Variant report

Variant	nsv1046478
Chromosome Location	chr12:83603552-83669089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83650313..83652424-chr12:83654399..83655919,2	K562	blood:
2	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:
3	chr12:83650313..83652424-chr12:83654399..83655919,2	K562	blood:
4	chr12:83621899..83623681-chr12:83628874..83631467,2	MCF-7	breast:
5	chr12:83594175..83596162-chr12:83607861..83610318,2	K562	blood:

Extended variants
information (count: 533 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534239023	chr12:83603576-83603577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549301866	chr12:83603583-83603584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111709476	chr12:83603599-83603600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567927693	chr12:83603603-83603604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115544016	chr12:83603625-83603626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566981558	chr12:83603632-83603633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551471069	chr12:83603665-83603666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534377988	chr12:83603669-83603670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112408560	chr12:83603673-83603674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147409257	chr12:83603685-83603686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181504549	chr12:83603743-83603744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187470551	chr12:83603819-83603820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572434332	chr12:83603831-83603832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538676012	chr12:83603846-83603847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543025294	chr12:83603941-83603942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7303631	chr12:83603952-83603953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11400715	chr12:83603958-83603959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397737346	chr12:83603968-83603969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573876760	chr12:83603981-83603982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371778945	chr12:83604009-83604010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544117939	chr12:83604058-83604059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190927789	chr12:83604096-83604097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532865256	chr12:83604101-83604102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2037260	chr12:83604108-83604109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61931863	chr12:83604120-83604121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4242871	chr12:83604140-83604141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2037259	chr12:83604166-83604167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2037258	chr12:83604192-83604193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs572713628	chr12:83604207-83604208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531995194	chr12:83604215-83604216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114109176	chr12:83604223-83604224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571843229	chr12:83604253-83604254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17010753	chr12:83604267-83604268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552419152	chr12:83604274-83604275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566154536	chr12:83604330-83604331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536692303	chr12:83604410-83604411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182390539	chr12:83604443-83604444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138192373	chr12:83604487-83604488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544446171	chr12:83604494-83604495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540010758	chr12:83604502-83604503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556102687	chr12:83604514-83604515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577451253	chr12:83604553-83604554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544783324	chr12:83604599-83604600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143761117	chr12:83604627-83604628	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527379354	chr12:83604659-83604660	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558431622	chr12:83604667-83604668	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6539711	chr12:83604688-83604689	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75074862	chr12:83604727-83604728	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531935085	chr12:83604743-83604744	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78848126	chr12:83604746-83604747	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83594600-83604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83596600-83604200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:83597000-83604200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:83603800-83605400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:83604200-83604400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:83604200-83604400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:83604200-83604600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:83604200-83604800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:83604200-83605400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:83604200-83605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:83604200-83605800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:83604200-83606000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:83604200-83606400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:83604200-83606400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:83604400-83604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:83604600-83604800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:83604800-83605000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:83604800-83605200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:83604800-83605200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:83604800-83607200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:83605000-83605200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:83605200-83605600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:83605200-83606400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:83605600-83606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:83605800-83606200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:83606200-83606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:83606200-83606600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:83612800-83613000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:83613000-83613200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:83613200-83613400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr12:83617400-83619200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:83617600-83618600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:83617800-83618200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:83622000-83622400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:83626600-83627000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:83627000-83628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:83628400-83628800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:83628400-83629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:83628600-83628800	Enhancers	Colon Smooth Muscle	Colon
40	chr12:83630400-83631000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:83637000-83638200	Enhancers	Fetal Lung	lung
42	chr12:83651200-83652200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:83659200-83660400	Enhancers	Colon Smooth Muscle	Colon

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