Variant report

Variant	nsv977156
Chromosome Location	chr12:45320347-45324286
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	chr12:45322893-45322920	GM13977	blood:	n/a	n/a
2	GATA3	chr12:45321323-45321443	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr12:45321286-45321311	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:45320427-45320484	MCF10A-Er-Src	breast:	n/a	n/a
5	SMC3	chr12:45323822-45323851	GM12878	blood:	n/a	n/a
6	STAT3	chr12:45323230-45323551	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr12:45320681-45320783	MCF10A-Er-Src	breast:	n/a	n/a
8	ZKSCAN1	chr12:45323465-45323625	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45168298..45169262-chr12:45324213..45325460,5	MCF-7	breast:
2	chr12:45168329..45169564-chr12:45323968..45325348,4	K562	blood:

Variant related genes	Relation type
NELL2	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565516888	chr12:45320435-45320436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574057974	chr12:45322605-45322606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541503262	chr12:45322612-45322613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559329993	chr12:45322621-45322622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191389934	chr12:45322626-45322627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142635995	chr12:45322629-45322630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563589721	chr12:45322646-45322647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530798180	chr12:45322669-45322670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549003010	chr12:45322711-45322712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567214828	chr12:45322748-45322749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150981680	chr12:45322795-45322796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7975618	chr12:45322838-45322839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73090909	chr12:45322842-45322843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566172133	chr12:45322848-45322849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530502545	chr12:45322858-45322859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552231890	chr12:45322914-45322915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17598279	chr12:45322915-45322916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs444468	chr12:45322922-45322923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373785554	chr12:45322929-45322930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576329213	chr12:45322943-45322944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537304535	chr12:45322951-45322952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184138190	chr12:45322963-45322964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573972246	chr12:45322967-45322968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541193934	chr12:45322996-45322997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543217568	chr12:45323031-45323032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553414981	chr12:45323064-45323065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546734516	chr12:45323124-45323125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578118585	chr12:45323139-45323140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545245083	chr12:45323145-45323146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568168436	chr12:45323149-45323150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376992795	chr12:45323151-45323152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530835878	chr12:45323173-45323174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535690903	chr12:45323316-45323317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73090910	chr12:45323366-45323367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540525895	chr12:45323368-45323369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369557340	chr12:45323406-45323407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78442934	chr12:45323449-45323450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77923282	chr12:45323497-45323498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs385152	chr12:45323521-45323522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs395519	chr12:45323530-45323531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371403806	chr12:45323531-45323532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548386189	chr12:45323581-45323582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373268881	chr12:45323695-45323696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569903983	chr12:45323731-45323732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569850942	chr12:45323752-45323753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73284986	chr12:45323813-45323814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189070029	chr12:45323849-45323850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193045850	chr12:45323874-45323875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537018028	chr12:45323901-45323902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558542315	chr12:45323903-45323904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45322600-45325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:45322800-45323800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:45323000-45323600	Enhancers	Brain Germinal Matrix	brain
4	chr12:45323000-45323800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:45323000-45323800	Enhancers	Fetal Brain Female	brain
6	chr12:45323200-45323400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45323200-45323600	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:45323400-45324200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45323600-45325000	Enhancers	Fetal Brain Male	brain
10	chr12:45323800-45324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:45323800-45324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:45324200-45324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:45324200-45325000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:45324200-45325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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