Variant report

Variant	esv2762260
Chromosome Location	chr2:67348997-67361958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-16	chr2:67349120-67349274	ucscGeneNc_uc002sdx_2
2	lnc-C1D-3	chr2:67351802-67351995	XLOC_002142
3	lnc-ETAA1-16	chr2:67349120-67349274	NONHSAT071254
4	lnc-ETAA1-6	chr2:67348944-67349002	ENSG00000230906.2
5	lnc-C1D-3	chr2:67353378-67353522	XLOC_002142
6	lnc-C1D-3	chr2:67353378-67353522	XLOC_002142
7	lnc-C1D-3	chr2:67350489-67351995	XLOC_002142

Variant related genes	Relation type
ZEB1	miRNA target sites

Extended variants
information (count: 486 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4671171	chr2:67348997-67348998	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532210926	chr2:67348998-67348999	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs544956335	chr2:67349032-67349033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4671172	chr2:67349104-67349105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113763787	chr2:67349107-67349108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4671774	chr2:67349111-67349112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537418063	chr2:67349158-67349159	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs547788480	chr2:67349177-67349178	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs12469573	chr2:67349183-67349184	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12477644	chr2:67349209-67349210	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs554342159	chr2:67349268-67349269	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs577395600	chr2:67349295-67349296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34722554	chr2:67349296-67349297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556349932	chr2:67349326-67349327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13025655	chr2:67349362-67349363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141153197	chr2:67349389-67349390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12465866	chr2:67349395-67349396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs185576822	chr2:67349440-67349441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12713591	chr2:67349441-67349442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs560277682	chr2:67349467-67349468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532170395	chr2:67349483-67349484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144866507	chr2:67349510-67349511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1921285	chr2:67349526-67349527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12477822	chr2:67349537-67349538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547776395	chr2:67349557-67349558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567766208	chr2:67349570-67349571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534200994	chr2:67349571-67349572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369463116	chr2:67349586-67349587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151177139	chr2:67349587-67349588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs70947337	chr2:67349589-67349590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78819397	chr2:67349590-67349591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12469731	chr2:67349611-67349612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72809871	chr2:67349616-67349617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12477833	chr2:67349711-67349712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs556725741	chr2:67349719-67349720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377699097	chr2:67349762-67349763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377057287	chr2:67349770-67349771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550976985	chr2:67349777-67349778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189288040	chr2:67349780-67349781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12477913	chr2:67349792-67349793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201698439	chr2:67349958-67349959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370754402	chr2:67349962-67349963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373527034	chr2:67349963-67349964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572504552	chr2:67349980-67349981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541429444	chr2:67349981-67349982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560157071	chr2:67350063-67350064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181027026	chr2:67350078-67350079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546822426	chr2:67350125-67350126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545641294	chr2:67350140-67350141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1921284	chr2:67350146-67350147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67346800-67350600	Weak transcription	Fetal Lung	lung
2	chr2:67350600-67352400	Enhancers	Fetal Lung	lung
3	chr2:67352400-67357200	Weak transcription	Fetal Lung	lung
4	chr2:67355400-67358600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:67355800-67356200	Enhancers	Pancreas	Pancrea
6	chr2:67356800-67358800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:67357000-67358400	Enhancers	Fetal Kidney	kidney
8	chr2:67357000-67358600	Enhancers	Fetal Stomach	stomach
9	chr2:67357200-67357600	Enhancers	NHLF	lung
10	chr2:67357200-67358600	Enhancers	Fetal Lung	lung
11	chr2:67357200-67358600	Enhancers	Hela-S3	cervix
12	chr2:67357400-67357600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:67357400-67358600	Enhancers	HUVEC	blood vessel
14	chr2:67357400-67358600	Enhancers	NH-A	brain
15	chr2:67357600-67358000	Weak transcription	NHLF	lung
16	chr2:67357600-67358600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:67357600-67358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:67357800-67358000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:67357800-67358600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:67357800-67358600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:67357800-67358600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:67358000-67358600	Enhancers	NHLF	lung
23	chr2:67358200-67358400	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:67358600-67361000	Weak transcription	Hela-S3	cervix
25	chr2:67358600-67361800	Weak transcription	Fetal Lung	lung
26	chr2:67361000-67361200	Enhancers	Hela-S3	cervix
27	chr2:67361800-67362600	Enhancers	Fetal Lung	lung

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