Variant report

Variant	esv275458
Chromosome Location	chr2:181816046-181819377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:181816772..181818990-chr2:181821114..181822961,2	K562	blood:
2	chr2:181808930..181811570-chr2:181816470..181818302,2	K562	blood:
3	chr2:181814712..181816539-chr2:181818090..181819594,2	K562	blood:
4	chr2:181814712..181816539-chr2:181818090..181819594,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79953575	chr2:181817015-181817016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145377602	chr2:181817020-181817021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189520954	chr2:181817047-181817048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542721683	chr2:181817085-181817086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149212486	chr2:181817119-181817120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143411169	chr2:181817122-181817123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542283220	chr2:181817170-181817171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544837446	chr2:181817209-181817210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564825656	chr2:181817231-181817232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181120387	chr2:181817265-181817266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575543303	chr2:181817266-181817267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549716153	chr2:181817309-181817310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570039456	chr2:181817327-181817328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529342851	chr2:181817330-181817331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4618005	chr2:181817351-181817352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566077695	chr2:181817365-181817366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535223612	chr2:181817399-181817400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146885337	chr2:181817401-181817402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571922640	chr2:181817433-181817434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202244778	chr2:181817456-181817457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115581112	chr2:181817468-181817469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537750510	chr2:181817486-181817487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556651060	chr2:181817517-181817518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573602407	chr2:181817530-181817531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140752544	chr2:181817555-181817556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553014452	chr2:181817562-181817563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35278228	chr2:181817622-181817623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4618006	chr2:181817657-181817658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564739455	chr2:181817662-181817663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557454457	chr2:181817706-181817707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4618007	chr2:181817712-181817713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs79193060	chr2:181817723-181817724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575643583	chr2:181817781-181817782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529237601	chr2:181817834-181817835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566175206	chr2:181817843-181817844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6709648	chr2:181817912-181817913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531920076	chr2:181817916-181817917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373147747	chr2:181817917-181817918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568881389	chr2:181817918-181817919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144610194	chr2:181817948-181817949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13400460	chr2:181817964-181817965	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181817000-181818000	Enhancers	GM12878-XiMat	blood

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