Variant report

Variant	nsv582099
Chromosome Location	chr2:59494725-59563744
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:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:59559250..59562252-chr2:59565347..59568219,3	K562	blood:
2	chr2:59507121..59509664-chr2:59510159..59513114,2	K562	blood:
3	chr2:59507121..59509664-chr2:59510159..59513114,2	K562	blood:
4	chr2:59293945..59296234-chr2:59499325..59502113,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-6	chr2:59504667-59506535	ENSG00000222030
2	lnc-VRK2-19	chr2:59522732-59522900	NONHSAT070876
3	lnc-VRK2-19	chr2:59521269-59521386	NONHSAT070876
4	lnc-VRK2-19	chr2:59515852-59516002	NONHSAT070876
5	lnc-FANCL-3	chr2:59549393-59549453	ENSG00000233891.3
6	lnc-FANCL-3	chr2:59525350-59525442	ENSG00000233891.3
7	lnc-FANCL-3	chr2:59522515-59522729	ENSG00000233891.3

No data

Extended variants
information (count: 1475 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1475 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531553267	chr2:59503735-59503736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7586283	chr2:59503755-59503756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs530919611	chr2:59503766-59503767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558206302	chr2:59503818-59503819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145480740	chr2:59503841-59503842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74700263	chr2:59503842-59503843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202083592	chr2:59503843-59503844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200689087	chr2:59503844-59503845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368339432	chr2:59503862-59503863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12328691	chr2:59503878-59503879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144411327	chr2:59503931-59503932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569829977	chr2:59503933-59503934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547583665	chr2:59504030-59504031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566191640	chr2:59504051-59504052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539923118	chr2:59504065-59504066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35293468	chr2:59504118-59504119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558231813	chr2:59504139-59504140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184614475	chr2:59504147-59504148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372965163	chr2:59504198-59504199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537013321	chr2:59504210-59504211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556031733	chr2:59504220-59504221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574223385	chr2:59504250-59504251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190329092	chr2:59504268-59504269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192274596	chr2:59504287-59504288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559506512	chr2:59504293-59504294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184472367	chr2:59504315-59504316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62148568	chr2:59504349-59504350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377203284	chr2:59504354-59504355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562546506	chr2:59504389-59504390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532410229	chr2:59504432-59504433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17050060	chr2:59504471-59504472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548289155	chr2:59504520-59504521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565500185	chr2:59504549-59504550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531346707	chr2:59504551-59504552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189625671	chr2:59504592-59504593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562034254	chr2:59504594-59504595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529165495	chr2:59504597-59504598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547644389	chr2:59504661-59504662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565879525	chr2:59504672-59504673	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs539981342	chr2:59504673-59504674	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs551917112	chr2:59504674-59504675	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs199747107	chr2:59504682-59504683	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs373349640	chr2:59504686-59504687	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs78531867	chr2:59504688-59504689	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs13392469	chr2:59504693-59504694	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537475720	chr2:59504726-59504727	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs555441713	chr2:59504750-59504751	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs567984935	chr2:59504761-59504762	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs114429224	chr2:59504771-59504772	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs1558596	chr2:59504776-59504777	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:59503600-59504200	Enhancers	Fetal Intestine Small	intestine
2	chr2:59504200-59504600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:59504200-59504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:59504600-59509200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:59509200-59510600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:59512600-59513400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:59515200-59516000	Enhancers	Dnd41	blood
8	chr2:59522000-59522200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:59522000-59522400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:59522000-59523600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:59522000-59524200	Enhancers	Fetal Heart	heart
12	chr2:59522200-59522400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:59522200-59523200	Enhancers	Colon Smooth Muscle	Colon
14	chr2:59522200-59524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:59522400-59522600	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr2:59522400-59523000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:59522400-59523800	Enhancers	Fetal Lung	lung
18	chr2:59522400-59525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:59522600-59523600	Enhancers	Fetal Intestine Small	intestine
20	chr2:59522800-59523600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:59523000-59523800	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:59523600-59523800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:59523600-59525400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:59523600-59528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:59523800-59528600	Weak transcription	Fetal Lung	lung
26	chr2:59523800-59528800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:59524000-59525000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:59524400-59525600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:59524600-59524800	Enhancers	Fetal Thymus	thymus
30	chr2:59524800-59535000	Weak transcription	Fetal Thymus	thymus
31	chr2:59525000-59525200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:59525000-59525400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:59525200-59526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:59525200-59528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:59525400-59526200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:59525400-59526200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:59525400-59526400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:59525600-59526200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:59525800-59526400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:59525800-59527000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:59526000-59526400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:59526000-59526400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:59526000-59526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:59526200-59526400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:59526200-59528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:59526400-59528400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:59526400-59528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:59526400-59528600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:59526400-59528600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:59526400-59528800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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