Variant report

Variant	esv3459020
Chromosome Location	chr2:206127621-206130132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10204712	chr2:206127621-206127622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142013213	chr2:206127667-206127668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531160018	chr2:206127718-206127719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34750500	chr2:206127804-206127805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112843317	chr2:206127870-206127871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143645840	chr2:206127915-206127916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187426840	chr2:206127938-206127939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549279929	chr2:206127990-206127991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567762093	chr2:206128018-206128019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35550134	chr2:206128040-206128041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534764558	chr2:206128116-206128117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115146252	chr2:206128162-206128163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6753078	chr2:206128178-206128179	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532632375	chr2:206128225-206128226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11901919	chr2:206128232-206128233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114650334	chr2:206128270-206128271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139485219	chr2:206128303-206128304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564246331	chr2:206128315-206128316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548950905	chr2:206128355-206128356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77015672	chr2:206128407-206128408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191798738	chr2:206128461-206128462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572896484	chr2:206128472-206128473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34794425	chr2:206128548-206128549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530015694	chr2:206128573-206128574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539984493	chr2:206128607-206128608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558219891	chr2:206128682-206128683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112477054	chr2:206128720-206128721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543781650	chr2:206128733-206128734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563658493	chr2:206128758-206128759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531073783	chr2:206128835-206128836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145048672	chr2:206128839-206128840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543211595	chr2:206128857-206128858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537870559	chr2:206128912-206128913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370849349	chr2:206128936-206128937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528678809	chr2:206129023-206129024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547152560	chr2:206129070-206129071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372055763	chr2:206129080-206129081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144291582	chr2:206129205-206129206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182931728	chr2:206129223-206129224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548867000	chr2:206129250-206129251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116672762	chr2:206129259-206129260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569142197	chr2:206129303-206129304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536110461	chr2:206129304-206129305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554844782	chr2:206129460-206129461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552434136	chr2:206129585-206129586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147385995	chr2:206129594-206129595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186536394	chr2:206129600-206129601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534450402	chr2:206129603-206129604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35271060	chr2:206129622-206129623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558256723	chr2:206129642-206129643	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206108400-206145200	Weak transcription	HSMM	muscle
3	chr2:206113400-206139800	Weak transcription	Pancreas	Pancrea
4	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
5	chr2:206127400-206128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:206127800-206128200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:206128000-206128200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:206128000-206128200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:206128200-206130600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:206128200-206131000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:206128400-206130000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:206130000-206133400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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