Variant report

Variant	esv32749
Chromosome Location	chr2:59504946-59509123
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	chr2:59507121..59509664-chr2:59510159..59513114,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-6	chr2:59504667-59506535	ENSG00000222030

Extended variants
information (count: 148 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77249815	chr2:59504949-59504950	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs559648185	chr2:59504954-59504955	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140205805	chr2:59504999-59505000	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs142264587	chr2:59505000-59505001	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181921641	chr2:59505007-59505008	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs530894647	chr2:59505018-59505019	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549386981	chr2:59505035-59505036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs186105659	chr2:59505039-59505040	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs17050064	chr2:59505041-59505042	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573171759	chr2:59505088-59505089	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs76909742	chr2:59505175-59505176	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs571558296	chr2:59505191-59505192	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs538866167	chr2:59505233-59505234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs557239145	chr2:59505264-59505265	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs1861150	chr2:59505265-59505266	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373549275	chr2:59505315-59505316	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs543127779	chr2:59505325-59505326	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs1861149	chr2:59505326-59505327	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574867486	chr2:59505380-59505381	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540981677	chr2:59505427-59505428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140456725	chr2:59505439-59505440	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs189018913	chr2:59505445-59505446	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs181471261	chr2:59505473-59505474	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563318384	chr2:59505479-59505480	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs531082711	chr2:59505487-59505488	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs370941949	chr2:59505511-59505512	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs150416395	chr2:59505520-59505521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs542383111	chr2:59505555-59505556	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs567380036	chr2:59505575-59505576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs111719771	chr2:59505600-59505601	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs372129970	chr2:59505605-59505606	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs1861148	chr2:59505612-59505613	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1861147	chr2:59505621-59505622	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147695589	chr2:59505643-59505644	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs544303786	chr2:59505759-59505760	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs551181987	chr2:59505764-59505765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569346186	chr2:59505830-59505831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs536815203	chr2:59505961-59505962	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs555174337	chr2:59505965-59505966	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs573752076	chr2:59505990-59505991	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs141321803	chr2:59506054-59506055	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs186473233	chr2:59506059-59506060	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564473511	chr2:59506095-59506096	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs370885031	chr2:59506101-59506102	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs532316786	chr2:59506147-59506148	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190035007	chr2:59506157-59506158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs113525974	chr2:59506161-59506162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs185855273	chr2:59506170-59506171	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs373975868	chr2:59506228-59506229	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs7563298	chr2:59506272-59506273	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59504600-59509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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