Variant report

Variant	nsv520768
Chromosome Location	chr1:102366140-102435130
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	chr1:102419871-102420030	K562	blood:	n/a	chr1:102419972-102419983
2	CEBPB	chr1:102419855-102420123	A549	lung:	n/a	chr1:102419972-102419983
3	CEBPB	chr1:102419807-102420140	IMR90	lung:	n/a	chr1:102419972-102419983
4	CEBPB	chr1:102383891-102384166	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:102419814-102420160	HepG2	liver:	n/a	chr1:102419972-102419983
6	CEBPB	chr1:102371408-102371417	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:102426046-102426246	A549	lung:	n/a	n/a
8	CTCF	chr1:102411540-102411690	BE2_C	brain:	n/a	n/a
9	CTCF	chr1:102403900-102404050	GM12869	blood:	n/a	n/a
10	CTCF	chr1:102403941-102404201	GM12878	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
11	CTCF	chr1:102404049-102404084	GM10266	blood:	n/a	n/a
12	CTCF	chr1:102411560-102411710	BE2_C	brain:	n/a	n/a
13	CTCF	chr1:102411480-102411630	GM12874	blood:	n/a	n/a
14	CTCF	chr1:102411520-102411670	GM12872	blood:	n/a	n/a
15	CTCF	chr1:102411580-102411730	GM12866	blood:	n/a	n/a
16	CTCF	chr1:102411580-102411730	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:102404000-102404150	GM12873	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
18	CTCF	chr1:102403980-102404130	GM12865	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
19	CTCF	chr1:102404014-102404116	GM12878	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
20	CTCF	chr1:102404006-102404127	MCF-7	breast:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
21	CTCF	chr1:102404000-102404150	HMEC	breast:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
22	CTCF	chr1:102403990-102404152	LNCaP	prostate:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
23	CTCF	chr1:102404008-102404120	Pancreas_OC	pancreas:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
24	E2F4	chr1:102392329-102392496	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr1:102425182-102425413	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr1:102381647-102382022	MCF10A-Er-Src	breast:	n/a	chr1:102381912-102381921
27	E2F4	chr1:102434252-102434337	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr1:102423982-102424206	MCF10A-Er-Src	breast:	n/a	n/a
29	EP300	chr1:102372832-102373147	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr1:102372631-102373417	SK-N-SH	brain:	n/a	chr1:102372776-102372785
31	EP300	chr1:102394932-102395168	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr1:102372905-102373127	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr1:102394926-102395230	SK-N-SH_RA	brain:	n/a	n/a
34	FOS	chr1:102425083-102425408	MCF10A-Er-Src	breast:	n/a	chr1:102425233-102425243 chr1:102425234-102425242 chr1:102425233-102425243 chr1:102425302-102425311 chr1:102425235-102425246 chr1:102425233-102425243 chr1:102425233-102425243
35	FOS	chr1:102416882-102417143	MCF10A-Er-Src	breast:	n/a	chr1:102417077-102417086
36	FOS	chr1:102378623-102378869	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:102425125-102425349	MCF10A-Er-Src	breast:	n/a	chr1:102425233-102425243 chr1:102425234-102425242 chr1:102425233-102425243 chr1:102425302-102425311 chr1:102425235-102425246 chr1:102425233-102425243 chr1:102425233-102425243
38	FOS	chr1:102425081-102425389	MCF10A-Er-Src	breast:	n/a	chr1:102425233-102425243 chr1:102425234-102425242 chr1:102425233-102425243 chr1:102425302-102425311 chr1:102425235-102425246 chr1:102425233-102425243 chr1:102425233-102425243
39	FOS	chr1:102378608-102378872	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr1:102378606-102378822	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:102425081-102425423	MCF10A-Er-Src	breast:	n/a	chr1:102425233-102425243 chr1:102425234-102425242 chr1:102425233-102425243 chr1:102425302-102425311 chr1:102425235-102425246 chr1:102425233-102425243 chr1:102425233-102425243
42	FOS	chr1:102378606-102378916	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA1	chr1:102403376-102403670	T-47D	breast:	n/a	n/a
44	FOXP2	chr1:102370947-102371273	SK-N-MC	brain:	n/a	n/a
45	GATA2	chr1:102365812-102366207	SH-SY5Y	brain:	n/a	chr1:102366079-102366096
46	GATA2	chr1:102394507-102395243	SH-SY5Y	brain:	n/a	chr1:102395017-102395027
47	GATA2	chr1:102372766-102373262	SH-SY5Y	brain:	n/a	chr1:102373003-102373010 chr1:102373002-102373012 chr1:102373003-102373010 chr1:102373003-102373012 chr1:102373003-102373010
48	GATA3	chr1:102372697-102373412	SH-SY5Y	brain:	n/a	chr1:102373003-102373010 chr1:102373002-102373012 chr1:102373003-102373010 chr1:102373003-102373012 chr1:102373003-102373010
49	GATA3	chr1:102373678-102373931	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr1:102394893-102395263	SH-SY5Y	brain:	n/a	chr1:102395017-102395027

