Variant report

Variant	esv3398327
Chromosome Location	chr2:189029333-189031265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-2	chr2:189030481-189030635	ENSG00000231689

Extended variants
information (count: 95 )
Associated
traits (count: 51 )

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	rs371578856	chr2:189029347-189029348	Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1439904	chr2:189029351-189029352	Active TSS Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549364308	chr2:189029358-189029359	Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1439903	chr2:189029385-189029386	Active TSS Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1439902	chr2:189029420-189029421	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550330182	chr2:189029450-189029451	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571746885	chr2:189029491-189029492	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539256179	chr2:189029509-189029510	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71434630	chr2:189029528-189029529	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572706968	chr2:189029544-189029545	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144623780	chr2:189029550-189029551	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555234303	chr2:189029563-189029564	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575666605	chr2:189029569-189029570	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542993282	chr2:189029579-189029580	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188961297	chr2:189029582-189029583	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369878081	chr2:189029619-189029620	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201000558	chr2:189029634-189029635	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193089669	chr2:189029651-189029652	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62179560	chr2:189029653-189029654	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559238427	chr2:189029667-189029668	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529899565	chr2:189029668-189029669	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542007839	chr2:189029670-189029671	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11890363	chr2:189029681-189029682	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572356123	chr2:189029835-189029836	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184375624	chr2:189029886-189029887	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546428551	chr2:189029932-189029933	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550169280	chr2:189029953-189029954	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189079815	chr2:189029960-189029961	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77205275	chr2:189029977-189029978	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532459139	chr2:189029988-189029989	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547972467	chr2:189030016-189030017	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566182528	chr2:189030023-189030024	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536837345	chr2:189030074-189030075	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554872648	chr2:189030081-189030082	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564460078	chr2:189030084-189030085	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191677297	chr2:189030087-189030088	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531754854	chr2:189030091-189030092	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543593423	chr2:189030097-189030098	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576536480	chr2:189030158-189030159	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371148364	chr2:189030241-189030242	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184224393	chr2:189030259-189030260	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561973486	chr2:189030270-189030271	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553020551	chr2:189030308-189030309	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574578021	chr2:189030345-189030346	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145523051	chr2:189030346-189030347	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563595491	chr2:189030364-189030365	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370775884	chr2:189030413-189030414	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138039623	chr2:189030418-189030419	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565231404	chr2:189030432-189030433	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189383324	chr2:189030455-189030456	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189025800-189030800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189026000-189029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:189028600-189031200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:189029000-189030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:189029400-189032400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:189030400-189030600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:189030400-189031000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:189030600-189039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:189030800-189032000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:189031200-189032000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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