Variant report

Variant	nsv962033
Chromosome Location	chr2:67794826-67798059
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:1)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67789891..67792734-chr2:67796111..67797730,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-4	chr2:67797134-67797232	XLOC_001515
2	lnc-ETAA1-4	chr2:67797134-67797232	XLOC_001515
3	lnc-ETAA1-4	chr2:67795140-67795288	XLOC_001515
4	lnc-ETAA1-4	chr2:67795140-67795288	XLOC_001515
5	lnc-ETAA1-4	chr2:67795140-67795288	XLOC_001515
6	lnc-ETAA1-4	chr2:67795140-67795288	XLOC_001515
7	lnc-ETAA1-4	chr2:67795139-67795288	NONHSAT071295
8	lnc-ETAA1-4	chr2:67797134-67797232	XLOC_001515
9	lnc-ETAA1-4	chr2:67797134-67797237	XLOC_001515
10	lnc-ETAA1-4	chr2:67797133-67797237	NONHSAT071295

No data

Variant related genes	Relation type
LMNB1	miRNA target sites
TROVE2	miRNA target sites

Extended variants
information (count: 127 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372203155	chr2:67794854-67794855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561256205	chr2:67794860-67794861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141146728	chr2:67794861-67794862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187445426	chr2:67794875-67794876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546296581	chr2:67794878-67794879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191120417	chr2:67794913-67794914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539149586	chr2:67794916-67794917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552385977	chr2:67794955-67794956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569313031	chr2:67794965-67794966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538250637	chr2:67794989-67794990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150708377	chr2:67794990-67794991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574004058	chr2:67794991-67794992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11900117	chr2:67795023-67795024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs553169783	chr2:67795060-67795061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182839039	chr2:67795072-67795073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138329723	chr2:67795112-67795113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367563704	chr2:67795178-67795179	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2270342	chr2:67795200-67795201	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187153105	chr2:67795253-67795254	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs560513211	chr2:67795270-67795271	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs192013659	chr2:67795298-67795299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184513893	chr2:67795320-67795321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143033616	chr2:67795321-67795322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187398034	chr2:67795352-67795353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78755535	chr2:67795371-67795372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2270343	chr2:67795378-67795379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551008415	chr2:67795423-67795424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77014788	chr2:67795447-67795448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2902007	chr2:67795462-67795463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111548438	chr2:67795477-67795478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552634829	chr2:67795487-67795488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568451943	chr2:67795491-67795492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536580071	chr2:67795499-67795500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552991115	chr2:67795509-67795510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566272170	chr2:67795510-67795511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140121049	chr2:67795537-67795538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2270344	chr2:67795549-67795550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13424963	chr2:67795566-67795567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575017752	chr2:67795598-67795599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543886610	chr2:67795605-67795606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2270345	chr2:67795610-67795611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112438540	chr2:67795701-67795702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369826776	chr2:67795762-67795763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2270346	chr2:67795852-67795853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193004484	chr2:67795864-67795865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529203772	chr2:67795884-67795885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532790968	chr2:67795897-67795898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546101360	chr2:67795992-67795993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78252073	chr2:67796000-67796001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557793290	chr2:67796026-67796027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67789400-67795000	Weak transcription	Fetal Lung	lung
2	chr2:67789800-67795800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:67790400-67798600	Weak transcription	Pancreas	Pancrea
4	chr2:67790800-67795000	Enhancers	NHDF-Ad	bronchial
5	chr2:67790800-67795600	Enhancers	Osteobl	bone
6	chr2:67792000-67795200	Weak transcription	Fetal Heart	heart
7	chr2:67792600-67795400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:67792800-67795600	Enhancers	A549	lung
9	chr2:67793400-67795400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:67793400-67795400	Enhancers	NH-A	brain
11	chr2:67793600-67799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:67793800-67799600	Weak transcription	Psoas Muscle	Psoas
13	chr2:67793800-67800400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:67793800-67803000	Weak transcription	Fetal Stomach	stomach
15	chr2:67794400-67798200	Weak transcription	Stomach Mucosa	stomach
16	chr2:67794400-67798600	Weak transcription	Left Ventricle	heart
17	chr2:67794400-67798600	Weak transcription	NHLF	lung
18	chr2:67794600-67796200	Enhancers	Hela-S3	cervix
19	chr2:67794600-67799000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:67794600-67799400	Weak transcription	HSMMtube	muscle
21	chr2:67794800-67799400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:67795000-67795600	Enhancers	Fetal Lung	lung
23	chr2:67795200-67796000	Enhancers	Fetal Heart	heart
24	chr2:67795400-67798600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:67795400-67799600	Weak transcription	NH-A	brain
26	chr2:67795600-67797800	Weak transcription	A549	lung
27	chr2:67795600-67799800	Weak transcription	Osteobl	bone
28	chr2:67795600-67802800	Weak transcription	Fetal Lung	lung
29	chr2:67795800-67798200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:67796200-67798000	Weak transcription	Hela-S3	cervix
31	chr2:67797800-67798200	ZNF genes & repeats	A549	lung
32	chr2:67798000-67799800	Enhancers	Hela-S3	cervix

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