Variant report

Variant	nsv978990
Chromosome Location	chr2:31513125-31517502
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	MAFK	chr2:31513449-31513467	IMR90	lung:	n/a	n/a
2	SPI1	chr2:31512956-31513393	HL-60	blood:	n/a	chr2:31513184-31513193 chr2:31513182-31513195

Variant related genes	Relation type
ENSG00000213620	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs182815862	chr2:31513130-31513131	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559597923	chr2:31513150-31513151	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544489699	chr2:31513166-31513167	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs564641658	chr2:31513199-31513200	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187190801	chr2:31513203-31513204	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs59556133	chr2:31513211-31513212	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34438055	chr2:31513282-31513283	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190536787	chr2:31513307-31513308	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529399512	chr2:31513322-31513323	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543192105	chr2:31513449-31513450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4619655	chr2:31513450-31513451	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
12	rs374285829	chr2:31513519-31513520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183096357	chr2:31513544-31513545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138771730	chr2:31513550-31513551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563802233	chr2:31513560-31513561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532896937	chr2:31513630-31513631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76439816	chr2:31513643-31513644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187630716	chr2:31513677-31513678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569038265	chr2:31513681-31513682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555075852	chr2:31513710-31513711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569075782	chr2:31513805-31513806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368665946	chr2:31513806-31513807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144997828	chr2:31513807-31513808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35410947	chr2:31513822-31513823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377477955	chr2:31513860-31513861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558384731	chr2:31513861-31513862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193059378	chr2:31513890-31513891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77675188	chr2:31513891-31513892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531136898	chr2:31513900-31513901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539273520	chr2:31513910-31513911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571075951	chr2:31513927-31513928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574113405	chr2:31513971-31513972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543107323	chr2:31513972-31513973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149384563	chr2:31513980-31513981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530675320	chr2:31513981-31513982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544083469	chr2:31514039-31514040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34546900	chr2:31514135-31514136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564346657	chr2:31514180-31514181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533072689	chr2:31514185-31514186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115174976	chr2:31514196-31514197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78718501	chr2:31514202-31514203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201570723	chr2:31514205-31514206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144777338	chr2:31514219-31514220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568615512	chr2:31514253-31514254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185880429	chr2:31514285-31514286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558062887	chr2:31514297-31514298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571859971	chr2:31514301-31514302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187569473	chr2:31514361-31514362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554485060	chr2:31514425-31514426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574052923	chr2:31514426-31514427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31509200-31522000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31510800-31516200	Weak transcription	Right Ventricle	heart
3	chr2:31510800-31516600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:31511000-31516800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:31511000-31517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:31511200-31519000	Weak transcription	NH-A	brain
7	chr2:31511200-31523200	Weak transcription	HMEC	breast
8	chr2:31511400-31516000	Weak transcription	Esophagus	oesophagus
9	chr2:31511400-31516400	Weak transcription	Aorta	Aorta
10	chr2:31511400-31519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:31511600-31516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:31511600-31516800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:31511600-31517200	Weak transcription	Fetal Heart	heart
14	chr2:31511600-31518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:31511600-31519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:31512800-31518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:31513000-31513200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:31513200-31513400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:31516000-31517000	Enhancers	Esophagus	oesophagus
20	chr2:31516200-31516400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:31516200-31516400	Enhancers	Lung	lung
22	chr2:31516200-31521000	Enhancers	Right Ventricle	heart
23	chr2:31516200-31521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:31516400-31518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:31516400-31521000	Enhancers	Aorta	Aorta
26	chr2:31516600-31517000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:31516600-31519200	Weak transcription	Lung	lung
28	chr2:31516800-31517200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:31516800-31517400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:31516800-31517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:31516800-31517600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:31516800-31517600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:31516800-31517800	Enhancers	NHEK	skin
34	chr2:31516800-31518200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:31517000-31517400	Enhancers	GM12878-XiMat	blood
36	chr2:31517000-31517600	Weak transcription	Esophagus	oesophagus
37	chr2:31517000-31517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:31517000-31517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:31517000-31520800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:31517200-31518400	Enhancers	Fetal Heart	heart
41	chr2:31517200-31522200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:31517400-31522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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