Variant report

Variant	nsv516185
Chromosome Location	chr2:53842082-53850382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53838050..53841676-chr2:53842441..53845129,3	K562	blood:
2	chr2:53847289..53849518-chr2:53852556..53854797,2	K562	blood:
3	chr2:53837091..53839319-chr2:53840310..53842800,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR75-5	chr2:53843602-53845521	ucscGeneNc_uc002rxj_1

Extended variants
information (count: 275 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559606371	chr2:53843613-53843614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs570504546	chr2:53843695-53843696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548546527	chr2:53843722-53843723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs6705387	chr2:53843747-53843748	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181377035	chr2:53843784-53843785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533513771	chr2:53843787-53843788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs143570937	chr2:53843827-53843828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs186037157	chr2:53843870-53843871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs560689511	chr2:53843889-53843890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369397016	chr2:53843896-53843897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566892529	chr2:53843925-53843926	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs570494989	chr2:53843926-53843927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs539158400	chr2:53843932-53843933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535824055	chr2:53843941-53843942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553145952	chr2:53843993-53843994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs374992434	chr2:53843999-53844000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs370509985	chr2:53844017-53844018	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs566764211	chr2:53844042-53844043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs535731783	chr2:53844048-53844049	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs556052956	chr2:53844069-53844070	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs10207242	chr2:53844080-53844081	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200312185	chr2:53844091-53844092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs72897179	chr2:53844101-53844102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs113327276	chr2:53844143-53844144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs578009537	chr2:53844203-53844204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs558378835	chr2:53844205-53844206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs540779367	chr2:53844213-53844214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs559581082	chr2:53844241-53844242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs528331615	chr2:53844242-53844243	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs190606999	chr2:53844259-53844260	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs561989086	chr2:53844263-53844264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs530730684	chr2:53844269-53844270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs182897462	chr2:53844308-53844309	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs578105147	chr2:53844341-53844342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs570357630	chr2:53844376-53844377	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs149784220	chr2:53844384-53844385	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs546322755	chr2:53844395-53844396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566701144	chr2:53844396-53844397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539991277	chr2:53844451-53844452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs61655920	chr2:53844464-53844465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs141567182	chr2:53844475-53844476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs202237641	chr2:53844478-53844479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369732080	chr2:53844481-53844482	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs79614197	chr2:53844485-53844486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs535624213	chr2:53844511-53844512	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs377530207	chr2:53844539-53844540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs4671054	chr2:53844541-53844542	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs56121837	chr2:53844542-53844543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs558127140	chr2:53844546-53844547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541443224	chr2:53844559-53844560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53846200-53846600	Enhancers	Fetal Heart	heart
2	chr2:53846200-53847600	Enhancers	Fetal Brain Male	brain
3	chr2:53846400-53846800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53846400-53847400	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:53846600-53847000	Enhancers	Brain Anterior Caudate	brain
6	chr2:53846600-53847000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:53847200-53848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:53847800-53848000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:53848000-53856400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:53849200-53850000	Enhancers	Stomach Mucosa	stomach
11	chr2:53849200-53850200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:53849800-53850200	Enhancers	NHEK	skin

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