Variant report

Variant	nsv581339
Chromosome Location	chr2:34275757-34298533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:34282612-34282876	A549	lung:	n/a	n/a
2	CEBPB	chr2:34282589-34282874	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:34292173-34292361	HepG2	liver:	n/a	chr2:34292232-34292243
4	CTCF	chr2:34277080-34277230	RPTEC	kidney:	n/a	n/a
5	E2F4	chr2:34289805-34290093	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr2:34291109-34291397	GM12878	blood:	n/a	n/a
7	JUN	chr2:34292140-34292339	HepG2	liver:	n/a	chr2:34292218-34292231 chr2:34292196-34292209 chr2:34292233-34292246
8	JUN	chr2:34282669-34282870	HepG2	liver:	n/a	chr2:34282729-34282742
9	JUND	chr2:34292176-34292349	HepG2	liver:	n/a	n/a
10	MAFF	chr2:34292229-34292356	HepG2	liver:	n/a	n/a
11	MAFF	chr2:34284189-34284438	HepG2	liver:	n/a	n/a
12	MAFK	chr2:34292185-34292375	HepG2	liver:	n/a	chr2:34292274-34292288 chr2:34292267-34292284
13	MAFK	chr2:34284151-34284332	IMR90	lung:	n/a	n/a
14	MAFK	chr2:34284166-34284362	HepG2	liver:	n/a	n/a
15	MAFK	chr2:34292222-34292413	HepG2	liver:	n/a	chr2:34292274-34292288 chr2:34292267-34292284
16	MAFK	chr2:34283943-34284451	HepG2	liver:	n/a	chr2:34283969-34283980 chr2:34283970-34283981 chr2:34283968-34283982 chr2:34283969-34283980
17	NFYB	chr2:34291138-34291235	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr2:34297673-34297869	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:34286602-34286721	ProgFib	skin:	n/a	n/a
20	POLR2A	chr2:34282808-34282908	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr2:34289929-34289994	A549	lung:	n/a	n/a
22	RAD21	chr2:34281581-34281875	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr2:34281579-34281951	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr2:34281688-34281905	H1-hESC	embryonic stem cell:	n/a	n/a
25	SMC3	chr2:34293718-34293720	GM12878	blood:	n/a	n/a
26	USF2	chr2:34281589-34281595	HepG2	liver:	n/a	n/a
27	ZNF143	chr2:34290294-34290318	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
2	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
3	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
4	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
5	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
6	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
7	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031

Variant related genes	Relation type
ENSG00000237790	TF binding region

Extended variants
information (count: 459 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:459 , 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	rs4670315	chr2:34275757-34275758	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs75762229	chr2:34275772-34275773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539370765	chr2:34275794-34275795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146381110	chr2:34275835-34275836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6744782	chr2:34275884-34275885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535630957	chr2:34275887-34275888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377216175	chr2:34275932-34275933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375992072	chr2:34275946-34275947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200925073	chr2:34275947-34275948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554415592	chr2:34275948-34275949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554810668	chr2:34275954-34275955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397810114	chr2:34275955-34275956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6716688	chr2:34275956-34275957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370273977	chr2:34275963-34275964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139096972	chr2:34275967-34275968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374345998	chr2:34275972-34275973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2887158	chr2:34275974-34275975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370061637	chr2:34275985-34275986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569593450	chr2:34284364-34284365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs538628972	chr2:34284405-34284406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs58080018	chr2:34284412-34284413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs371096135	chr2:34284414-34284415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs552218480	chr2:34284418-34284419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs565947105	chr2:34284496-34284497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs10192086	chr2:34284574-34284575	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574244717	chr2:34284630-34284631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536354893	chr2:34284638-34284639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556609420	chr2:34284642-34284643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528819821	chr2:34284666-34284667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142254295	chr2:34284680-34284681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11302436	chr2:34284748-34284749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34057795	chr2:34284759-34284760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540263169	chr2:34284764-34284765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558646091	chr2:34284788-34284789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562149568	chr2:34284802-34284803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181225547	chr2:34284820-34284821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561477371	chr2:34284835-34284836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368128813	chr2:34284842-34284843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9308945	chr2:34284852-34284853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
40	rs10179886	chr2:34284855-34284856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532047909	chr2:34284861-34284862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552163859	chr2:34284920-34284921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187096760	chr2:34284939-34284940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528371388	chr2:34284948-34284949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57496052	chr2:34284961-34284962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569014917	chr2:34284970-34284971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6711736	chr2:34284984-34284985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
48	rs146826653	chr2:34285009-34285010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556409599	chr2:34285036-34285037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530477548	chr2:34285059-34285060	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34275000-34276000	Enhancers	Fetal Heart	heart
2	chr2:34284600-34285200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:34293000-34293200	Enhancers	Brain Hippocampus Middle	brain
4	chr2:34293000-34293600	Enhancers	Brain Substantia Nigra	brain
5	chr2:34293400-34294800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:34293600-34295000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:34294200-34294600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:34294200-34295200	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:34294200-34295800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:34294400-34294800	Enhancers	Brain Anterior Caudate	brain
11	chr2:34294600-34296200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:34294800-34295000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:34295000-34295400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr2:34295000-34295400	Enhancers	Brain Substantia Nigra	brain
15	chr2:34295200-34295400	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr2:34295400-34296200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:34295400-34296400	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:34295400-34296400	Enhancers	Brain Hippocampus Middle	brain
19	chr2:34296200-34296600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:34296200-34296600	ZNF genes & repeats	Brain Substantia Nigra	brain

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