Variant report

Variant	esv3340146
Chromosome Location	chr2:206149496-206150853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201426604	chr2:206149596-206149597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11677344	chr2:206149607-206149608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13002238	chr2:206149623-206149624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530942406	chr2:206149680-206149681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5837964	chr2:206149717-206149718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199751161	chr2:206149731-206149732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397786341	chr2:206149732-206149733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200553503	chr2:206149733-206149734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543002897	chr2:206149804-206149805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532320070	chr2:206149816-206149817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377516755	chr2:206149898-206149899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35637123	chr2:206149980-206149981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561027487	chr2:206150021-206150022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73056488	chr2:206150033-206150034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374041647	chr2:206150038-206150039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72940370	chr2:206150056-206150057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138623361	chr2:206150088-206150089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1540369	chr2:206150152-206150153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs550278645	chr2:206150154-206150155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568573819	chr2:206150164-206150165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535851355	chr2:206150267-206150268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554599423	chr2:206150285-206150286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564884446	chr2:206150293-206150294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1207422	chr2:206150373-206150374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535360626	chr2:206150436-206150437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114529064	chr2:206150466-206150467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115195060	chr2:206150480-206150481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149325055	chr2:206150554-206150555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1207421	chr2:206150594-206150595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
30	rs1207420	chr2:206150675-206150676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368284308	chr2:206150686-206150687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561369099	chr2:206150711-206150712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7569859	chr2:206150747-206150748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182640333	chr2:206150822-206150823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
3	chr2:206138800-206162200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:206147400-206149600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:206148400-206149600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:206148400-206149600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:206149000-206156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:206149200-206150800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:206149400-206154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:206149400-206154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:206149400-206158200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:206149400-206160000	Weak transcription	Psoas Muscle	Psoas
13	chr2:206149600-206154600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:206149600-206158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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