Variant report

Variant	esv1794298
Chromosome Location	chr2:36924040-36929933
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36928366..36930832-chr2:36932347..36935302,2	MCF-7	breast:
2	chr2:36928051..36929243-chr2:36997518..36998542,3	MCF-7	breast:
3	chr2:36928747..36929575-chr2:36997645..36998372,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FEZ2-5	chr2:36927423-36927967	expReg_chr2_2337_-
2	lnc-FEZ2-4	chr2:36926267-36926537	expReg_chr2_2328_-
3	lnc-FEZ2-2	chr2:36924810-36925173	expReg_chr2_2321_-
4	lnc-FEZ2-3	chr2:36925545-36925959	expReg_chr2_2324_-

No data

Extended variants
information (count: 341 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7563754	chr2:36924040-36924041	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80048790	chr2:36924128-36924129	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375840274	chr2:36924150-36924151	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551541292	chr2:36924155-36924156	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs2160330	chr2:36924177-36924178	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567080475	chr2:36924216-36924217	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11282615	chr2:36924222-36924223	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34385908	chr2:36924223-36924224	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs57860563	chr2:36924224-36924225	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537362265	chr2:36924233-36924234	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147095774	chr2:36924243-36924244	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs199950033	chr2:36924248-36924249	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs57623850	chr2:36924327-36924328	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs62132513	chr2:36924330-36924331	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567549256	chr2:36924342-36924343	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7599711	chr2:36924363-36924364	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538197516	chr2:36924407-36924408	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376540896	chr2:36924477-36924478	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138455684	chr2:36924480-36924481	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186127422	chr2:36924549-36924550	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs6722903	chr2:36924565-36924566	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189501475	chr2:36924575-36924576	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561996686	chr2:36924578-36924579	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573843684	chr2:36924584-36924585	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140785662	chr2:36924589-36924590	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557645814	chr2:36924638-36924639	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12989101	chr2:36924663-36924664	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs545135325	chr2:36924734-36924735	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563362539	chr2:36924736-36924737	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs150103873	chr2:36924760-36924761	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181934331	chr2:36924776-36924777	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567661790	chr2:36924794-36924795	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372228905	chr2:36924848-36924849	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs375587780	chr2:36924873-36924874	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs17019460	chr2:36924893-36924894	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547174840	chr2:36924919-36924920	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs538033612	chr2:36924921-36924922	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs36031300	chr2:36924933-36924934	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543769531	chr2:36924934-36924935	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs149258106	chr2:36924951-36924952	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs12618264	chr2:36924963-36924964	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533422616	chr2:36924969-36924970	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs569751929	chr2:36924972-36924973	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs114127619	chr2:36924978-36924979	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs545337332	chr2:36925000-36925001	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs552382486	chr2:36925096-36925097	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs573882861	chr2:36925183-36925184	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540925418	chr2:36925211-36925212	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs78077981	chr2:36925217-36925218	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186479680	chr2:36925227-36925228	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36922400-36925200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:36922600-36924600	Enhancers	Hela-S3	cervix
3	chr2:36922600-36924600	Enhancers	HSMM	muscle
4	chr2:36922800-36925000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:36922800-36925200	Enhancers	Fetal Lung	lung
6	chr2:36922800-36925200	Enhancers	NH-A	brain
7	chr2:36922800-36925400	Flanking Active TSS	Osteobl	bone
8	chr2:36922800-36925800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:36922800-36925800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:36923200-36924600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:36923200-36924600	Weak transcription	HSMMtube	muscle
12	chr2:36923200-36924800	Enhancers	NHLF	lung
13	chr2:36923200-36925000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:36923200-36925600	Active TSS	NHDF-Ad	bronchial
15	chr2:36923400-36924600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:36923400-36925200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:36923400-36925400	Flanking Active TSS	HUVEC	blood vessel
18	chr2:36923400-36925600	Active TSS	Right Atrium	heart
19	chr2:36923400-36925800	Active TSS	Ovary	ovary
20	chr2:36923600-36924200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:36923600-36924600	Weak transcription	A549	lung
22	chr2:36923800-36924400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:36923800-36924600	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:36923800-36925400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:36924000-36924400	Enhancers	HMEC	breast
26	chr2:36924000-36924400	Enhancers	NHEK	skin
27	chr2:36924000-36924800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:36924000-36925000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:36924000-36925000	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:36924000-36925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:36924000-36925400	Active TSS	Adipose Nuclei	Adipose
32	chr2:36924200-36924400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:36924400-36925000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:36924400-36925000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:36924400-36925200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:36924400-36925200	Flanking Active TSS	HMEC	breast
37	chr2:36924400-36925200	Flanking Active TSS	NHEK	skin
38	chr2:36924400-36925600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:36924400-36925800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:36924400-36925800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:36924600-36924800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:36924600-36925000	Flanking Active TSS	A549	lung
43	chr2:36924600-36925000	Enhancers	HepG2	liver
44	chr2:36924600-36925200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:36924600-36925200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:36924600-36925200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:36924600-36925200	Active TSS	Left Ventricle	heart
48	chr2:36924600-36925200	Active TSS	Psoas Muscle	Psoas
49	chr2:36924600-36925200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:36924600-36925200	Flanking Active TSS	Hela-S3	cervix

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