Variant report

Variant	nsv874194
Chromosome Location	chr2:57793672-57896756
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:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:57800058..57801669-chr2:57807424..57809542,2	K562	blood:
2	chr2:57800058..57801669-chr2:57807424..57809542,2	K562	blood:
3	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:
4	chr2:57835362..57837031-chr2:57842743..57844296,2	MCF-7	breast:
5	chr2:57794327..57795954-chr2:57796915..57799788,2	K562	blood:
6	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:
7	chr2:57794327..57795954-chr2:57796915..57799788,2	K562	blood:
8	chr2:57835362..57837031-chr2:57842743..57844296,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-15	chr2:57793606-57793820	l_1837_chr2:57781955-57793820_testes
2	lnc-VRK2-12	chr2:57826063-57826269	uc_51_+
3	lnc-VRK2-13	chr2:57801424-57801615	l_1838_chr2:57801423-57806788_testes
4	lnc-FANCL-7	chr2:57826063-57826269	uc_51_-
5	lnc-VRK2-13	chr2:57806334-57806788	l_1838_chr2:57801423-57806788_testes
6	lnc-VRK2-13	chr2:57803525-57803591	l_1838_chr2:57801423-57806788_testes

No data

Extended variants
information (count: 2453 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2453 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4144515	chr2:57793672-57793673	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146610300	chr2:57793738-57793739	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs538364711	chr2:57793739-57793740	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs149206647	chr2:57793766-57793767	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533104152	chr2:57793774-57793775	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs557992565	chr2:57793803-57793804	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540317574	chr2:57793819-57793820	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560219864	chr2:57793858-57793859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528918732	chr2:57793859-57793860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548930536	chr2:57793868-57793869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568670334	chr2:57793884-57793885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143392944	chr2:57793936-57793937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191718870	chr2:57793944-57793945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577581305	chr2:57793947-57793948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540241063	chr2:57793968-57793969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539579039	chr2:57793969-57793970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114640510	chr2:57793972-57793973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182545409	chr2:57794012-57794013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566595686	chr2:57794047-57794048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535469943	chr2:57794051-57794052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555690137	chr2:57794072-57794073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148387861	chr2:57794100-57794101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544486983	chr2:57794107-57794108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557704901	chr2:57794129-57794130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187249756	chr2:57794182-57794183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193017251	chr2:57794187-57794188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72950031	chr2:57794205-57794206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185208470	chr2:57794221-57794222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190601538	chr2:57794229-57794230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28695681	chr2:57794230-57794231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193150976	chr2:57794236-57794237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551239773	chr2:57794256-57794257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374177689	chr2:57794266-57794267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572846934	chr2:57794306-57794307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570736564	chr2:57794309-57794310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141407043	chr2:57794321-57794322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183564027	chr2:57794332-57794333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566632511	chr2:57794372-57794373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12052598	chr2:57794393-57794394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535944222	chr2:57794413-57794414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541649185	chr2:57794460-57794461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72818146	chr2:57794509-57794510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569222445	chr2:57794549-57794550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113381236	chr2:57794574-57794575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17048928	chr2:57794610-57794611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377673001	chr2:57794649-57794650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71393589	chr2:57794660-57794661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61149690	chr2:57794661-57794662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10178137	chr2:57794684-57794685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558055399	chr2:57794716-57794717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57793200-57794000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:57794000-57795600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:57795600-57796200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:57797800-57798600	Enhancers	Fetal Thymus	thymus
5	chr2:57801800-57802200	Enhancers	Primary T cells from cord blood	blood
6	chr2:57804200-57806600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:57824000-57825400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:57824200-57828200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:57824200-57828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:57824400-57824800	Enhancers	Thymus	Thymus
11	chr2:57824400-57826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:57824400-57826000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:57824800-57825200	Weak transcription	Thymus	Thymus
14	chr2:57824800-57828200	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:57825000-57825400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:57825000-57830200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:57825000-57830200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:57825200-57826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:57825200-57826000	Enhancers	Thymus	Thymus
20	chr2:57825400-57825600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:57825400-57826200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:57825400-57826200	Enhancers	Fetal Thymus	thymus
23	chr2:57825400-57826200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:57826000-57826200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:57826000-57827200	Weak transcription	Thymus	Thymus
26	chr2:57826000-57829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:57826200-57826600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:57826200-57827200	Weak transcription	Fetal Thymus	thymus
29	chr2:57826200-57828600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:57826400-57827400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:57826600-57827000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:57827000-57828000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr2:57827000-57828600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:57827200-57827400	Enhancers	Thymus	Thymus
35	chr2:57827200-57828000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:57827200-57828000	Enhancers	Fetal Thymus	thymus
37	chr2:57827400-57827800	Weak transcription	Thymus	Thymus
38	chr2:57827400-57828200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:57827400-57828600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:57827800-57828000	Enhancers	Thymus	Thymus
41	chr2:57828000-57829600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:57828000-57831600	Weak transcription	Fetal Thymus	thymus
43	chr2:57828000-57842200	Weak transcription	Thymus	Thymus
44	chr2:57828200-57829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:57828200-57829200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:57828200-57829200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:57828200-57829600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:57828600-57829600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:57829000-57830400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:57829200-57829400	Enhancers	HUES64 Cell Line	embryonic stem cell

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