Variant report

Variant	esv3390902
Chromosome Location	chr12:124339849-124342597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543661716	chr12:124339852-124339853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548118639	chr12:124339894-124339895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561835729	chr12:124339984-124339985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529396282	chr12:124340044-124340045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191982378	chr12:124340091-124340092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116440956	chr12:124340130-124340131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139549075	chr12:124340167-124340168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372084604	chr12:124340180-124340181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74344502	chr12:124340182-124340183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79654795	chr12:124340191-124340192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76241212	chr12:124340194-124340195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397935481	chr12:124340196-124340197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151169270	chr12:124340197-124340198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61707714	chr12:124340199-124340200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55721522	chr12:124340204-124340205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570658849	chr12:124340205-124340206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377096544	chr12:124340210-124340211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546932206	chr12:124340215-124340216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55786633	chr12:124340223-124340224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142479194	chr12:124340224-124340225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568139349	chr12:124340241-124340242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10846562	chr12:124340326-124340327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74937676	chr12:124340381-124340382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572039158	chr12:124340559-124340560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200320631	chr12:124340576-124340577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539063456	chr12:124340586-124340587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147609344	chr12:124340604-124340605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576702510	chr12:124340630-124340631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543994268	chr12:124340683-124340684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552313127	chr12:124340710-124340711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201386023	chr12:124340875-124340876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145562821	chr12:124340896-124340897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573783391	chr12:124340902-124340903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541095698	chr12:124340903-124340904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112189360	chr12:124340923-124340924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550518546	chr12:124340933-124340934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112298237	chr12:124340944-124340945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185077712	chr12:124340945-124340946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551494783	chr12:124341009-124341010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564397925	chr12:124341035-124341036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140815306	chr12:124341167-124341168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149723725	chr12:124341170-124341171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116852802	chr12:124341253-124341254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372567413	chr12:124341267-124341268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113906939	chr12:124341306-124341307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28633812	chr12:124341344-124341345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35129567	chr12:124341492-124341493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569241703	chr12:124341526-124341527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367900561	chr12:124341554-124341555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554908826	chr12:124341568-124341569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124326000-124341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124331400-124352800	Weak transcription	Fetal Brain Female	brain
3	chr12:124334200-124344200	Weak transcription	Brain Germinal Matrix	brain
4	chr12:124338600-124345400	Weak transcription	Fetal Brain Male	brain
5	chr12:124339000-124340000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:124339600-124341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:124340000-124341600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:124341600-124341800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:124341600-124341800	Enhancers	Esophagus	oesophagus
10	chr12:124341600-124342400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:124341800-124343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:124342400-124346600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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