Variant report

Variant	esv2755383
Chromosome Location	chr2:123915791-123928492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MKI67IP-12	chr2:123917312-123917526	NONHSAT074095
2	lnc-MKI67IP-12	chr2:123918438-123918491	NONHSAT074095

Extended variants
information (count: 124 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142570527	chr2:123917327-123917328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs568913416	chr2:123917335-123917336	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187979257	chr2:123917350-123917351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs540308475	chr2:123917405-123917406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs554588068	chr2:123917438-123917439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554664886	chr2:123917446-123917447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576312411	chr2:123917455-123917456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560249520	chr2:123917469-123917470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs540040873	chr2:123917496-123917497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs553646942	chr2:123917498-123917499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs185074392	chr2:123918472-123918473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535735085	chr2:123918600-123918601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547110279	chr2:123918610-123918611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570275916	chr2:123918611-123918612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140453921	chr2:123918631-123918632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556182703	chr2:123918635-123918636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17009469	chr2:123918648-123918649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535468965	chr2:123918681-123918682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555761305	chr2:123918728-123918729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146489217	chr2:123918729-123918730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541504232	chr2:123918786-123918787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76555815	chr2:123918833-123918834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578182250	chr2:123918839-123918840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143721678	chr2:123918894-123918895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563818452	chr2:123918914-123918915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80036125	chr2:123918931-123918932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547851453	chr2:123918950-123918951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577011682	chr2:123918951-123918952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73951664	chr2:123918989-123918990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547044557	chr2:123918997-123918998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541131036	chr2:123918998-123918999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79784263	chr2:123919005-123919006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79990356	chr2:123919032-123919033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377048309	chr2:123919061-123919062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140983474	chr2:123919067-123919068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185348367	chr2:123919094-123919095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192171432	chr2:123919133-123919134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555392335	chr2:123919142-123919143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12616531	chr2:123919143-123919144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184604600	chr2:123919151-123919152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189345971	chr2:123919154-123919155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578173123	chr2:123919210-123919211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577221024	chr2:123919252-123919253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543638906	chr2:123919269-123919270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180706497	chr2:123919337-123919338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114641683	chr2:123919359-123919360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115621502	chr2:123919367-123919368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146451555	chr2:123919391-123919392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs981552	chr2:123920838-123920839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139052413	chr2:123920842-123920843	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Bladder cancer	21909424	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123918600-123919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:123918600-123919200	Enhancers	Fetal Lung	lung
3	chr2:123918600-123919400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:123918800-123919200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:123919000-123919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:123919000-123919400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:123920800-123921800	Enhancers	Fetal Stomach	stomach
8	chr2:123921000-123922600	Enhancers	Brain Germinal Matrix	brain
9	chr2:123921800-123922200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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