Variant report

Variant	nsv8989
Chromosome Location	chr12:73073318-73074926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542778924	chr12:73073329-73073330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370638436	chr12:73073347-73073348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35840420	chr12:73073365-73073366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560940094	chr12:73073408-73073409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539077138	chr12:73073463-73073464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528146936	chr12:73073526-73073527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546379066	chr12:73073528-73073529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552412548	chr12:73073637-73073638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35386429	chr12:73073639-73073640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372881090	chr12:73073645-73073646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564868967	chr12:73073693-73073694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532182174	chr12:73073732-73073733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191743344	chr12:73073746-73073747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184708729	chr12:73073760-73073761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114710536	chr12:73073790-73073791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549515774	chr12:73073819-73073820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372928222	chr12:73073831-73073832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577751724	chr12:73073866-73073867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543503394	chr12:73073876-73073877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1826205	chr12:73073878-73073879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534742226	chr12:73073944-73073945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535115254	chr12:73073956-73073957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1826206	chr12:73073965-73073966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1586688	chr12:73074001-73074002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374368168	chr12:73074011-73074012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7964348	chr12:73074013-73074014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575256400	chr12:73074054-73074055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367937286	chr12:73074075-73074076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192792	chr12:73074121-73074122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190244926	chr12:73074136-73074137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75932819	chr12:73074178-73074179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537631043	chr12:73074195-73074196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557546680	chr12:73074205-73074206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151242038	chr12:73074231-73074232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1807989	chr12:73074412-73074413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs561089102	chr12:73074418-73074419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386764182	chr12:73074432-73074433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2887020	chr12:73074443-73074444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565004459	chr12:73074558-73074559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532270593	chr12:73074585-73074586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181493273	chr12:73074666-73074667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185738162	chr12:73074706-73074707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190261029	chr12:73074769-73074770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180977431	chr12:73074774-73074775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549459553	chr12:73074787-73074788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572778430	chr12:73074886-73074887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567840387	chr12:73074903-73074904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534940910	chr12:73074910-73074911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541509944	chr12:73074924-73074925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:73071600-73075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:73072400-73073400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:73072800-73074400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:73072800-73074800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:73073000-73073600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:73073200-73073800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:73074600-73074800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:73074800-73075000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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