Variant report

Variant	nsv584358
Chromosome Location	chr2:213155534-213191389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
2	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
3	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
4	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:

Extended variants
information (count: 1377 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10205716	chr2:213155534-213155535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576900212	chr2:213155599-213155600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147246985	chr2:213155626-213155627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201632208	chr2:213155639-213155640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555933169	chr2:213155755-213155756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191298931	chr2:213155784-213155785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74816679	chr2:213155801-213155802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554844440	chr2:213155836-213155837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75374250	chr2:213155914-213155915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182833009	chr2:213155919-213155920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185931769	chr2:213155947-213155948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532524759	chr2:213156052-213156053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148730471	chr2:213156061-213156062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9288451	chr2:213156090-213156091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs80154500	chr2:213156094-213156095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548576854	chr2:213156102-213156103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548563228	chr2:213156154-213156155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190785542	chr2:213156161-213156162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142268825	chr2:213156192-213156193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150914628	chr2:213156237-213156238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570622446	chr2:213156238-213156239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139399750	chr2:213156262-213156263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183272644	chr2:213156278-213156279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188932352	chr2:213156325-213156326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535100974	chr2:213156327-213156328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78282458	chr2:213156338-213156339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567262504	chr2:213156363-213156364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61173393	chr2:213156476-213156477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372208308	chr2:213156492-213156493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17346713	chr2:213156498-213156499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57358448	chr2:213156531-213156532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577380931	chr2:213156541-213156542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544825238	chr2:213156644-213156645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192707581	chr2:213156706-213156707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112317063	chr2:213156746-213156747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542278833	chr2:213156778-213156779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558649764	chr2:213156784-213156785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143220696	chr2:213156793-213156794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2371481	chr2:213156797-213156798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201329621	chr2:213156803-213156804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114086269	chr2:213156834-213156835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533154050	chr2:213156858-213156859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182678501	chr2:213156880-213156881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188190236	chr2:213156910-213156911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569426367	chr2:213156976-213156977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192733582	chr2:213157008-213157009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184418561	chr2:213157043-213157044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565664550	chr2:213157051-213157052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75257705	chr2:213157085-213157086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554452506	chr2:213157088-213157089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213150200-213161600	Weak transcription	Aorta	Aorta
2	chr2:213153200-213159400	Weak transcription	Pancreas	Pancrea
3	chr2:213159600-213159800	Enhancers	Brain Angular Gyrus	brain
4	chr2:213159600-213159800	Enhancers	Brain Substantia Nigra	brain
5	chr2:213159600-213159800	Enhancers	Pancreas	Pancrea
6	chr2:213159600-213160000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:213159800-213161400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:213160000-213164200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:213161400-213162200	Enhancers	Brain Angular Gyrus	brain
10	chr2:213161600-213161800	Enhancers	Aorta	Aorta
11	chr2:213164200-213164800	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:213164600-213165000	Enhancers	Brain Anterior Caudate	brain
13	chr2:213164800-213165200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:213168600-213168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:213171000-213172000	Enhancers	Adipose Nuclei	Adipose
17	chr2:213171000-213172400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:213175200-213175400	Enhancers	Fetal Heart	heart
19	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
20	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
22	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
23	chr2:213180800-213181400	Enhancers	Aorta	Aorta
24	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
25	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
27	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
28	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
29	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
30	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
31	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
32	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
33	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
34	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney

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