Variant report

Variant	nsv581338
Chromosome Location	chr2:34267179-34290968
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	chr2:34282589-34282874	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:34282612-34282876	A549	lung:	n/a	n/a
3	CTCF	chr2:34277080-34277230	RPTEC	kidney:	n/a	n/a
4	E2F4	chr2:34289805-34290093	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr2:34267505-34267860	T-47D	breast:	n/a	n/a
6	ESR1	chr2:34267539-34267867	T-47D	breast:	n/a	n/a
7	FOXA1	chr2:34267493-34267675	T-47D	breast:	n/a	n/a
8	GATA3	chr2:34267452-34267789	T-47D	breast:	n/a	n/a
9	JUN	chr2:34282669-34282870	HepG2	liver:	n/a	chr2:34282729-34282742
10	JUN	chr2:34267121-34267321	K562	blood:	n/a	n/a
11	MAFF	chr2:34284189-34284438	HepG2	liver:	n/a	n/a
12	MAFK	chr2:34284166-34284362	HepG2	liver:	n/a	n/a
13	MAFK	chr2:34283943-34284451	HepG2	liver:	n/a	chr2:34283969-34283980 chr2:34283970-34283981 chr2:34283968-34283982 chr2:34283969-34283980
14	MAFK	chr2:34284151-34284332	IMR90	lung:	n/a	n/a
15	POLR2A	chr2:34282808-34282908	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:34289929-34289994	A549	lung:	n/a	n/a
17	POLR2A	chr2:34268782-34268982	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:34270924-34270967	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:34275659-34275692	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:34286602-34286721	ProgFib	skin:	n/a	n/a
21	RAD21	chr2:34281581-34281875	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr2:34281688-34281905	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr2:34281579-34281951	H1-hESC	embryonic stem cell:	n/a	n/a
24	USF2	chr2:34281589-34281595	HepG2	liver:	n/a	n/a
25	ZNF143	chr2:34290294-34290318	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
2	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
3	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
4	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031

Variant related genes	Relation type
ENSG00000237790	TF binding region

Extended variants
information (count: 221 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530148863	chr2:34270404-34270405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149550005	chr2:34270416-34270417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555909755	chr2:34270420-34270421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77884641	chr2:34270435-34270436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74435571	chr2:34270449-34270450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552868652	chr2:34270463-34270464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566646204	chr2:34270472-34270473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544661391	chr2:34270474-34270475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566297212	chr2:34270490-34270491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79421865	chr2:34270498-34270499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370528539	chr2:34270576-34270577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546781421	chr2:34270594-34270595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191169519	chr2:34275008-34275009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138979338	chr2:34275052-34275053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543769923	chr2:34275067-34275068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13402466	chr2:34275103-34275104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572368190	chr2:34275127-34275128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183962152	chr2:34275145-34275146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552782759	chr2:34275147-34275148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559523997	chr2:34275166-34275167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78017324	chr2:34275184-34275185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553496785	chr2:34275186-34275187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188659894	chr2:34275193-34275194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192736467	chr2:34275211-34275212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567965493	chr2:34275225-34275226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142234292	chr2:34275259-34275260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4670314	chr2:34275263-34275264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184122822	chr2:34275292-34275293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542259251	chr2:34275316-34275317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539284913	chr2:34275379-34275380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552765160	chr2:34275401-34275402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4671034	chr2:34275402-34275403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10495808	chr2:34275434-34275435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575612399	chr2:34275517-34275518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574779511	chr2:34275522-34275523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543833454	chr2:34275539-34275540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368421666	chr2:34275542-34275543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79112412	chr2:34275550-34275551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546482754	chr2:34275564-34275565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559715692	chr2:34275609-34275610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187185758	chr2:34275650-34275651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551668708	chr2:34275653-34275654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560210686	chr2:34275654-34275655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527239031	chr2:34275659-34275660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77102403	chr2:34275666-34275667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561820559	chr2:34275684-34275685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191652124	chr2:34275693-34275694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4670315	chr2:34275757-34275758	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs75762229	chr2:34275772-34275773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539370765	chr2:34275794-34275795	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34270400-34270600	Enhancers	Brain Substantia Nigra	brain
2	chr2:34275000-34276000	Enhancers	Fetal Heart	heart
3	chr2:34284600-34285200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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