Variant report

Variant	esv3501996
Chromosome Location	chr12:41847724-41863526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 609 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368778691	chr12:41847724-41847725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573965601	chr12:41847737-41847738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75998367	chr12:41847828-41847829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66922134	chr12:41847843-41847844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377391370	chr12:41847851-41847852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17129370	chr12:41847915-41847916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140809122	chr12:41848006-41848007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545528338	chr12:41848052-41848053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191049275	chr12:41848118-41848119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2608706	chr12:41848170-41848171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543617000	chr12:41848178-41848179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1870285	chr12:41848186-41848187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369930848	chr12:41848226-41848227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544419367	chr12:41848229-41848230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139732984	chr12:41848235-41848236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183423621	chr12:41848288-41848289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188829637	chr12:41848304-41848305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74440626	chr12:41848324-41848325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117533847	chr12:41848335-41848336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551465481	chr12:41848342-41848343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1870286	chr12:41848356-41848357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537673511	chr12:41848368-41848369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191130129	chr12:41848418-41848419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12298553	chr12:41848420-41848421	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535024043	chr12:41848421-41848422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34931927	chr12:41848428-41848429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183387702	chr12:41848541-41848542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545043085	chr12:41848558-41848559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144620901	chr12:41848627-41848628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2255035	chr12:41848640-41848641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11180926	chr12:41848647-41848648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150152496	chr12:41848664-41848665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138638121	chr12:41848666-41848667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561906161	chr12:41848669-41848670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529098153	chr12:41848690-41848691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377122117	chr12:41848702-41848703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79384914	chr12:41848717-41848718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559345276	chr12:41848718-41848719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532957705	chr12:41848731-41848732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2608707	chr12:41848750-41848751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563271195	chr12:41848761-41848762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530553627	chr12:41848772-41848773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548657021	chr12:41848788-41848789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188075781	chr12:41848808-41848809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534840045	chr12:41848822-41848823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12322329	chr12:41848829-41848830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs571822301	chr12:41848838-41848839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1379769	chr12:41848856-41848857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531659878	chr12:41848859-41848860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1379770	chr12:41848877-41848878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41838000-41852400	Weak transcription	Fetal Brain Male	brain
3	chr12:41838200-41852400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41838400-41851600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:41846800-41848600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:41847600-41848000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:41848000-41848200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:41848200-41850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:41850000-41850200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:41850200-41851400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:41851600-41851800	Enhancers	Brain Germinal Matrix	brain
13	chr12:41851800-41852200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:41852200-41853400	Enhancers	Brain Germinal Matrix	brain
15	chr12:41852200-41854000	Enhancers	Fetal Brain Female	brain
16	chr12:41852400-41853400	Enhancers	Colon Smooth Muscle	Colon
17	chr12:41852400-41853800	Enhancers	Fetal Lung	lung
18	chr12:41852400-41854000	Enhancers	Fetal Brain Male	brain
19	chr12:41852600-41852800	Enhancers	Stomach Smooth Muscle	stomach
20	chr12:41852600-41854800	Enhancers	Brain Angular Gyrus	brain
21	chr12:41852600-41855000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:41852800-41853800	Enhancers	Brain Substantia Nigra	brain
23	chr12:41852800-41855000	Enhancers	Brain Anterior Caudate	brain
24	chr12:41852800-41857800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:41853200-41854800	Enhancers	Brain Hippocampus Middle	brain
26	chr12:41853200-41855000	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:41853400-41854000	Enhancers	Fetal Kidney	kidney
28	chr12:41853400-41857600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:41853400-41860200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:41853800-41854200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:41853800-41859200	Weak transcription	Fetal Lung	lung
32	chr12:41854200-41855200	Enhancers	Brain Substantia Nigra	brain
33	chr12:41854400-41855400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:41854800-41855200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:41855000-41859400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:41855000-41860600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:41855000-41861000	Weak transcription	Brain Anterior Caudate	brain
38	chr12:41855200-41855400	Enhancers	Brain Hippocampus Middle	brain
39	chr12:41855200-41859400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:41855400-41858800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:41855400-41860600	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:41856000-41856400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:41856400-41859000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:41857600-41858000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:41857600-41860200	Enhancers	Colon Smooth Muscle	Colon
46	chr12:41857800-41858000	Enhancers	Stomach Smooth Muscle	stomach
47	chr12:41858000-41858800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:41858000-41859400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:41858400-41858800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:41858400-41863000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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