Variant report

Variant	nsv430980
Chromosome Location	chr2:49202449-49227449
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	chr2:49221268-49221566	IMR90	lung:	n/a	chr2:49221430-49221441 chr2:49221432-49221443
2	CEBPB	chr2:49221271-49221604	A549	lung:	n/a	chr2:49221430-49221441 chr2:49221432-49221443
3	CEBPB	chr2:49214105-49214319	HepG2	liver:	n/a	chr2:49214256-49214267
4	CEBPB	chr2:49214096-49214408	IMR90	lung:	n/a	chr2:49214256-49214267
5	CEBPB	chr2:49221253-49221611	HepG2	liver:	n/a	chr2:49221430-49221441 chr2:49221432-49221443
6	CUX1	chr2:49220764-49220825	GM12878	blood:	n/a	n/a
7	CUX1	chr2:49219911-49219918	GM12878	blood:	n/a	n/a
8	EBF1	chr2:49220799-49220972	GM12878	blood:	n/a	n/a
9	EBF1	chr2:49219631-49219873	GM12878	blood:	n/a	chr2:49219785-49219796
10	EBF1	chr2:49217854-49218342	GM12878	blood:	n/a	chr2:49218162-49218175
11	EP300	chr2:49205270-49205553	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr2:49218850-49219190	GM12878	blood:	n/a	chr2:49219157-49219171 chr2:49219158-49219172 chr2:49219109-49219123
13	FOS	chr2:49214044-49214450	MCF10A-Er-Src	breast:	n/a	chr2:49214280-49214289 chr2:49214281-49214288 chr2:49214281-49214289
14	FOS	chr2:49221015-49221617	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:49214093-49214450	MCF10A-Er-Src	breast:	n/a	chr2:49214280-49214289 chr2:49214281-49214288 chr2:49214281-49214289
16	FOS	chr2:49220992-49221626	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:49221127-49221526	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:49213881-49214447	MCF10A-Er-Src	breast:	n/a	chr2:49214280-49214289 chr2:49214281-49214288 chr2:49214281-49214289
19	FOS	chr2:49214088-49214429	MCF10A-Er-Src	breast:	n/a	chr2:49214280-49214289 chr2:49214281-49214288 chr2:49214281-49214289
20	FOS	chr2:49221035-49221596	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA2	chr2:49205287-49206364	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr2:49223519-49223594	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr2:49205285-49205716	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr2:49219802-49219949	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr2:49205349-49205714	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr2:49205267-49205687	SK-N-SH	brain:	n/a	n/a
27	IRF1	chr2:49222157-49222176	K562	blood:	n/a	n/a
28	JUND	chr2:49223579-49223897	HepG2	liver:	n/a	n/a
29	MAFF	chr2:49225632-49225963	HepG2	liver:	n/a	chr2:49225774-49225792
30	MAFK	chr2:49225608-49225968	IMR90	lung:	n/a	chr2:49225776-49225791
31	MAFK	chr2:49220254-49220491	HepG2	liver:	n/a	n/a
32	MAFK	chr2:49225612-49225951	HepG2	liver:	n/a	chr2:49225776-49225791
33	MAFK	chr2:49220263-49220473	HepG2	liver:	n/a	n/a
34	MAFK	chr2:49225605-49225967	HepG2	liver:	n/a	chr2:49225776-49225791
35	MAFK	chr2:49225638-49225840	Hela-S3	cervix:	n/a	chr2:49225776-49225791
36	MAFK	chr2:49225639-49225954	H1-hESC	embryonic stem cell:	n/a	chr2:49225776-49225791
37	MYC	chr2:49221071-49221501	MCF10A-Er-Src	breast:	n/a	n/a
38	NFYA	chr2:49205827-49206030	K562	blood:	n/a	n/a
39	POLR2A	chr2:49205255-49205704	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr2:49226913-49227113	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:49205180-49205726	H1-neurons	neurons:	n/a	n/a
42	RUNX3	chr2:49218899-49219205	GM12878	blood:	n/a	n/a
43	SPI1	chr2:49212097-49212456	GM12891	blood:	n/a	chr2:49212216-49212229 chr2:49212219-49212226 chr2:49212215-49212228
44	SPI1	chr2:49220631-49221017	GM12891	blood:	n/a	n/a
45	SPI1	chr2:49212086-49212422	GM12891	blood:	n/a	chr2:49212216-49212229 chr2:49212219-49212226 chr2:49212215-49212228
46	SPI1	chr2:49218877-49219284	HL-60	blood:	n/a	chr2:49219111-49219118 chr2:49219108-49219121
47	SPI1	chr2:49218585-49219235	GM12891	blood:	n/a	chr2:49219111-49219118 chr2:49219108-49219121
48	SPI1	chr2:49218519-49219273	GM12891	blood:	n/a	chr2:49219111-49219118 chr2:49219108-49219121
49	SPI1	chr2:49218993-49219227	GM12878	blood:	n/a	chr2:49219111-49219118 chr2:49219108-49219121
50	SPI1	chr2:49219002-49219192	GM12878	blood:	n/a	chr2:49219111-49219118 chr2:49219108-49219121

