Variant report

Variant	nsv963178
Chromosome Location	chr2:144842240-144850840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144848969..144851398-chr2:144852531..144855002,2	K562	blood:
2	chr2:144841519..144844337-chr2:144854788..144856843,2	K562	blood:
3	chr2:144839342..144841610-chr2:144842729..144844354,2	K562	blood:

Extended variants
information (count: 277 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377100507	chr2:144842265-144842266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376403074	chr2:144842387-144842388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537330650	chr2:144842446-144842447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546675794	chr2:144842524-144842525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571298116	chr2:144842627-144842628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558504291	chr2:144842701-144842702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539210956	chr2:144842724-144842725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550792148	chr2:144842776-144842777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569181947	chr2:144842782-144842783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528882261	chr2:144842811-144842812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554505024	chr2:144842859-144842860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148101157	chr2:144842863-144842864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370775443	chr2:144842895-144842896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559001295	chr2:144842966-144842967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184676815	chr2:144842984-144842985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74355556	chr2:144843005-144843006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577302598	chr2:144843052-144843053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545201979	chr2:144843101-144843102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563494030	chr2:144843141-144843142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62167045	chr2:144843159-144843160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575575558	chr2:144843223-144843224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72854147	chr2:144843238-144843239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140949887	chr2:144843252-144843253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146308043	chr2:144843291-144843292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541198450	chr2:144843310-144843311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559495365	chr2:144843332-144843333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574544579	chr2:144843337-144843338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532131514	chr2:144843349-144843350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6751500	chr2:144843404-144843405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541888751	chr2:144843479-144843480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376430734	chr2:144843492-144843493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536504307	chr2:144843568-144843569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548470092	chr2:144843580-144843581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375199718	chr2:144843668-144843669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543593675	chr2:144843694-144843695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139387309	chr2:144843717-144843718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558710822	chr2:144843777-144843778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577238541	chr2:144843831-144843832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538356836	chr2:144843921-144843922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563292204	chr2:144843933-144843934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557152864	chr2:144843960-144843961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575512254	chr2:144843984-144843985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114108229	chr2:144844028-144844029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531140819	chr2:144844039-144844040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186695040	chr2:144844052-144844053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368704412	chr2:144844090-144844091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540199700	chr2:144844102-144844103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564745741	chr2:144844105-144844106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118077181	chr2:144844121-144844122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191110889	chr2:144844131-144844132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144832200-144843200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:144836000-144842400	Weak transcription	Psoas Muscle	Psoas
3	chr2:144837400-144844400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:144838000-144843600	Weak transcription	Fetal Kidney	kidney
5	chr2:144838000-144855000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:144838600-144843400	Enhancers	NHLF	lung
7	chr2:144838600-144846200	Enhancers	NHDF-Ad	bronchial
8	chr2:144838800-144842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:144839000-144843200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:144839200-144842800	Weak transcription	Fetal Stomach	stomach
11	chr2:144839400-144843000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:144839800-144845400	Enhancers	HSMM	muscle
13	chr2:144839800-144855200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:144840200-144842600	Enhancers	HMEC	breast
15	chr2:144840200-144843200	Enhancers	HSMMtube	muscle
16	chr2:144840200-144844600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:144840400-144842400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:144840400-144842600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:144840400-144843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:144840400-144843200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:144840600-144842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:144840600-144842600	Enhancers	A549	lung
23	chr2:144840600-144843000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:144840600-144843000	Enhancers	NH-A	brain
25	chr2:144840600-144843200	Enhancers	NHEK	skin
26	chr2:144840600-144855000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:144841400-144842600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:144841400-144843000	Weak transcription	Spleen	Spleen
29	chr2:144841400-144849000	Weak transcription	Fetal Lung	lung
30	chr2:144841600-144842400	Enhancers	Hela-S3	cervix
31	chr2:144841800-144842400	Weak transcription	Ovary	ovary
32	chr2:144841800-144843600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:144842000-144845400	Enhancers	Osteobl	bone
34	chr2:144842200-144842400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:144842400-144843000	Enhancers	Psoas Muscle	Psoas
36	chr2:144842400-144844400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:144842600-144843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:144842600-144844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:144842600-144844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:144842600-144844400	Weak transcription	HMEC	breast
41	chr2:144843000-144844200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:144843000-144844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:144843000-144844400	Weak transcription	NH-A	brain
44	chr2:144843000-144857200	Weak transcription	Psoas Muscle	Psoas
45	chr2:144843200-144844200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:144843200-144844200	Weak transcription	NHEK	skin
47	chr2:144843200-144844400	Weak transcription	HSMMtube	muscle
48	chr2:144843200-144857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:144843400-144843800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:144843400-144844400	Weak transcription	NHLF	lung

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