Variant report

Variant	nsv523902
Chromosome Location	chr12:83417475-83423340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83422630..83425371-chr12:83427227..83429667,2	K562	blood:
2	chr12:83415930..83418702-chr12:83439696..83442546,2	K562	blood:
3	chr12:83423270..83425882-chr12:83433860..83436720,2	K562	blood:

Extended variants
information (count: 239 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs892540	chr12:83417475-83417476	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533599941	chr12:83417493-83417494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545495045	chr12:83417501-83417502	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560613055	chr12:83417518-83417519	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4387423	chr12:83417596-83417597	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565403540	chr12:83417602-83417603	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549315400	chr12:83417610-83417611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4387424	chr12:83417618-83417619	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529357164	chr12:83417630-83417631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12312967	chr12:83417655-83417656	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186330064	chr12:83417663-83417664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192058579	chr12:83417669-83417670	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568698325	chr12:83417672-83417673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539278441	chr12:83417779-83417780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142349004	chr12:83417793-83417794	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557428991	chr12:83417808-83417809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566272168	chr12:83417809-83417810	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368931315	chr12:83417848-83417849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138269422	chr12:83417858-83417859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2020370	chr12:83417894-83417895	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35312451	chr12:83417931-83417932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540122157	chr12:83417937-83417938	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183072124	chr12:83417945-83417946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115746543	chr12:83417960-83417961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578213311	chr12:83417986-83417987	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187374609	chr12:83417988-83417989	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191128171	chr12:83418037-83418038	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2020369	chr12:83418038-83418039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149621895	chr12:83418039-83418040	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371672346	chr12:83418068-83418069	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372037063	chr12:83418155-83418156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112155080	chr12:83418185-83418186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570470959	chr12:83418208-83418209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148787342	chr12:83418213-83418214	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183266704	chr12:83418283-83418284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118186668	chr12:83418287-83418288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551121164	chr12:83418296-83418297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373746193	chr12:83418300-83418301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575427169	chr12:83418317-83418318	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188003748	chr12:83418318-83418319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192239347	chr12:83418335-83418336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115075708	chr12:83418432-83418433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549508251	chr12:83418458-83418459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555204819	chr12:83418487-83418488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185075436	chr12:83418489-83418490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568188232	chr12:83418502-83418503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537487816	chr12:83418544-83418545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537799426	chr12:83418575-83418576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188014172	chr12:83418593-83418594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535184775	chr12:83418610-83418611	Weak transcription Strong 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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
3	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:83410600-83421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:83411000-83421000	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:83411000-83435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:83411200-83418400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:83411200-83422800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:83411400-83423200	Weak transcription	Stomach Mucosa	stomach
10	chr12:83412200-83421200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:83412600-83424400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:83412800-83422800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:83413600-83421200	Weak transcription	Fetal Lung	lung
14	chr12:83415200-83417600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:83415200-83424600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:83416400-83421000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:83417200-83417600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:83417200-83417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:83417200-83417600	Enhancers	Fetal Muscle Leg	muscle
20	chr12:83417200-83417600	Strong transcription	Fetal Stomach	stomach
21	chr12:83417200-83418400	Enhancers	Fetal Heart	heart
22	chr12:83417400-83417600	Weak transcription	Pancreas	Pancrea
23	chr12:83417600-83418600	Weak transcription	Fetal Stomach	stomach
24	chr12:83417600-83425000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:83417600-83430600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:83417600-83435800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:83418400-83424400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:83418600-83419000	Strong transcription	Fetal Stomach	stomach
29	chr12:83419000-83468000	Weak transcription	Fetal Stomach	stomach
30	chr12:83421000-83421600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:83421000-83421600	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:83421000-83421600	Enhancers	Brain Hippocampus Middle	brain
33	chr12:83421200-83421600	Enhancers	Brain Substantia Nigra	brain
34	chr12:83421200-83421600	Enhancers	Fetal Lung	lung
35	chr12:83421200-83421800	Enhancers	Brain Angular Gyrus	brain
36	chr12:83421600-83422600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:83421600-83422800	Weak transcription	Brain Substantia Nigra	brain
38	chr12:83421600-83423800	Weak transcription	Fetal Lung	lung
39	chr12:83421600-83424200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:83422600-83423600	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:83422800-83423000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:83422800-83423000	Enhancers	Brain Substantia Nigra	brain
43	chr12:83422800-83423600	Enhancers	Brain Anterior Caudate	brain
44	chr12:83423000-83423400	Weak transcription	Brain Substantia Nigra	brain

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