No.	Distal block	Cell Line	Cell type
1	chr2:49216778..49218351-chr2:49224131..49226334,2	MCF-7	breast:
2	chr2:49226004..49228152-chr2:49232900..49234588,2	MCF-7	breast:
3	chr2:49209751..49211732-chr2:49248932..49250816,2	K562	blood:
4	chr2:49199332..49202324-chr2:49209255..49211522,2	K562	blood:

Variant related genes	Relation type
FSHR	TF binding region
ENSG00000170820	chromatin interactions

Extended variants
information (count: 823 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192259598	chr2:49208665-49208666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568924024	chr2:49208666-49208667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543780761	chr2:49208678-49208679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149956770	chr2:49208690-49208691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540483836	chr2:49208694-49208695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145096168	chr2:49208724-49208725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573766048	chr2:49208739-49208740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182965540	chr2:49208742-49208743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562243486	chr2:49208755-49208756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532820034	chr2:49208762-49208763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187642655	chr2:49208765-49208766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140672770	chr2:49208772-49208773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192830822	chr2:49208798-49208799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371532621	chr2:49208820-49208821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532966255	chr2:49208843-49208844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551361235	chr2:49208856-49208857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567897360	chr2:49208867-49208868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115481409	chr2:49208891-49208892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144636569	chr2:49208915-49208916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571872040	chr2:49208930-49208931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372439477	chr2:49208945-49208946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184779825	chr2:49208953-49208954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566035498	chr2:49208957-49208958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535311252	chr2:49208983-49208984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536276190	chr2:49209008-49209009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555628110	chr2:49209011-49209012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72539625	chr2:49209034-49209035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544105807	chr2:49209035-49209036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555903410	chr2:49209040-49209041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111786988	chr2:49209061-49209062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577431545	chr2:49209096-49209097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372227568	chr2:49209101-49209102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1007540	chr2:49209108-49209109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545288686	chr2:49209113-49209114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374074612	chr2:49209135-49209136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527265477	chr2:49209207-49209208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368446379	chr2:49209213-49209214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80090637	chr2:49209221-49209222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375206500	chr2:49209231-49209232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561622998	chr2:49209239-49209240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531863660	chr2:49209297-49209298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550502573	chr2:49209303-49209304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559167562	chr2:49209304-49209305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535620822	chr2:49209323-49209324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367770009	chr2:49209335-49209336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34025238	chr2:49209421-49209422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113741040	chr2:49209451-49209452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74679209	chr2:49209486-49209487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371300270	chr2:49209491-49209492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147896475	chr2:49209524-49209525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49208600-49215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:49210000-49210400	Enhancers	Brain Germinal Matrix	brain
3	chr2:49210400-49211400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:49210800-49211200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:49217400-49218800	Enhancers	GM12878-XiMat	blood
6	chr2:49218200-49220800	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:49218800-49219200	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:49219200-49220800	Enhancers	Primary B cells from cord blood	blood
9	chr2:49219200-49221600	Enhancers	GM12878-XiMat	blood
10	chr2:49221400-49222000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:49222000-49227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:49226800-49227200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:49227200-49227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:49227200-49227800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:49227400-49228000	Enhancers	Fetal Lung	lung
16	chr2:49227400-49228400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:49227400-49228600	Enhancers	Stomach Mucosa	stomach

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