Variant report

Variant	esv3495264
Chromosome Location	chr2:34964998-34968296
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	TBP	chr2:34965570-34965628	GM12878	blood:	n/a	n/a
2	ZNF384	chr2:34965362-34965372	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000232153	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs183494042	chr2:34965008-34965009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555109634	chr2:34965105-34965106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187080568	chr2:34965118-34965119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544103264	chr2:34965137-34965138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140252603	chr2:34965147-34965148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200236383	chr2:34965167-34965168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116625636	chr2:34965191-34965192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145523047	chr2:34965218-34965219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375889207	chr2:34965227-34965228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368205436	chr2:34965242-34965243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551706660	chr2:34965252-34965253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559614865	chr2:34965255-34965256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528553534	chr2:34965324-34965325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548122345	chr2:34965346-34965347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561899289	chr2:34965395-34965396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530760553	chr2:34965426-34965427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550452313	chr2:34965427-34965428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151015791	chr2:34965487-34965488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539048283	chr2:34965529-34965530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35431235	chr2:34965538-34965539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550888479	chr2:34965606-34965607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140804282	chr2:34965657-34965658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150142302	chr2:34965662-34965663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535517872	chr2:34965672-34965673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201879780	chr2:34965725-34965726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145795221	chr2:34965726-34965727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10639463	chr2:34965727-34965728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36086555	chr2:34965728-34965729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4016414	chr2:34965729-34965730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201442389	chr2:34965730-34965731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199516175	chr2:34965731-34965732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71449529	chr2:34965733-34965734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149776382	chr2:34965744-34965745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574970678	chr2:34965784-34965785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562403151	chr2:34965791-34965792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537779137	chr2:34965833-34965834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138610932	chr2:34965837-34965838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577587129	chr2:34965848-34965849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546237501	chr2:34965868-34965869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559686039	chr2:34965877-34965878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113459734	chr2:34965922-34965923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369852607	chr2:34965928-34965929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542306280	chr2:34965971-34965972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184443962	chr2:34965980-34965981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13028493	chr2:34965984-34965985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530628168	chr2:34966010-34966011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3108094	chr2:34966016-34966017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189929717	chr2:34966045-34966046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78929720	chr2:34966046-34966047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533022505	chr2:34966062-34966063	Enhancers Weak transcription	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34961400-34967400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:34961600-34966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34966000-34966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34967400-34968000	Enhancers	HUES6 Cell Line	embryonic stem cell

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