Variant report

Variant	nsv983314
Chromosome Location	chr12:42511511-42513653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190417354	chr12:42511533-42511534	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202184748	chr12:42511575-42511576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182720860	chr12:42511586-42511587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186624047	chr12:42511587-42511588	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574252765	chr12:42511608-42511609	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369541479	chr12:42511616-42511617	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191522014	chr12:42511622-42511623	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578041176	chr12:42511727-42511728	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372568843	chr12:42511815-42511816	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375961224	chr12:42511848-42511849	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140355512	chr12:42511967-42511968	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547413347	chr12:42511970-42511971	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150375330	chr12:42511973-42511974	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576281001	chr12:42511994-42511995	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566814567	chr12:42512006-42512007	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183712347	chr12:42512034-42512035	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543278705	chr12:42512038-42512039	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77021728	chr12:42512040-42512041	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529006612	chr12:42512041-42512042	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527679020	chr12:42512104-42512105	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115641636	chr12:42512124-42512125	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559064000	chr12:42512132-42512133	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549038108	chr12:42512147-42512148	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533031283	chr12:42512173-42512174	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369003894	chr12:42512178-42512179	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189199154	chr12:42512211-42512212	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551118541	chr12:42512274-42512275	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567435500	chr12:42512278-42512279	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192862198	chr12:42512281-42512282	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34152211	chr12:42512304-42512305	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138109161	chr12:42512308-42512309	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535272087	chr12:42512310-42512311	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553585877	chr12:42512331-42512332	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556694924	chr12:42512368-42512369	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34842994	chr12:42512392-42512393	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185477567	chr12:42512393-42512394	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557092289	chr12:42512446-42512447	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149539055	chr12:42512468-42512469	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539310519	chr12:42512512-42512513	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554179400	chr12:42512529-42512530	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543315353	chr12:42512563-42512564	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572024490	chr12:42512620-42512621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542669676	chr12:42512642-42512643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144199929	chr12:42512643-42512644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573591121	chr12:42512698-42512699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188510374	chr12:42512715-42512716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559477665	chr12:42512739-42512740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199767097	chr12:42512786-42512787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201566551	chr12:42512817-42512818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76740071	chr12:42512830-42512831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	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:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:42476000-42524400	Weak transcription	Gastric	stomach
5	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
6	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
7	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
10	chr12:42485200-42511600	Weak transcription	NHDF-Ad	bronchial
11	chr12:42485800-42512200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:42486000-42513000	Weak transcription	Aorta	Aorta
13	chr12:42488400-42512000	Weak transcription	Osteobl	bone
14	chr12:42488600-42518600	Weak transcription	Fetal Brain Male	brain
15	chr12:42488800-42511800	Weak transcription	HepG2	liver
16	chr12:42492200-42511600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:42492200-42512400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:42492200-42518600	Weak transcription	K562	blood
19	chr12:42492400-42511600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:42492400-42511600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:42492400-42512200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:42492400-42512200	Weak transcription	HUVEC	blood vessel
23	chr12:42492600-42511800	Weak transcription	Primary T cells from cord blood	blood
24	chr12:42493000-42511600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:42493000-42511600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
27	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:42493200-42518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:42497200-42518800	Weak transcription	Psoas Muscle	Psoas
31	chr12:42498800-42513000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:42499000-42516800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:42499200-42512200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:42499400-42518800	Weak transcription	Fetal Kidney	kidney
35	chr12:42501000-42518800	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:42501200-42512200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:42501400-42511800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:42504800-42514600	Weak transcription	Spleen	Spleen
39	chr12:42505600-42516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:42505800-42511600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:42505800-42511600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:42505800-42511600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:42505800-42511600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:42505800-42511600	Weak transcription	Fetal Intestine Large	intestine
45	chr12:42505800-42511600	Weak transcription	Left Ventricle	heart
46	chr12:42505800-42511600	Weak transcription	Ovary	ovary
47	chr12:42505800-42511600	Weak transcription	GM12878-XiMat	blood
48	chr12:42505800-42512200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:42505800-42515200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:42505800-42518400	Weak transcription	Fetal Intestine Small	intestine

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