Variant report

Variant	nsv979004
Chromosome Location	chr2:50092805-50120656
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	chr2:50095166-50095367	HepG2	liver:	n/a	chr2:50095275-50095286
2	CEBPB	chr2:50100081-50100265	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:50104530-50104585	Lung_OC	lung:	n/a	n/a
4	CTCF	chr2:50115268-50115334	GM10266	blood:	n/a	n/a
5	E2F4	chr2:50098956-50099347	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr2:50116895-50117124	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA2	chr2:50109459-50109917	A549	lung:	n/a	n/a
8	GATA3	chr2:50116584-50116693	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr2:50107987-50108096	SH-SY5Y	brain:	n/a	n/a
10	JUN	chr2:50106199-50106394	HepG2	liver:	n/a	chr2:50106313-50106326
11	JUND	chr2:50106177-50106495	HepG2	liver:	n/a	chr2:50106334-50106345
12	KAP1	chr2:50107667-50107988	HEK293	kidney:	n/a	n/a
13	MAFK	chr2:50098757-50098816	HepG2	liver:	n/a	n/a
14	MAFK	chr2:50100800-50101034	HepG2	liver:	n/a	n/a
15	MAX	chr2:50115381-50115426	NB4	blood:	n/a	n/a
16	POLR2A	chr2:50100183-50100222	A549	lung:	n/a	n/a
17	POLR2A	chr2:50109995-50110029	A549	lung:	n/a	n/a
18	POLR2A	chr2:50110033-50110173	A549	lung:	n/a	n/a
19	POLR2A	chr2:50109178-50109245	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:50109227-50109319	A549	lung:	n/a	n/a
21	POLR2A	chr2:50119168-50119361	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:50095539-50095743	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:50113515-50113656	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr2:50111492-50111605	PANC-1	pancreas:	n/a	n/a
25	REST	chr2:50113499-50113677	H1-hESC	embryonic stem cell:	n/a	n/a
26	SETDB1	chr2:50107712-50108095	U2OS	brain:	n/a	n/a
27	SETDB1	chr2:50095158-50095528	U2OS	brain:	n/a	n/a
28	TCF7L2	chr2:50093038-50093177	HepG2	liver:	n/a	n/a
29	ZBTB33	chr2:50113487-50113666	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50079020..50080937-chr2:50095314..50097003,2	K562	blood:

Variant related genes	Relation type
RPL7P13	TF binding region
ENSG00000212580	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111902943	chr2:50100813-50100814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4461296	chr2:50100835-50100836	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1592729	chr2:50100865-50100866	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185115966	chr2:50100905-50100906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571450269	chr2:50100953-50100954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534124387	chr2:50100990-50100991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147816819	chr2:50104534-50104535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141364005	chr2:50104548-50104549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187250958	chr2:50104557-50104558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541390254	chr2:50104580-50104581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs567654683	chr2:50107215-50107216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140860106	chr2:50107216-50107217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189192789	chr2:50107219-50107220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574784776	chr2:50107222-50107223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193057418	chr2:50107223-50107224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539368909	chr2:50107242-50107243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546732066	chr2:50107260-50107261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566342304	chr2:50107266-50107267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535878199	chr2:50107273-50107274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554503359	chr2:50107287-50107288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150170627	chr2:50107319-50107320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544130634	chr2:50107339-50107340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558365192	chr2:50107380-50107381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115283465	chr2:50107429-50107430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540801397	chr2:50107442-50107443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559240923	chr2:50107481-50107482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373810536	chr2:50107551-50107552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146778101	chr2:50107591-50107592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114041860	chr2:50107605-50107606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375015979	chr2:50107609-50107610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140537106	chr2:50107616-50107617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568232897	chr2:50107630-50107631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575967089	chr2:50107642-50107643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184538552	chr2:50107715-50107716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565349050	chr2:50107719-50107720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145687375	chr2:50107720-50107721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547969833	chr2:50107744-50107745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138371434	chr2:50107788-50107789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182787486	chr2:50115801-50115802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72884138	chr2:50115816-50115817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529217617	chr2:50115838-50115839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550684634	chr2:50115849-50115850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372580293	chr2:50115850-50115851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188112645	chr2:50115860-50115861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201222974	chr2:50115897-50115898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568965541	chr2:50115926-50115927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539655269	chr2:50115928-50115929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192867159	chr2:50115931-50115932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548152373	chr2:50115961-50115962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567098047	chr2:50115972-50115973	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50107200-50107800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:50115800-50117800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:50116200-50117800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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