Variant report

Variant	nsv976559
Chromosome Location	chr12:4206772-4216198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4215784..4218050-chr12:4385145..4387428,2	K562	blood:
2	chr12:4211212..4213696-chr12:4362368..4364993,2	K562	blood:

Variant related genes	Relation type
ENSG00000256164	chromatin interactions
ENSG00000118971	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530717599	chr12:4206798-4206799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571049120	chr12:4206800-4206801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56244123	chr12:4206813-4206814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs55825747	chr12:4206821-4206822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7315487	chr12:4206830-4206831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546571649	chr12:4206831-4206832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146730665	chr12:4206913-4206914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7314725	chr12:4206922-4206923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549601062	chr12:4207014-4207015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371526740	chr12:4207044-4207045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569443590	chr12:4207048-4207049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150377621	chr12:4207049-4207050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558521854	chr12:4207080-4207081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59549730	chr12:4207088-4207089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533986013	chr12:4207152-4207153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377575265	chr12:4207170-4207171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556873695	chr12:4207172-4207173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554129251	chr12:4207173-4207174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576698354	chr12:4207232-4207233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543063218	chr12:4207234-4207235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371000065	chr12:4207251-4207252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182942720	chr12:4207262-4207263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149534724	chr12:4207294-4207295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188499928	chr12:4207306-4207307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192231980	chr12:4207307-4207308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146436855	chr12:4207332-4207333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533245814	chr12:4207356-4207357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539855264	chr12:4207365-4207366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560047728	chr12:4207376-4207377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184072987	chr12:4207403-4207404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139010475	chr12:4207430-4207431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11838249	chr12:4207433-4207434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11831812	chr12:4207453-4207454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551998996	chr12:4207461-4207462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370397386	chr12:4207495-4207496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571889288	chr12:4207504-4207505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187845926	chr12:4207537-4207538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2072497	chr12:4207538-4207539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567624232	chr12:4207556-4207557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554289702	chr12:4207643-4207644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574425879	chr12:4207665-4207666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143129832	chr12:4207694-4207695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556275023	chr12:4207696-4207697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576106687	chr12:4207810-4207811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367628051	chr12:4207821-4207822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557488139	chr12:4207837-4207838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371471107	chr12:4207838-4207839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577862348	chr12:4207858-4207859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117048300	chr12:4207881-4207882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371923503	chr12:4207886-4207887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4201400-4208000	Weak transcription	Pancreas	Pancrea
2	chr12:4207000-4207400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:4208000-4208200	Enhancers	Pancreas	Pancrea
4	chr12:4208200-4211200	Weak transcription	Pancreas	Pancrea
5	chr12:4210800-4211800	Enhancers	Fetal Stomach	stomach
6	chr12:4211800-4215600	Weak transcription	Fetal Stomach	stomach
7	chr12:4212200-4212600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:4214000-4216400	Enhancers	Fetal Heart	heart
9	chr12:4215400-4217400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:4215600-4216000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:4215600-4216200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:4215600-4216200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:4215600-4216200	Enhancers	Fetal Stomach	stomach
14	chr12:4215600-4216400	Enhancers	Fetal Thymus	thymus
15	chr12:4215600-4216600	Enhancers	GM12878-XiMat	blood
16	chr12:4215600-4217000	Enhancers	Primary T cells from cord blood	blood
17	chr12:4215600-4217000	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:4215600-4217200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:4215800-4216000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:4215800-4216200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:4215800-4216200	Bivalent Enhancer	Placenta	Placenta
22	chr12:4215800-4216600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:4215800-4217000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:4215800-4217000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:4215800-4217000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:4215800-4217200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:4216000-4217000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:4216000-4217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:4216000-4224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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