Variant report

Variant	nsv829435
Chromosome Location	chr2:57784518-57799391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:57794327..57795954-chr2:57796915..57799788,2	K562	blood:
2	chr2:57794327..57795954-chr2:57796915..57799788,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-15	chr2:57793606-57793820	l_1837_chr2:57781955-57793820_testes
2	lnc-VRK2-15	chr2:57787062-57787228	l_1837_chr2:57781955-57793820_testes

Extended variants
information (count: 188 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368114079	chr2:57787065-57787066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs142358233	chr2:57787078-57787079	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564247110	chr2:57787096-57787097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371949393	chr2:57787126-57787127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs577836513	chr2:57787193-57787194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs184686153	chr2:57787205-57787206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563433793	chr2:57790435-57790436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187119483	chr2:57790450-57790451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532479263	chr2:57790501-57790502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373997998	chr2:57790508-57790509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551939074	chr2:57790540-57790541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13414675	chr2:57790591-57790592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78933659	chr2:57790616-57790617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74679294	chr2:57790617-57790618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538845435	chr2:57790644-57790645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144728231	chr2:57790651-57790652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191932232	chr2:57790695-57790696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534410793	chr2:57790751-57790752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554186065	chr2:57790805-57790806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140016751	chr2:57790852-57790853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542979919	chr2:57790862-57790863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142793663	chr2:57790874-57790875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576626009	chr2:57790885-57790886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184445887	chr2:57790926-57790927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565288170	chr2:57790939-57790940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371306635	chr2:57790967-57790968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189203905	chr2:57790985-57790986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541526614	chr2:57790990-57790991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546400796	chr2:57791003-57791004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561297780	chr2:57791009-57791010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370854662	chr2:57791040-57791041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547265157	chr2:57791072-57791073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192216112	chr2:57791077-57791078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569944368	chr2:57791093-57791094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs68008184	chr2:57791100-57791101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568157153	chr2:57791148-57791149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560960597	chr2:57791248-57791249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147410795	chr2:57791261-57791262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10197747	chr2:57791281-57791282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548836552	chr2:57791292-57791293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554222843	chr2:57791311-57791312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530595731	chr2:57793202-57793203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550720869	chr2:57793222-57793223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564040080	chr2:57793238-57793239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576997318	chr2:57793246-57793247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535481131	chr2:57793263-57793264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13386150	chr2:57793346-57793347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79288893	chr2:57793348-57793349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115761833	chr2:57793382-57793383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535374266	chr2:57793396-57793397	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57790400-57791400	Enhancers	Fetal Heart	heart
2	chr2:57793200-57794000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:57794000-57795600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:57795600-57796200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:57797800-57798600	Enhancers	Fetal Thymus	thymus

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