Variant report

Variant	nsv972979
Chromosome Location	chr12:38852946-38860849
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	chr12:34241238..34243550-chr12:38853316..38855678,2	MCF-7	breast:
2	chr12:38845594..38847956-chr12:38851662..38853438,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571630741	chr12:38857008-38857009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189253403	chr12:38857015-38857016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181441143	chr12:38857016-38857017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543811323	chr12:38857023-38857024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376119535	chr12:38857024-38857025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184943795	chr12:38857046-38857047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536749969	chr12:38857050-38857051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556425603	chr12:38857055-38857056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189321288	chr12:38857073-38857074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140445127	chr12:38857122-38857123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576371723	chr12:38857127-38857128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73094802	chr12:38857174-38857175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180944354	chr12:38857183-38857184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558855185	chr12:38857252-38857253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79392962	chr12:38857316-38857317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114206490	chr12:38857318-38857319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186185035	chr12:38857345-38857346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190755995	chr12:38857353-38857354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561317643	chr12:38857367-38857368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118060270	chr12:38857387-38857388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529109302	chr12:38857389-38857390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75615568	chr12:38857423-38857424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550467553	chr12:38857433-38857434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370482493	chr12:38857453-38857454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113525442	chr12:38857499-38857500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551772227	chr12:38857520-38857521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141025503	chr12:38857565-38857566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185288757	chr12:38857582-38857583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182768508	chr12:38858812-38858813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567854978	chr12:38858833-38858834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556880294	chr12:38858851-38858852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187844783	chr12:38858860-38858861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368249869	chr12:38858869-38858870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545486495	chr12:38858888-38858889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578221079	chr12:38858901-38858902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77278790	chr12:38858913-38858914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77428961	chr12:38858934-38858935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541485116	chr12:38858944-38858945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561585845	chr12:38858960-38858961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73265261	chr12:38858967-38858968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147540945	chr12:38858983-38858984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554184351	chr12:38858984-38858985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572472474	chr12:38858990-38858991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77818671	chr12:38859000-38859001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192416505	chr12:38859002-38859003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140163949	chr12:38859013-38859014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566199557	chr12:38859030-38859031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534984509	chr12:38859034-38859035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548302974	chr12:38859074-38859075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183806815	chr12:38859085-38859086	Enhancers	n/a	n/a	Overlapped CNVs	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
Breast cancer	21509527	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
Breast cancer	21364760	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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38857000-38857600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:38858800-38859400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:38859400-38863200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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