Variant report

Variant	nsv983443
Chromosome Location	chr12:83020399-83048001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:82920677..82921535-chr12:83019931..83020685,2	MCF-7	breast:
2	chr12:83045168..83046859-chr12:83077129..83078918,2	MCF-7	breast:
3	chr12:82752165..82753058-chr12:83021424..83022313,3	MCF-7	breast:
4	chr12:82777410..82778076-chr12:83021381..83021922,3	MCF-7	breast:
5	chr12:83042670..83045643-chr12:83080310..83082308,2	MCF-7	breast:
6	chr12:83038079..83039947-chr12:83043283..83045373,2	MCF-7	breast:
7	chr12:82753521..82754075-chr12:83021392..83022207,3	MCF-7	breast:
8	chr12:83038079..83039947-chr12:83043283..83045373,2	MCF-7	breast:
9	chr12:83041018..83042538-chr12:83044192..83045758,2	MCF-7	breast:
10	chr12:82920672..82921613-chr12:83021112..83021885,4	MCF-7	breast:
11	chr12:83030541..83031126-chr2:73772566..73773410,2	MCF-7	breast:
12	chr12:82910516..82911793-chr12:83021377..83022217,4	MCF-7	breast:
13	chr12:83027721..83031479-chr12:83077251..83081760,5	MCF-7	breast:
14	chr12:83042183..83044298-chr12:83079732..83081351,2	MCF-7	breast:
15	chr12:83041018..83042538-chr12:83044192..83045758,2	MCF-7	breast:
16	chr12:82920686..82921567-chr12:83021333..83022314,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133773	chromatin interactions
ENSG00000127720	chromatin interactions
ENSG00000179104	chromatin interactions

Extended variants
information (count: 825 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143528530	chr12:83020426-83020427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74106584	chr12:83020433-83020434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553389638	chr12:83020434-83020435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568600207	chr12:83020448-83020449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189621032	chr12:83020470-83020471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375062114	chr12:83020471-83020472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576158979	chr12:83020483-83020484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564032877	chr12:83020530-83020531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543573681	chr12:83020533-83020534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558442547	chr12:83020540-83020541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115883010	chr12:83020543-83020544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540653621	chr12:83020551-83020552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558920062	chr12:83020570-83020571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574516233	chr12:83020616-83020617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575893632	chr12:83020663-83020664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367767166	chr12:83020678-83020679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563349507	chr12:83020686-83020687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73352442	chr12:83020726-83020727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371514923	chr12:83020744-83020745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552770856	chr12:83020747-83020748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79888762	chr12:83020819-83020820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376751029	chr12:83020855-83020856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528775694	chr12:83020880-83020881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547065035	chr12:83020882-83020883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182649846	chr12:83020891-83020892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543317840	chr12:83020906-83020907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10862495	chr12:83020957-83020958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73155463	chr12:83021017-83021018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142661501	chr12:83021069-83021070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547845533	chr12:83021092-83021093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569298495	chr12:83021123-83021124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536881818	chr12:83021133-83021134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558307921	chr12:83021152-83021153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117588546	chr12:83021160-83021161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11829458	chr12:83021190-83021191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144923697	chr12:83021202-83021203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562328413	chr12:83021205-83021206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75310900	chr12:83021250-83021251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369462890	chr12:83021283-83021284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559635494	chr12:83021310-83021311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376926251	chr12:83021317-83021318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545444006	chr12:83021363-83021364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563257636	chr12:83021381-83021382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370304687	chr12:83021421-83021422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141928242	chr12:83021500-83021501	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546450193	chr12:83021514-83021515	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564669000	chr12:83021558-83021559	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533554648	chr12:83021572-83021573	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528652673	chr12:83021609-83021610	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547313404	chr12:83021613-83021614	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83018400-83020400	Enhancers	Brain Substantia Nigra	brain
2	chr12:83018600-83020800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:83019400-83021400	Enhancers	Brain Hippocampus Middle	brain
4	chr12:83019400-83021600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr12:83019800-83021600	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:83020000-83021000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:83020400-83020800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:83020800-83021200	Enhancers	Brain Substantia Nigra	brain
9	chr12:83021000-83021400	Enhancers	Brain Angular Gyrus	brain
10	chr12:83021400-83021800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:83028000-83028800	Enhancers	Stomach Mucosa	stomach
12	chr12:83028200-83028400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:83028200-83028600	Enhancers	Gastric	stomach
14	chr12:83028200-83029400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:83028400-83028600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:83028400-83028600	Enhancers	A549	lung
17	chr12:83028400-83028600	Flanking Active TSS	HepG2	liver
18	chr12:83028400-83028800	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:83028400-83029400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:83028600-83028800	Active TSS	HepG2	liver
21	chr12:83028600-83029000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:83028600-83029400	Active TSS	A549	lung
23	chr12:83028800-83029200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr12:83028800-83029200	Flanking Active TSS	Stomach Mucosa	stomach
25	chr12:83028800-83029200	Flanking Active TSS	HepG2	liver
26	chr12:83028800-83029400	Active TSS	Liver	Liver
27	chr12:83029000-83029200	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr12:83029200-83029400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:83029200-83029400	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:83029200-83029400	Active TSS	HepG2	liver
31	chr12:83029400-83038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:83038000-83040000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:83038600-83039200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:83038600-83040200	Enhancers	HMEC	breast
35	chr12:83038800-83039600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:83038800-83040000	Enhancers	NHEK	skin
37	chr12:83039200-83040000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:83039400-83039800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:83039800-83044200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:83040000-83043600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:83040000-83044200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:83040000-83044200	Weak transcription	NHEK	skin
43	chr12:83040200-83043600	Weak transcription	HMEC	breast
44	chr12:83041400-83041600	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:83041400-83042400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:83041600-83041800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr12:83041600-83042400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr12:83041600-83042400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:83041600-83042400	Active TSS	Brain Anterior Caudate	brain
50	chr12:83041600-83042600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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