Variant report

Variant	nsv899019
Chromosome Location	chr12:39955802-40004906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:
2	chr12:39998727..40000314-chr12:40002624..40004346,2	MCF-7	breast:
3	chr12:39998727..40000314-chr12:40002624..40004346,2	MCF-7	breast:
4	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:
5	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:
6	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:

Extended variants
information (count: 1855 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4284427	chr12:39955802-39955803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542548742	chr12:39955816-39955817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537418080	chr12:39955887-39955888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139689836	chr12:39955888-39955889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188045901	chr12:39955891-39955892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572822474	chr12:39955931-39955932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540199862	chr12:39955934-39955935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369664152	chr12:39955971-39955972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532476686	chr12:39955988-39955989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373519039	chr12:39956068-39956069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192268098	chr12:39956083-39956084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562927996	chr12:39956108-39956109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199592043	chr12:39956176-39956177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543254484	chr12:39956181-39956182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184275249	chr12:39956185-39956186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149653218	chr12:39956246-39956247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377459148	chr12:39956260-39956261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546352050	chr12:39956319-39956320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534516013	chr12:39956322-39956323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546603594	chr12:39956337-39956338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571250289	chr12:39956341-39956342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117699276	chr12:39956343-39956344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78580234	chr12:39956389-39956390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78830538	chr12:39956409-39956410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536009042	chr12:39956495-39956496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189594458	chr12:39956528-39956529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77657836	chr12:39956534-39956535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538120972	chr12:39956544-39956545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558521653	chr12:39956589-39956590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79556340	chr12:39956626-39956627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369067824	chr12:39956662-39956663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74566119	chr12:39956716-39956717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527601373	chr12:39956717-39956718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142160790	chr12:39956727-39956728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562956693	chr12:39956786-39956787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530160279	chr12:39956798-39956799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61933063	chr12:39956815-39956816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545535734	chr12:39956839-39956840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58313070	chr12:39956843-39956844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58305681	chr12:39956845-39956846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184400119	chr12:39956856-39956857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560704813	chr12:39956914-39956915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188886856	chr12:39956921-39956922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552952307	chr12:39956943-39956944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114511535	chr12:39956948-39956949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181974222	chr12:39956978-39956979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550326502	chr12:39956982-39956983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568899160	chr12:39957060-39957061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186244919	chr12:39957147-39957148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554320979	chr12:39957171-39957172	Weak transcription ZNF genes & repeats	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
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
Osteosarcoma	21215367	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:39952600-39963000	Weak transcription	Spleen	Spleen
3	chr12:39953000-39962800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:39953000-39969200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:39953200-39956800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:39953600-39963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:39953600-39963600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:39953800-39963000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:39953800-39963400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:39953800-39978600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:39955000-39962800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:39955000-39962800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:39955200-39962600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:39955400-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:39955400-39962800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:39955400-39963000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:39955400-39964200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:39955600-39962600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:39957000-39957200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr12:39957200-39962800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:39960400-39962800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:39961600-39962600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:39961800-39962800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:39962600-39963400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:39962600-39963800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr12:39962600-39964400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:39962600-39964400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:39962600-39974200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:39962800-39963000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr12:39962800-39963200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr12:39962800-39963400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:39962800-39963600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:39962800-39963600	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr12:39962800-39966600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:39962800-39967800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:39963000-39963200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:39963000-39963200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:39963000-39963400	ZNF genes & repeats	Spleen	Spleen
39	chr12:39963000-39963600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:39963000-39963600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:39963200-39963400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:39963200-39963400	Weak transcription	GM12878-XiMat	blood
43	chr12:39963200-39968400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:39963200-39975600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:39963400-39963800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:39963400-39964400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr12:39963400-39964400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr12:39963400-39964400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:39963400-39967400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:39963400-39991600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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