Variant report

Variant	nsv899544
Chromosome Location	chr12:118191949-118206789
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	chr12:118202975..118204512-chr12:118212438..118214007,2	MCF-7	breast:
2	chr12:118202024..118203599-chr12:118206808..118209023,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WSB2-5	chr12:118206013-118206869	l_737_NR_024246

Extended variants
information (count: 469 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569665494	chr12:118195211-118195212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184172029	chr12:118195221-118195222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578159140	chr12:118195237-118195238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552403326	chr12:118195288-118195289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565939616	chr12:118195326-118195327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534913360	chr12:118195377-118195378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554596336	chr12:118195437-118195438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141354587	chr12:118195452-118195453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567636777	chr12:118195458-118195459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145130382	chr12:118195516-118195517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556594941	chr12:118195528-118195529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576133172	chr12:118195575-118195576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138854906	chr12:118195644-118195645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558719706	chr12:118195661-118195662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187992815	chr12:118195662-118195663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7295490	chr12:118195682-118195683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564592335	chr12:118195687-118195688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141487219	chr12:118195688-118195689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529655640	chr12:118195696-118195697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543071907	chr12:118195732-118195733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563325172	chr12:118195752-118195753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532254438	chr12:118195755-118195756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552341760	chr12:118195771-118195772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79384280	chr12:118195787-118195788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116692539	chr12:118195805-118195806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548430959	chr12:118195826-118195827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568287755	chr12:118195869-118195870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536603942	chr12:118195954-118195955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533704080	chr12:118195974-118195975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10850897	chr12:118196075-118196076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs61179306	chr12:118196097-118196098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569758695	chr12:118196100-118196101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374731398	chr12:118196151-118196152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573520385	chr12:118196153-118196154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538741567	chr12:118196225-118196226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558651319	chr12:118196248-118196249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572288210	chr12:118196314-118196315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534919041	chr12:118196347-118196348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555215658	chr12:118196356-118196357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs515398	chr12:118196382-118196383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190489928	chr12:118196389-118196390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7310910	chr12:118196414-118196415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116849722	chr12:118196470-118196471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545899268	chr12:118196486-118196487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12310819	chr12:118196541-118196542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556266057	chr12:118196582-118196583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531845506	chr12:118196598-118196599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529339180	chr12:118196606-118196607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528263366	chr12:118196624-118196625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549668086	chr12:118196651-118196652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118195200-118201400	Weak transcription	Brain Angular Gyrus	brain
2	chr12:118197200-118205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:118197800-118207800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:118198400-118198600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:118198600-118199400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:118199600-118200600	Enhancers	HUVEC	blood vessel
7	chr12:118202800-118209600	Weak transcription	Pancreas	Pancrea
8	chr12:118205600-118206800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:118206000-118207600	Enhancers	HUVEC	blood vessel
10	chr12:118206200-118206800	Enhancers	Spleen	Spleen

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