Variant report

Variant	nsv516219
Chromosome Location	chr2:35022419-35033996
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	CTCF	chr2:35028378-35028458	GM13976	blood:	n/a	n/a
2	CTCF	chr2:35028761-35028786	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr2:35031642-35031715	Kidney_OC	kidney:	n/a	n/a
4	FOXA2	chr2:35026638-35027075	A549	lung:	n/a	n/a
5	JUND	chr2:35023816-35023819	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr2:35024477-35024522	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:35026136-35026304	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:35023284-35023446	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr2:35024388-35024852	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr2:35023736-35024111	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425

Variant related genes	Relation type
ENSG00000226994	TF binding region
NAP1L1	miRNA target sites

Extended variants
information (count: 581 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1898667	chr2:35022419-35022420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569702291	chr2:35022425-35022426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13418932	chr2:35022471-35022472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564180275	chr2:35022476-35022477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79749444	chr2:35022564-35022565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566119497	chr2:35022565-35022566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554719251	chr2:35022572-35022573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13393488	chr2:35022583-35022584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554720062	chr2:35022597-35022598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67565342	chr2:35022619-35022620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565514979	chr2:35022627-35022628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537326282	chr2:35022649-35022650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557036369	chr2:35022656-35022657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576901639	chr2:35022723-35022724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577327097	chr2:35022779-35022780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541714877	chr2:35022810-35022811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545734640	chr2:35022848-35022849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559190013	chr2:35022855-35022856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572859492	chr2:35022893-35022894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376573677	chr2:35022896-35022897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541288903	chr2:35022913-35022914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561126842	chr2:35022919-35022920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530363207	chr2:35023021-35023022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148116088	chr2:35023037-35023038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183579969	chr2:35023073-35023074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559591958	chr2:35023094-35023095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532404960	chr2:35023119-35023120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552504090	chr2:35023164-35023165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566061324	chr2:35023168-35023169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77716623	chr2:35023202-35023203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370045377	chr2:35023224-35023225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9941551	chr2:35023231-35023232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141913509	chr2:35023250-35023251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150614810	chr2:35023449-35023450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139069729	chr2:35023474-35023475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577165910	chr2:35023481-35023482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188627155	chr2:35023538-35023539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72795074	chr2:35023550-35023551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572882534	chr2:35023561-35023562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143302345	chr2:35023612-35023613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561190338	chr2:35023642-35023643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147540815	chr2:35023707-35023708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77914900	chr2:35023784-35023785	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563650165	chr2:35023802-35023803	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534715584	chr2:35023812-35023813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115077507	chr2:35023832-35023833	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559682111	chr2:35023875-35023876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528617906	chr2:35023900-35023901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs3925971	chr2:35023963-35023964	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568517507	chr2:35024027-35024028	Weak transcription	TF binding region	1 gene(s)	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35021200-35025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35024600-35025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:35025600-35026000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:35025800-35026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:35029400-35029600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:35031000-35031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:35031400-35031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:35031400-35032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:35031400-35032800	Enhancers	NHEK	skin
12	chr2:35031800-35032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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