Variant report

Variant	nsv519635
Chromosome Location	chr12:39985206-39998144
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	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:
2	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:

Extended variants
information (count: 399 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:399 , 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	rs12582802	chr12:39985206-39985207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546579249	chr12:39985249-39985250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545553364	chr12:39985264-39985265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149496290	chr12:39985266-39985267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145875151	chr12:39985372-39985373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528050765	chr12:39985536-39985537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551066438	chr12:39985589-39985590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546658332	chr12:39985590-39985591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183434905	chr12:39985696-39985697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557379568	chr12:39985755-39985756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186389694	chr12:39985789-39985790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535337733	chr12:39985865-39985866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551136407	chr12:39985874-39985875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573361346	chr12:39985912-39985913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76805826	chr12:39985926-39985927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138700230	chr12:39985993-39985994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577541325	chr12:39986018-39986019	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544709192	chr12:39986043-39986044	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563031000	chr12:39986084-39986085	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142705891	chr12:39986092-39986093	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542408222	chr12:39986101-39986102	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560701608	chr12:39986104-39986105	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76696959	chr12:39986116-39986117	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540483690	chr12:39986149-39986150	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533593454	chr12:39986163-39986164	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545601245	chr12:39986190-39986191	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532515158	chr12:39986253-39986254	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551027733	chr12:39986259-39986260	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569362940	chr12:39986303-39986304	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530172084	chr12:39986314-39986315	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148804589	chr12:39986378-39986379	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575588690	chr12:39986389-39986390	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191249646	chr12:39986396-39986397	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141566389	chr12:39986397-39986398	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551535541	chr12:39986421-39986422	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150888122	chr12:39986448-39986449	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566666773	chr12:39986464-39986465	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538240651	chr12:39986466-39986467	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556587370	chr12:39986468-39986469	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139356407	chr12:39986510-39986511	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148480088	chr12:39986583-39986584	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533931888	chr12:39986594-39986595	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542272952	chr12:39986625-39986626	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202029655	chr12:39986632-39986633	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554257513	chr12:39986678-39986679	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572961916	chr12:39986682-39986683	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540081649	chr12:39986748-39986749	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145269605	chr12:39986764-39986765	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565170574	chr12:39986907-39986908	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73096542	chr12:39986928-39986929	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:39963400-39991600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:39963800-40010200	Weak transcription	Left Ventricle	heart
4	chr12:39966600-39993200	Weak transcription	GM12878-XiMat	blood
5	chr12:39966600-39993400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:39966800-40009400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:39967800-39993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:39973000-39996000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:39977000-39986400	Weak transcription	Psoas Muscle	Psoas
10	chr12:39980000-39993200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:39980200-39987200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:39980200-39993000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:39980200-39993000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:39980200-39993200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:39980200-40006000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:39980200-40009200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:39980800-39987400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:39980800-39987800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:39980800-39988000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:39980800-39988400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:39981600-39999400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:39982800-39991200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:39983000-39986000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:39986000-39986200	Enhancers	A549	lung
25	chr12:39986000-39986400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:39986000-39986800	Enhancers	HepG2	liver
27	chr12:39986000-39987000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:39986400-39986600	Enhancers	Psoas Muscle	Psoas
29	chr12:39987000-39988200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:39987200-39988000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:39987400-39991400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:39987800-40002000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:39988000-39992800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:39988000-39999600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:39988200-39989000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:39988400-39991800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:39989000-39989400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:39989400-39989800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:39989800-39991200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:39991200-39991400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:39991200-39991600	Enhancers	Adipose Nuclei	Adipose
42	chr12:39991400-39991600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:39991400-39992800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:39991600-39992200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:39991600-39992400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:39991600-39993200	Weak transcription	Adipose Nuclei	Adipose
47	chr12:39991800-39997600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:39992200-40000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:39992400-39993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:39992800-39995000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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