr4:22060578-22060579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189518955	chr4:22060612-22060613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202097206	chr4:22060652-22060653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147859764	chr4:22060654-22060655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200776598	chr4:22060661-22060662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111445984	chr4:22060662-22060663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71193432	chr4:22060663-22060664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200134013	chr4:22060664-22060665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201118220	chr4:22060665-22060666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564304640	chr4:22060666-22060667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200691567	chr4:22060684-22060685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10012036	chr4:22060732-22060733	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550202281	chr4:22060738-22060739	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs562442531	chr4:22060764-22060765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529550880	chr4:22060799-22060800	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547537393	chr4:22060840-22060841	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs13151262	chr4:22060889-22060890	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539111156	chr4:22060902-22060903	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550424628	chr4:22060939-22060940	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs149401587	chr4:22060967-22060968	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs369729639	chr4:22060996-22060997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572014661	chr4:22061007-22061008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145156459	chr4:22061008-22061009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537090788	chr4:22061022-22061023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571001609	chr4:22061048-22061049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539321854	chr4:22061126-22061127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144858989	chr4:22061170-22061171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17526294	chr4:22061205-22061206	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs375619209	chr4:22061257-22061258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148578208	chr4:22061275-22061276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116290574	chr4:22061280-22061281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181519065	chr4:22061285-22061286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573627473	chr4:22061297-22061298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577943243	chr4:22061303-22061304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10002092	chr4:22061377-22061378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564647501	chr4:22061436-22061437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576347973	chr4:22061449-22061450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22059800-22066400	Weak transcription	Pancreas	Pancrea
2	chr4:22060800-22062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:22062200-22063200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:22063200-22066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:22066400-22066600	ZNF genes & repeats	Pancreas	Pancrea
6	chr4:22066400-22073200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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