Variant report

Variant	nsv818108
Chromosome Location	chr2:212289728-212292699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212286106..212287792-chr2:212289650..212291629,2	MCF-7	breast:
2	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
3	chr2:212265066..212266731-chr2:212291564..212294489,2	MCF-7	breast:
4	chr2:212286937..212289642-chr2:212291657..212294876,4	MCF-7	breast:
5	chr2:212288710..212290756-chr2:212380740..212383126,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16846133	chr2:212289728-212289729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536381165	chr2:212289753-212289754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34038562	chr2:212289770-212289771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547046045	chr2:212289785-212289786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114259947	chr2:212289800-212289801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548578713	chr2:212289842-212289843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530505464	chr2:212289858-212289859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542252851	chr2:212289907-212289908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146024859	chr2:212289973-212289974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560540785	chr2:212290018-212290019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3791710	chr2:212290048-212290049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201483038	chr2:212290078-212290079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72250993	chr2:212290080-212290081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183635302	chr2:212290136-212290137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556404546	chr2:212290267-212290268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147274224	chr2:212290308-212290309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188225491	chr2:212290372-212290373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140674726	chr2:212290391-212290392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574354868	chr2:212290434-212290435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539819762	chr2:212290506-212290507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79054032	chr2:212290531-212290532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4673617	chr2:212290579-212290580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75483782	chr2:212290588-212290589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79196677	chr2:212290589-212290590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143046106	chr2:212290625-212290626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191442902	chr2:212290638-212290639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182433133	chr2:212290690-212290691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531272169	chr2:212290691-212290692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369266508	chr2:212290708-212290709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551279601	chr2:212290717-212290718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117956135	chr2:212290733-212290734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117364323	chr2:212290736-212290737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77920606	chr2:212290765-212290766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549577777	chr2:212290779-212290780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549445675	chr2:212290795-212290796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532421248	chr2:212290830-212290831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139584499	chr2:212290832-212290833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144717594	chr2:212290845-212290846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150661991	chr2:212290850-212290851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59567054	chr2:212290851-212290852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62181585	chr2:212290852-212290853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111692227	chr2:212290853-212290854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62181586	chr2:212290854-212290855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200438503	chr2:212290860-212290861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373165277	chr2:212290920-212290921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551996294	chr2:212290964-212290965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568223137	chr2:212290973-212290974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568698418	chr2:212290975-212290976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75248984	chr2:212290987-212290988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186713676	chr2:212291003-212291004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212279400-212294600	Weak transcription	Fetal Heart	heart
2	chr2:212281600-212301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:212287000-212295400	Weak transcription	HUVEC	blood vessel
4	chr2:212288200-212292800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212288200-212302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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