Variant report

Variant	esv3459524
Chromosome Location	chr2:35078388-35093299
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	chr2:35080062-35080354	HepG2	liver:	n/a	n/a
2	CTCF	chr2:35084833-35084876	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr2:35080300-35080370	Lung_OC	lung:	n/a	n/a
4	POLR2A	chr2:35078999-35079051	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:35080041-35080225	A549	lung:	n/a	n/a
6	POLR2A	chr2:35080028-35080037	A549	lung:	n/a	n/a
7	POLR2A	chr2:35091271-35091477	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:35084416-35084567	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-11	chr2:35078527-35078731	NONHSAT070061

Variant related genes	Relation type
ENSG00000226994	TF binding region

Extended variants
information (count: 170 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372778334	chr2:35078400-35078401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183804913	chr2:35078454-35078455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186720255	chr2:35078485-35078486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142134761	chr2:35078505-35078506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192501323	chr2:35078573-35078574	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs549404175	chr2:35078586-35078587	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs280700	chr2:35078588-35078589	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531627182	chr2:35078609-35078610	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs551435251	chr2:35078629-35078630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs151131804	chr2:35078648-35078649	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs368820358	chr2:35078649-35078650	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs139038660	chr2:35078655-35078656	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs149949403	chr2:35078675-35078676	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567043080	chr2:35078683-35078684	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs113228427	chr2:35078685-35078686	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555746401	chr2:35078693-35078694	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs280701	chr2:35078695-35078696	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111790521	chr2:35078705-35078706	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs114637507	chr2:35078711-35078712	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs146520844	chr2:35078726-35078727	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540494337	chr2:35078741-35078742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72796917	chr2:35078778-35078779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574191248	chr2:35078781-35078782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543185628	chr2:35078811-35078812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183384570	chr2:35078828-35078829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562868137	chr2:35078859-35078860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531638251	chr2:35078872-35078873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141145211	chr2:35078914-35078915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187751414	chr2:35078955-35078956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527452351	chr2:35078995-35078996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547192195	chr2:35079026-35079027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377299997	chr2:35079071-35079072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552508424	chr2:35079072-35079073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191513616	chr2:35079079-35079080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566979815	chr2:35079088-35079089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529728847	chr2:35079112-35079113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs280702	chr2:35079122-35079123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144777518	chr2:35079125-35079126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117318631	chr2:35079131-35079132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146739066	chr2:35079142-35079143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112483689	chr2:35079152-35079153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143291846	chr2:35079183-35079184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13407578	chr2:35079201-35079202	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs62143475	chr2:35079210-35079211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182183063	chr2:35079222-35079223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554397714	chr2:35079250-35079251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574331771	chr2:35079274-35079275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188396829	chr2:35079307-35079308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556730381	chr2:35079334-35079335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576349350	chr2:35079357-35079358	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35057200-35080400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:35074600-35081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:35075600-35078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:35075800-35078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:35076800-35079000	Weak transcription	Pancreas	Pancrea
6	chr2:35078200-35079600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:35078600-35079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:35078600-35079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:35079000-35079200	Enhancers	Pancreas	Pancrea
10	chr2:35093000-35093200	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links