Variant report

Variant	esv3384075
Chromosome Location	chr12:119834969-119837117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537256930	chr12:119835000-119835001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550814630	chr12:119835039-119835040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191400409	chr12:119835045-119835046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539782224	chr12:119835056-119835057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553314596	chr12:119835058-119835059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573182667	chr12:119835060-119835061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374318677	chr12:119835068-119835069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555916148	chr12:119835072-119835073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575473619	chr12:119835075-119835076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141589550	chr12:119835096-119835097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146220932	chr12:119835148-119835149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575035225	chr12:119835188-119835189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577861080	chr12:119835226-119835227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540194311	chr12:119835227-119835228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560065446	chr12:119835312-119835313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528896619	chr12:119835313-119835314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113370389	chr12:119835458-119835459	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562246995	chr12:119835504-119835505	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540508667	chr12:119835512-119835513	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs56686166	chr12:119835539-119835540	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550750949	chr12:119835552-119835553	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112205604	chr12:119835575-119835576	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533653560	chr12:119835576-119835577	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531049929	chr12:119835579-119835580	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs9971832	chr12:119835610-119835611	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375109578	chr12:119835643-119835644	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200898327	chr12:119835650-119835651	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566826607	chr12:119835730-119835731	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535493614	chr12:119835732-119835733	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555853181	chr12:119835733-119835734	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569370947	chr12:119835810-119835811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543385435	chr12:119835811-119835812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183913317	chr12:119835832-119835833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190549568	chr12:119835906-119835907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557969606	chr12:119835948-119835949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181862651	chr12:119835965-119835966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562935076	chr12:119835966-119835967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550830216	chr12:119835978-119835979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12367014	chr12:119835989-119835990	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs371334258	chr12:119836021-119836022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573532799	chr12:119836028-119836029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542212414	chr12:119836034-119836035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12367044	chr12:119836064-119836065	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112395351	chr12:119836067-119836068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544729210	chr12:119836097-119836098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564309748	chr12:119836098-119836099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533378381	chr12:119836122-119836123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117991925	chr12:119836140-119836141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567058974	chr12:119836159-119836160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560468361	chr12:119836173-119836174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119829600-119835200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
3	chr12:119835200-119836400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr12:119835400-119835600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr12:119835400-119835600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr12:119835400-119835600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:119835400-119835600	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
8	chr12:119835400-119835600	Flanking Bivalent TSS/Enh	HSMM	muscle
9	chr12:119835400-119835600	ZNF genes & repeats	K562	blood
10	chr12:119835400-119835600	ZNF genes & repeats	NH-A	brain
11	chr12:119835400-119835600	Flanking Bivalent TSS/Enh	NHEK	skin
12	chr12:119835400-119835800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:119835400-119835800	Bivalent Enhancer	Primary T cells from cord blood	blood
14	chr12:119835400-119835800	Bivalent/Poised TSS	GM12878-XiMat	blood
15	chr12:119835400-119835800	Genic enhancers	HSMMtube	muscle
16	chr12:119835400-119835800	Active TSS	HUVEC	blood vessel
17	chr12:119835400-119835800	Active TSS	NHDF-Ad	bronchial
18	chr12:119835400-119835800	Active TSS	Osteobl	bone
19	chr12:119835600-119835800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:119835600-119835800	Flanking Active TSS	HSMM	muscle
21	chr12:119835600-119835800	Flanking Active TSS	NHEK	skin
22	chr12:119835800-119836000	Weak transcription	HSMMtube	muscle
23	chr12:119836000-119836200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:119836000-119836400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:119836000-119837600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:119836200-119836400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:119837000-119837800	Enhancers	Fetal Lung	lung

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