Variant report

Variant	nsv979375
Chromosome Location	chr2:133239259-133246208
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	chr2:133239529..133242980-chr2:133243590..133246592,3	K562	blood:
2	chr2:133239529..133242980-chr2:133243590..133246592,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD1-3	chr2:133246127-133246661	NONHSAT074536

Extended variants
information (count: 226 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:226 , 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	rs558061869	chr2:133239260-133239261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573195829	chr2:133239292-133239293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541402027	chr2:133239297-133239298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569322953	chr2:133239309-133239310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559700846	chr2:133239315-133239316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530087602	chr2:133239372-133239373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542300379	chr2:133239385-133239386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563667635	chr2:133239410-133239411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532622141	chr2:133239411-133239412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116151336	chr2:133239474-133239475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537999693	chr2:133239475-133239476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570778617	chr2:133239545-133239546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528772493	chr2:133239550-133239551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546229631	chr2:133239561-133239562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568042100	chr2:133239583-133239584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138434029	chr2:133239614-133239615	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535143595	chr2:133239643-133239644	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144268431	chr2:133239649-133239650	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146568772	chr2:133239722-133239723	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139700286	chr2:133239740-133239741	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554935542	chr2:133239754-133239755	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557999957	chr2:133239757-133239758	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573128317	chr2:133239762-133239763	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192689412	chr2:133239776-133239777	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149760406	chr2:133239780-133239781	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs71413503	chr2:133239788-133239789	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574761605	chr2:133239899-133239900	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375171684	chr2:133240007-133240008	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568431888	chr2:133240085-133240086	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72847399	chr2:133240087-133240088	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563777425	chr2:133240111-133240112	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575351682	chr2:133240114-133240115	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545950952	chr2:133240133-133240134	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145625767	chr2:133240186-133240187	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183592236	chr2:133240379-133240380	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528705009	chr2:133240385-133240386	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73957911	chr2:133240396-133240397	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115771238	chr2:133240407-133240408	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114027373	chr2:133240549-133240550	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550326534	chr2:133240551-133240552	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146994012	chr2:133240584-133240585	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539548499	chr2:133240632-133240633	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189304482	chr2:133240660-133240661	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566662735	chr2:133240728-133240729	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16832076	chr2:133240823-133240824	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147611337	chr2:133240827-133240828	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192867872	chr2:133240828-133240829	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376337759	chr2:133240881-133240882	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529235845	chr2:133240928-133240929	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535810298	chr2:133240932-133240933	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133233600-133239600	Weak transcription	A549	lung
2	chr2:133233600-133261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:133235000-133239600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:133235000-133239600	Weak transcription	Gastric	stomach
5	chr2:133235200-133246200	Weak transcription	Pancreas	Pancrea
6	chr2:133236600-133239400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:133237200-133241200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:133238600-133240000	Enhancers	Fetal Heart	heart
9	chr2:133239400-133239800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:133239600-133239800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:133239600-133240000	ZNF genes & repeats	A549	lung
12	chr2:133239600-133240200	Enhancers	Gastric	stomach
13	chr2:133240000-133241200	Flanking Active TSS	Fetal Heart	heart
14	chr2:133240000-133241200	Enhancers	Fetal Intestine Small	intestine
15	chr2:133241200-133242000	Enhancers	Fetal Heart	heart
16	chr2:133244600-133245000	ZNF genes & repeats	A549	lung
17	chr2:133245000-133256200	Weak transcription	A549	lung
18	chr2:133246200-133246600	Enhancers	Pancreas	Pancrea

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