Variant report

Variant	nsv3055
Chromosome Location	chr2:178800438-178819638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178819326..178822090-chr2:178825482..178828483,3	K562	blood:
2	chr2:178814531..178817473-chr2:178843941..178845448,2	K562	blood:
3	chr2:178817015..178819167-chr2:178824979..178826962,2	K562	blood:
4	chr2:178800826..178803458-chr2:178806721..178809195,2	K562	blood:
5	chr2:178800826..178803458-chr2:178806721..178809195,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC30A-1	chr2:178817838-178818008	ENSG00000236664.1

No data

Extended variants
information (count: 81 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547474990	chr2:178800438-178800439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527471101	chr2:178800472-178800473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547382063	chr2:178800491-178800492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13428032	chr2:178800522-178800523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189808487	chr2:178800542-178800543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550113612	chr2:178800571-178800572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569933329	chr2:178800573-178800574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535579791	chr2:178800593-178800594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146880593	chr2:178806298-178806299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149006921	chr2:178806357-178806358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115233513	chr2:178806361-178806362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374357162	chr2:178806405-178806406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534863817	chr2:178806443-178806444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142939882	chr2:178806458-178806459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79857680	chr2:178806507-178806508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533115493	chr2:178806616-178806617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549864220	chr2:178806632-178806633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569787260	chr2:178806641-178806642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13382373	chr2:178806721-178806722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78225004	chr2:178806765-178806766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182515528	chr2:178807637-178807638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548013199	chr2:178807640-178807641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561552132	chr2:178807644-178807645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75536157	chr2:178807676-178807677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139093929	chr2:178807677-178807678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570082283	chr2:178807696-178807697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566304205	chr2:178807725-178807726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187205846	chr2:178807728-178807729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370111071	chr2:178807749-178807750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542674376	chr2:178807756-178807757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552057086	chr2:178807757-178807758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571943092	chr2:178807763-178807764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539458928	chr2:178807769-178807770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552385926	chr2:178807806-178807807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116712868	chr2:178807852-178807853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569664072	chr2:178807872-178807873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535582717	chr2:178807891-178807892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2695107	chr2:178807901-178807902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554370206	chr2:178807933-178807934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10168170	chr2:178807987-178807988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141553995	chr2:178808036-178808037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34528505	chr2:178808085-178808086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35696051	chr2:178808111-178808112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35952531	chr2:178808151-178808152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12994400	chr2:178808159-178808160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563389659	chr2:178808160-178808161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552786226	chr2:178808174-178808175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2695739	chr2:178808194-178808195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1609094	chr2:178808208-178808209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541246606	chr2:178808209-178808210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178800200-178800600	Enhancers	Fetal Brain Male	brain
2	chr2:178806200-178806800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:178807600-178808200	Enhancers	Liver	Liver
4	chr2:178807800-178808000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:178808200-178808600	Weak transcription	Liver	Liver
6	chr2:178808600-178809000	Enhancers	Liver	Liver

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