Variant report

Variant	esv2760589
Chromosome Location	chr2:57805393-57831099
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	chr2:57800058..57801669-chr2:57807424..57809542,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-7	chr2:57826063-57826269	uc_51_-
2	lnc-VRK2-12	chr2:57826063-57826269	uc_51_+
3	lnc-VRK2-13	chr2:57806334-57806788	l_1838_chr2:57801423-57806788_testes

Extended variants
information (count: 370 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10196737	chr2:57805439-57805440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535990079	chr2:57805440-57805441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539702239	chr2:57805441-57805442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552917537	chr2:57805454-57805455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369931678	chr2:57805498-57805499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111706324	chr2:57805503-57805504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192144252	chr2:57805547-57805548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561774598	chr2:57805589-57805590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575363263	chr2:57805597-57805598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77604310	chr2:57805606-57805607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564061957	chr2:57805627-57805628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532722276	chr2:57805775-57805776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552855647	chr2:57805786-57805787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530702782	chr2:57805796-57805797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575911269	chr2:57805813-57805814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182886061	chr2:57805871-57805872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35601691	chr2:57805896-57805897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528695294	chr2:57805918-57805919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187941970	chr2:57805939-57805940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17048934	chr2:57805942-57805943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568263956	chr2:57805950-57805951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537141272	chr2:57805986-57805987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550597872	chr2:57806017-57806018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138160496	chr2:57806065-57806066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17048935	chr2:57806080-57806081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12620981	chr2:57806091-57806092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78395154	chr2:57806120-57806121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575001097	chr2:57806129-57806130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549794772	chr2:57806139-57806140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569691375	chr2:57806164-57806165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535577388	chr2:57806167-57806168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555409419	chr2:57806169-57806170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555597982	chr2:57806186-57806187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112602314	chr2:57806200-57806201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17048940	chr2:57806205-57806206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142329507	chr2:57806208-57806209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564142071	chr2:57806231-57806232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577584084	chr2:57806250-57806251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191941420	chr2:57806265-57806266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539806248	chr2:57806270-57806271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560001107	chr2:57806275-57806276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528780121	chr2:57806317-57806318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548417505	chr2:57806323-57806324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561933678	chr2:57806324-57806325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369033994	chr2:57806334-57806335	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs550680651	chr2:57806341-57806342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs570821200	chr2:57806373-57806374	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs375418513	chr2:57806392-57806393	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs74920878	chr2:57806399-57806400	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs546630365	chr2:57806423-57806424	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57804200-57806600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:57824000-57825400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:57824200-57828200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:57824200-57828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:57824400-57824800	Enhancers	Thymus	Thymus
6	chr2:57824400-57826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:57824400-57826000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:57824800-57825200	Weak transcription	Thymus	Thymus
9	chr2:57824800-57828200	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:57825000-57825400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:57825000-57830200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:57825000-57830200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:57825200-57826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:57825200-57826000	Enhancers	Thymus	Thymus
15	chr2:57825400-57825600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:57825400-57826200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:57825400-57826200	Enhancers	Fetal Thymus	thymus
18	chr2:57825400-57826200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:57826000-57826200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:57826000-57827200	Weak transcription	Thymus	Thymus
21	chr2:57826000-57829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:57826200-57826600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:57826200-57827200	Weak transcription	Fetal Thymus	thymus
24	chr2:57826200-57828600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:57826400-57827400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:57826600-57827000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:57827000-57828000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:57827000-57828600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:57827200-57827400	Enhancers	Thymus	Thymus
30	chr2:57827200-57828000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:57827200-57828000	Enhancers	Fetal Thymus	thymus
32	chr2:57827400-57827800	Weak transcription	Thymus	Thymus
33	chr2:57827400-57828200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:57827400-57828600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:57827800-57828000	Enhancers	Thymus	Thymus
36	chr2:57828000-57829600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:57828000-57831600	Weak transcription	Fetal Thymus	thymus
38	chr2:57828000-57842200	Weak transcription	Thymus	Thymus
39	chr2:57828200-57829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:57828200-57829200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:57828200-57829200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:57828200-57829600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:57828600-57829600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:57829000-57830400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:57829200-57829400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:57829200-57830200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:57829600-57830000	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:57829600-57830000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:57829600-57830400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:57829800-57830200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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