Variant report

Variant	esv3509709
Chromosome Location	chr12:119046419-119051617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11069004	chr12:119046447-119046448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371733698	chr12:119046472-119046473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539476825	chr12:119046511-119046512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143594963	chr12:119046538-119046539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573218938	chr12:119046570-119046571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577332722	chr12:119046588-119046589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535628113	chr12:119046595-119046596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555686626	chr12:119046681-119046682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545835247	chr12:119046749-119046750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565197952	chr12:119046772-119046773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575260726	chr12:119046780-119046781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76026095	chr12:119046801-119046802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530756191	chr12:119046816-119046817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564250999	chr12:119046857-119046858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11069005	chr12:119046859-119046860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560774993	chr12:119046860-119046861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540262549	chr12:119046875-119046876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560453976	chr12:119046885-119046886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144563073	chr12:119046889-119046890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529225486	chr12:119046985-119046986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151017360	chr12:119046999-119047000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189152446	chr12:119047002-119047003	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140894342	chr12:119047015-119047016	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114408679	chr12:119047034-119047035	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60987420	chr12:119047035-119047036	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79356186	chr12:119047078-119047079	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73413407	chr12:119047159-119047160	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200893084	chr12:119047176-119047177	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74906626	chr12:119047178-119047179	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370152348	chr12:119047186-119047187	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566780524	chr12:119047209-119047210	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114081778	chr12:119047288-119047289	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556067331	chr12:119047323-119047324	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150131181	chr12:119047325-119047326	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538459895	chr12:119047351-119047352	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138675704	chr12:119047360-119047361	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73209312	chr12:119047378-119047379	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539322477	chr12:119047410-119047411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540206113	chr12:119047413-119047414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546302271	chr12:119047458-119047459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2049128	chr12:119047482-119047483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs573940809	chr12:119047516-119047517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542554903	chr12:119047557-119047558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376354546	chr12:119047589-119047590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74976864	chr12:119047612-119047613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531389510	chr12:119047664-119047665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184297517	chr12:119047756-119047757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61131582	chr12:119047777-119047778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141634344	chr12:119047871-119047872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373320955	chr12:119047882-119047883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Autism	22495311	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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119042200-119047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:119042800-119048600	Weak transcription	Pancreas	Pancrea
3	chr12:119044800-119049200	Weak transcription	Fetal Brain Male	brain
4	chr12:119045600-119048000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:119046400-119046600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:119046600-119046800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:119046600-119047400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:119046800-119048000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:119047000-119047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119047000-119047400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:119047200-119049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119047400-119047800	Enhancers	Fetal Brain Female	brain
13	chr12:119047400-119048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:119047400-119050200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:119047600-119050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:119047600-119050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:119048000-119049000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:119048000-119049200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:119048000-119049400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:119048000-119049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:119048000-119049800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:119048000-119049800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:119048000-119050000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:119048200-119048400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:119048200-119048400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:119048200-119049400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:119048200-119050200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:119048400-119049200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:119048400-119050000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:119048400-119050200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:119048600-119050000	Enhancers	Aorta	Aorta
32	chr12:119048600-119050000	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:119048600-119050200	Enhancers	Pancreas	Pancrea
34	chr12:119048800-119049200	Enhancers	Brain Germinal Matrix	brain
35	chr12:119048800-119049400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:119048800-119049800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:119049000-119049200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:119049000-119050200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:119049000-119056400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:119049200-119049400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:119049200-119049400	Enhancers	Fetal Brain Male	brain
42	chr12:119049200-119050000	Enhancers	Rectal Smooth Muscle	rectum
43	chr12:119049400-119059800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:119049600-119050600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:119049800-119055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:119050200-119050600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:119050200-119050800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:119050600-119051800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:119050600-119052200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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