Variant report

Variant	esv3445520
Chromosome Location	chr2:186311707-186313605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568031352	chr2:186311748-186311749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75107439	chr2:186311781-186311782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556906672	chr2:186311791-186311792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575678659	chr2:186311801-186311802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544468374	chr2:186311822-186311823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114204720	chr2:186311827-186311828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558286652	chr2:186311843-186311844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184828601	chr2:186311847-186311848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189392350	chr2:186311928-186311929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556201078	chr2:186311939-186311940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571827219	chr2:186311946-186311947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377303794	chr2:186311963-186311964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11675629	chr2:186311990-186311991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544775305	chr2:186312001-186312002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34853820	chr2:186312032-186312033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554246813	chr2:186312077-186312078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10931173	chr2:186312108-186312109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs145898358	chr2:186312110-186312111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530623908	chr2:186312119-186312120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551811015	chr2:186312145-186312146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186106063	chr2:186312182-186312183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190623744	chr2:186312186-186312187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150961485	chr2:186312238-186312239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11686861	chr2:186312255-186312256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535418228	chr2:186312264-186312265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545903989	chr2:186312291-186312292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550743260	chr2:186312308-186312309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11686896	chr2:186312326-186312327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs539628845	chr2:186312334-186312335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376844958	chr2:186312403-186312404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71011097	chr2:186312426-186312427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4666686	chr2:186312434-186312435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376246350	chr2:186312435-186312436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367969571	chr2:186312440-186312441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13022428	chr2:186312480-186312481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12996661	chr2:186312484-186312485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373392249	chr2:186312491-186312492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531831702	chr2:186312526-186312527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112663649	chr2:186312530-186312531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201307504	chr2:186312537-186312538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370215588	chr2:186312538-186312539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71011098	chr2:186312544-186312545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561141082	chr2:186312675-186312676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111560775	chr2:186312676-186312677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569967819	chr2:186312694-186312695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558247935	chr2:186312779-186312780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573395243	chr2:186312830-186312831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534159706	chr2:186312840-186312841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555830480	chr2:186312845-186312846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574263640	chr2:186312927-186312928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186298200-186315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:186298600-186315800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:186298800-186314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:186301800-186316600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:186302000-186320200	Weak transcription	HMEC	breast
6	chr2:186303000-186315600	Weak transcription	NHEK	skin
7	chr2:186303200-186318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:186309000-186314800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:186309400-186315000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:186312400-186315400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:186313600-186315800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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