Variant report

Variant	nsv557712
Chromosome Location	chr12:21017036-21036533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 910 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4149126	chr12:21017036-21017037	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570505313	chr12:21017106-21017107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539096028	chr12:21017111-21017112	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556113967	chr12:21017146-21017147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540178414	chr12:21017162-21017163	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150345383	chr12:21017187-21017188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556012458	chr12:21017197-21017198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562980799	chr12:21017229-21017230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556856943	chr12:21017252-21017253	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374792766	chr12:21017269-21017270	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113943630	chr12:21017272-21017273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74443243	chr12:21017285-21017286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4149127	chr12:21017288-21017289	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541618806	chr12:21017337-21017338	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548900915	chr12:21017357-21017358	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141082989	chr12:21017411-21017412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533459745	chr12:21017419-21017420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370276056	chr12:21017490-21017491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189722458	chr12:21017495-21017496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182071289	chr12:21017496-21017497	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535638809	chr12:21017507-21017508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531509827	chr12:21017508-21017509	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555913184	chr12:21017515-21017516	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567933380	chr12:21017570-21017571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78395236	chr12:21017612-21017613	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547554611	chr12:21017614-21017615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570492319	chr12:21017670-21017671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144883144	chr12:21017672-21017673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77854652	chr12:21017679-21017680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115673184	chr12:21017680-21017681	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138178122	chr12:21017681-21017682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556126887	chr12:21017696-21017697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567139990	chr12:21017747-21017748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2417941	chr12:21017796-21017797	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs534949077	chr12:21017850-21017851	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369880194	chr12:21017864-21017865	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77041891	chr12:21017870-21017871	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2417940	chr12:21017875-21017876	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
39	rs142754510	chr12:21017888-21017889	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543856552	chr12:21017893-21017894	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563545654	chr12:21017954-21017955	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80133659	chr12:21017975-21017976	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73069234	chr12:21018027-21018028	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538399092	chr12:21018033-21018034	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76880107	chr12:21018046-21018047	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146075261	chr12:21018061-21018062	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148319004	chr12:21018071-21018072	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568716723	chr12:21018078-21018079	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577175564	chr12:21018128-21018129	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1991849	chr12:21018131-21018132	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21006600-21018000	Weak transcription	A549	lung
2	chr12:21015400-21018400	Strong transcription	Liver	Liver
3	chr12:21017800-21019200	Enhancers	HUVEC	blood vessel
4	chr12:21018000-21018200	Strong transcription	A549	lung
5	chr12:21018200-21018800	Weak transcription	A549	lung
6	chr12:21018400-21020800	Weak transcription	Liver	Liver
7	chr12:21018800-21020600	Strong transcription	A549	lung
8	chr12:21019800-21020000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:21020000-21020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:21020000-21020600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:21020600-21021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:21020600-21027400	Weak transcription	A549	lung
13	chr12:21020800-21021200	Strong transcription	Liver	Liver
14	chr12:21020800-21021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:21021200-21024600	Weak transcription	Liver	Liver
16	chr12:21021600-21022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:21024600-21026200	Strong transcription	Liver	Liver
18	chr12:21026200-21027800	Weak transcription	Liver	Liver
19	chr12:21027400-21028400	Strong transcription	A549	lung
20	chr12:21027800-21029600	Strong transcription	Liver	Liver
21	chr12:21028400-21035800	Weak transcription	A549	lung
22	chr12:21029600-21032400	Weak transcription	Liver	Liver
23	chr12:21032400-21035400	Strong transcription	Liver	Liver
24	chr12:21034000-21034200	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:21034400-21035000	Enhancers	Stomach Mucosa	stomach
26	chr12:21034400-21035600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:21035000-21035400	Weak transcription	Stomach Mucosa	stomach
28	chr12:21035400-21036000	Enhancers	Stomach Mucosa	stomach
29	chr12:21035400-21039000	Weak transcription	Liver	Liver
30	chr12:21035600-21036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:21035600-21036600	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:21035600-21037800	Enhancers	Colon Smooth Muscle	Colon
33	chr12:21035800-21036600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr12:21035800-21037000	Enhancers	Adipose Nuclei	Adipose
35	chr12:21035800-21037600	Enhancers	HUVEC	blood vessel
36	chr12:21035800-21038200	Enhancers	A549	lung

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