Variant report

Variant	nsv979331
Chromosome Location	chr2:53803621-53808637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53802111..53805957-chr2:53807457..53810844,3	K562	blood:
2	chr2:53802111..53805957-chr2:53807457..53810844,3	K562	blood:
3	chr2:53800207..53803097-chr2:53806024..53807990,2	K562	blood:
4	chr2:53804711..53806458-chr2:53809800..53812091,2	MCF-7	breast:
5	chr2:53807910..53809861-chr2:53812392..53815157,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR75-6	chr2:53808341-53808515	NONHSAT070689

Extended variants
information (count: 245 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116667404	chr2:53803655-53803656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542688510	chr2:53803663-53803664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562674525	chr2:53803672-53803673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530720507	chr2:53803677-53803678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544126254	chr2:53803725-53803726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528170646	chr2:53803740-53803741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186328183	chr2:53803798-53803799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191182462	chr2:53803802-53803803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547910274	chr2:53803840-53803841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141535959	chr2:53803847-53803848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528924982	chr2:53803862-53803863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10206863	chr2:53803863-53803864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568902189	chr2:53803870-53803871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79963583	chr2:53803879-53803880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118057459	chr2:53803886-53803887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571874487	chr2:53803895-53803896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534243348	chr2:53803897-53803898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554069438	chr2:53803902-53803903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573679723	chr2:53803927-53803928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115443925	chr2:53803941-53803942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556614955	chr2:53803972-53803973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568037753	chr2:53804000-53804001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576464273	chr2:53804006-53804007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2357486	chr2:53804021-53804022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551417501	chr2:53804023-53804024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557172544	chr2:53804061-53804062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375479986	chr2:53804071-53804072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577843047	chr2:53804100-53804101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17044927	chr2:53804123-53804124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142651849	chr2:53804125-53804126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180733599	chr2:53804141-53804142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77828694	chr2:53804161-53804162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562561971	chr2:53804165-53804166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185132985	chr2:53804187-53804188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527882981	chr2:53804198-53804199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376600198	chr2:53804229-53804230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569371483	chr2:53804250-53804251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10192011	chr2:53804261-53804262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567663719	chr2:53804291-53804292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143326703	chr2:53804336-53804337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148344947	chr2:53804344-53804345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141539159	chr2:53804401-53804402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538782288	chr2:53804432-53804433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559037639	chr2:53804453-53804454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112359809	chr2:53804462-53804463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540474447	chr2:53804554-53804555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190825490	chr2:53804610-53804611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555487560	chr2:53804640-53804641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534922035	chr2:53804643-53804644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553073909	chr2:53804670-53804671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53795000-53808800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53801800-53804400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:53802200-53804400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:53802400-53804200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:53802600-53804400	Enhancers	Brain Germinal Matrix	brain
6	chr2:53802800-53803800	Enhancers	HSMM	muscle
7	chr2:53802800-53804000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:53802800-53804200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:53802800-53804200	Enhancers	Fetal Stomach	stomach
10	chr2:53802800-53804200	Enhancers	Osteobl	bone
11	chr2:53803000-53803800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:53803000-53803800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:53803000-53803800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:53803000-53803800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:53803000-53803800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:53803000-53804000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:53803000-53804000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:53803000-53804000	Enhancers	Fetal Brain Female	brain
19	chr2:53803000-53804000	Enhancers	NHDF-Ad	bronchial
20	chr2:53803000-53804200	Enhancers	HSMMtube	muscle
21	chr2:53803000-53804200	Enhancers	NHLF	lung
22	chr2:53803200-53804000	Enhancers	Fetal Lung	lung
23	chr2:53803400-53803800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:53803400-53804000	Enhancers	NH-A	brain
25	chr2:53803400-53804600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:53804000-53804400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:53804400-53809600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:53808600-53809800	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links