Variant report

Variant	esv3367274
Chromosome Location	chr2:35033798-35035696
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	STAT3	chr2:35035165-35035293	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053

Variant related genes	Relation type
RN7SL602P	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539868650	chr2:35033846-35033847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553385538	chr2:35033883-35033884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573326254	chr2:35033891-35033892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541954672	chr2:35033899-35033900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180671184	chr2:35033907-35033908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369929573	chr2:35033919-35033920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374662565	chr2:35033933-35033934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544361928	chr2:35033944-35033945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13402513	chr2:35033964-35033965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2259197	chr2:35033996-35033997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539904785	chr2:35034004-35034005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184202759	chr2:35034090-35034091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35060085	chr2:35034093-35034094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372814607	chr2:35034127-35034128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536324255	chr2:35034135-35034136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528832086	chr2:35034137-35034138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548696696	chr2:35034152-35034153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188531813	chr2:35034192-35034193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369609237	chr2:35034226-35034227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551320315	chr2:35034227-35034228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181666158	chr2:35034259-35034260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2371735	chr2:35034260-35034261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553457145	chr2:35034261-35034262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566849680	chr2:35034293-35034294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186652904	chr2:35034298-35034299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192438889	chr2:35034302-35034303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575622042	chr2:35034313-35034314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548811022	chr2:35034339-35034340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs537718191	chr2:35034346-35034347	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs557644925	chr2:35034377-35034378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs182059607	chr2:35034378-35034379	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs540039054	chr2:35034413-35034414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs72861936	chr2:35034421-35034422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs376599621	chr2:35034424-35034425	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs13018804	chr2:35034480-35034481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs573642335	chr2:35034521-35034522	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs542738170	chr2:35034556-35034557	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs567337909	chr2:35034644-35034645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562318869	chr2:35034676-35034677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554212362	chr2:35034677-35034678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140346048	chr2:35034681-35034682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539482523	chr2:35034688-35034689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187203859	chr2:35034717-35034718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138438454	chr2:35034720-35034721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375185451	chr2:35034722-35034723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117899730	chr2:35034737-35034738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190818445	chr2:35034760-35034761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182099036	chr2:35034798-35034799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112535948	chr2:35034801-35034802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567088324	chr2:35034804-35034805	Weak transcription 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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:35034800-35035000	Enhancers	Pancreas	Pancrea
5	chr2:35034800-35035200	Enhancers	Gastric	stomach
6	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
7	chr2:35035200-35039400	Weak transcription	Gastric	stomach
8	chr2:35035400-35036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35035400-35036000	Enhancers	Stomach Mucosa	stomach

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