Variant report

Variant	esv2755083
Chromosome Location	chr4:22049670-22096199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:21790635..21791482-chr4:22083518..22084264,2	MCF-7	breast:
2	chr4:22045762..22048489-chr4:22082694..22085288,2	MCF-7	breast:

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: 927 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147029443	chr4:22059803-22059804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576209997	chr4:22059808-22059809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543721769	chr4:22059809-22059810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138407135	chr4:22059856-22059857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529113912	chr4:22059865-22059866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542340201	chr4:22059927-22059928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10031376	chr4:22059933-22059934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544389774	chr4:22059938-22059939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375663620	chr4:22059941-22059942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527799098	chr4:22059950-22059951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552559268	chr4:22059997-22059998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185067081	chr4:22060007-22060008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564496883	chr4:22060069-22060070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143893763	chr4:22060111-22060112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563465760	chr4:22060121-22060122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532230472	chr4:22060159-22060160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550482854	chr4:22060183-22060184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552033493	chr4:22060239-22060240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568536488	chr4:22060306-22060307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10031901	chr4:22060315-22060316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9291434	chr4:22060318-22060319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565396708	chr4:22060351-22060352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371336226	chr4:22060364-22060365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539148468	chr4:22060402-22060403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187920211	chr4:22060425-22060426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576023268	chr4:22060438-22060439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547734115	chr4:22060476-22060477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192136301	chr4:22060504-22060505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372142735	chr4:22060510-22060511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116603388	chr4:22060558-22060559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138916581	chr4:22060560-22060561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12108644	chr4:22060566-22060567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572547290	chr4:22060578-22060579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189518955	chr4:22060612-22060613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202097206	chr4:22060652-22060653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147859764	chr4:22060654-22060655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200776598	chr4:22060661-22060662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111445984	chr4:22060662-22060663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71193432	chr4:22060663-22060664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200134013	chr4:22060664-22060665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201118220	chr4:22060665-22060666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564304640	chr4:22060666-22060667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200691567	chr4:22060684-22060685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10012036	chr4:22060732-22060733	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550202281	chr4:22060738-22060739	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs562442531	chr4:22060764-22060765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs529550880	chr4:22060799-22060800	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs547537393	chr4:22060840-22060841	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13151262	chr4:22060889-22060890	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539111156	chr4:22060902-22060903	Enhancers Weak transcription	lncRNA	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:27 , 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
7	chr4:22073200-22073800	Enhancers	NHEK	skin
8	chr4:22073200-22074200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:22073200-22074400	Enhancers	HMEC	breast
10	chr4:22073400-22074200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:22073400-22074400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:22074400-22077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:22077800-22078400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:22078400-22078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:22078800-22079400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:22087200-22087600	Enhancers	HSMMtube	muscle
17	chr4:22091800-22093400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:22092400-22093000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:22092600-22093000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:22092600-22093000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:22092600-22093000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:22092600-22095000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:22093000-22094400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:22093000-22094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:22093200-22094200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:22093600-22093800	Enhancers	Osteobl	bone
27	chr4:22093600-22094400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links