Variant report

Variant	esv3346572
Chromosome Location	chr12:119513198-119513417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200461661	chr12:119513208-119513209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201175479	chr12:119513211-119513212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200166800	chr12:119513234-119513235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140591035	chr12:119513246-119513247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549589612	chr12:119513248-119513249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148913974	chr12:119513254-119513255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147569990	chr12:119513257-119513258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200690609	chr12:119513258-119513259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61937983	chr12:119513281-119513282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201240708	chr12:119513302-119513303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61937984	chr12:119513323-119513324	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540023195	chr12:119513341-119513342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200249572	chr12:119513373-119513374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62635306	chr12:119513378-119513379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572997010	chr12:119513379-119513380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199587055	chr12:119513386-119513387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111164511	chr12:119513392-119513393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201657756	chr12:119513405-119513406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145893264	chr12:119513407-119513408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150466463	chr12:119513413-119513414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	16397240	CNVD
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119506600-119513400	Weak transcription	Fetal Brain Male	brain
2	chr12:119507600-119513200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119510000-119519800	Weak transcription	Fetal Brain Female	brain
4	chr12:119510600-119513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119510800-119513200	Weak transcription	Pancreas	Pancrea
6	chr12:119513200-119513800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119513200-119513800	ZNF genes & repeats	Pancreas	Pancrea
8	chr12:119513200-119514000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr12:119513200-119514000	ZNF genes & repeats	Fetal Kidney	kidney
10	chr12:119513400-119513800	ZNF genes & repeats	Fetal Brain Male	brain

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