Variant report

Variant	nsv976606
Chromosome Location	chr12:39856893-39860999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39851241..39854513-chr12:39858183..39861000,3	MCF-7	breast:
2	chr12:39835374..39838989-chr12:39856195..39860050,4	K562	blood:
3	chr12:39835363..39838062-chr12:39856075..39859606,4	MCF-7	breast:
4	chr12:39835374..39837423-chr12:39856668..39858369,2	K562	blood:

Variant related genes	Relation type
ENSG00000252974	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572751383	chr12:39856934-39856935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192087577	chr12:39856949-39856950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558268971	chr12:39857060-39857061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545215064	chr12:39857108-39857109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576614504	chr12:39857116-39857117	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs35926467	chr12:39857132-39857133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560526001	chr12:39857175-39857176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143169830	chr12:39857220-39857221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527787023	chr12:39857229-39857230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369086314	chr12:39857241-39857242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115970027	chr12:39857287-39857288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562565506	chr12:39857327-39857328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529967937	chr12:39857328-39857329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140252299	chr12:39857356-39857357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs59577878	chr12:39857357-39857358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71888837	chr12:39857358-39857359	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549382587	chr12:39857392-39857393	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567980768	chr12:39857421-39857422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541768840	chr12:39857455-39857456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560452806	chr12:39857456-39857457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527733768	chr12:39857496-39857497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529160111	chr12:39857548-39857549	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552695168	chr12:39857615-39857616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550315042	chr12:39857747-39857748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564598805	chr12:39857762-39857763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531864118	chr12:39857767-39857768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550314554	chr12:39857776-39857777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568568873	chr12:39857787-39857788	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183407753	chr12:39857823-39857824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547821024	chr12:39857845-39857846	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143142953	chr12:39857900-39857901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186824091	chr12:39857944-39857945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558211646	chr12:39857958-39857959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576504254	chr12:39858056-39858057	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190910962	chr12:39858057-39858058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556284276	chr12:39858096-39858097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183137085	chr12:39858119-39858120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542104815	chr12:39858126-39858127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574175812	chr12:39858168-39858169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs114473684	chr12:39858184-39858185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572449561	chr12:39858258-39858259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546190620	chr12:39858287-39858288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564486682	chr12:39858296-39858297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531797201	chr12:39858311-39858312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186700680	chr12:39858332-39858333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569631484	chr12:39858342-39858343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565535591	chr12:39858367-39858368	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529500756	chr12:39858417-39858418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548051563	chr12:39858444-39858445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566061970	chr12:39858461-39858462	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Cancer	20164919	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39854600-39858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:39857200-39860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:39858600-39858800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:39858800-39859200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:39858800-39859800	Enhancers	Fetal Brain Female	brain
6	chr12:39859000-39859200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:39859000-39859400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:39859200-39861000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:39859400-39859600	Enhancers	Fetal Brain Male	brain
10	chr12:39859600-39860800	Weak transcription	Fetal Brain Male	brain
11	chr12:39860600-39862400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:39860800-39861200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:39860800-39861200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:39860800-39861200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:39860800-39861200	Enhancers	Fetal Brain Male	brain
16	chr12:39860800-39861400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:39860800-39861400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:39860800-39861400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:39860800-39861800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:39860800-39862400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:39860800-39862600	Enhancers	Primary T helper cells fromperipheralblood	blood

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