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102434316..102436694-chr1:102437372..102439039,2	K562	blood:
2	chr1:102310233..102312368-chr1:102385841..102387762,2	MCF-7	breast:

Variant related genes	Relation type
OLFM3	TF binding region

Extended variants
information (count: 1442 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11802288	chr1:102366140-102366141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190604395	chr1:102366170-102366171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573062782	chr1:102366183-102366184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540157414	chr1:102366208-102366209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565048207	chr1:102366231-102366232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374297799	chr1:102366250-102366251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11164329	chr1:102366254-102366255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77506814	chr1:102366309-102366310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111423900	chr1:102366346-102366347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575407059	chr1:102366412-102366413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376252767	chr1:102366420-102366421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546678928	chr1:102366478-102366479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548530667	chr1:102366552-102366553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566775460	chr1:102366558-102366559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183362119	chr1:102366569-102366570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201561077	chr1:102366707-102366708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35607661	chr1:102366709-102366710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189218926	chr1:102366710-102366711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397861427	chr1:102366712-102366713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191945533	chr1:102366726-102366727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368112529	chr1:102366756-102366757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77751536	chr1:102366802-102366803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538049521	chr1:102366896-102366897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182855219	chr1:102366957-102366958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568597839	chr1:102366970-102366971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186628433	chr1:102366971-102366972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141326357	chr1:102366975-102366976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145115789	chr1:102366987-102366988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115726094	chr1:102366998-102366999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527770243	chr1:102367012-102367013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558887748	chr1:102367017-102367018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112227160	chr1:102367028-102367029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538161759	chr1:102367053-102367054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544402730	chr1:102367064-102367065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148368552	chr1:102367089-102367090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530182107	chr1:102367090-102367091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555205742	chr1:102367146-102367147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371855578	chr1:102367157-102367158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541962749	chr1:102367160-102367161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs943556	chr1:102367162-102367163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs527679394	chr1:102367194-102367195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552590202	chr1:102367222-102367223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570789252	chr1:102367223-102367224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531918122	chr1:102367268-102367269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549931707	chr1:102367269-102367270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568316503	chr1:102367274-102367275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568871311	chr1:102367276-102367277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371073380	chr1:102367292-102367293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536302151	chr1:102367313-102367314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191831476	chr1:102367327-102367328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102364800-102367000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:102365200-102370000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:102365200-102370400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:102365200-102370800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:102365200-102370800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:102365200-102373000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:102367000-102368600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:102367600-102369000	Enhancers	Fetal Brain Male	brain
9	chr1:102368600-102370200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:102369000-102370400	Weak transcription	Fetal Brain Male	brain
11	chr1:102370000-102371400	Enhancers	Fetal Lung	lung
12	chr1:102370000-102373200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:102370200-102370600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:102370200-102371800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:102370400-102370600	Enhancers	Fetal Brain Male	brain
16	chr1:102370400-102371400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:102370400-102373600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:102370800-102371600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:102370800-102371800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:102370800-102373400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:102370800-102373600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:102371000-102371200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:102371000-102371200	Enhancers	Fetal Heart	heart
24	chr1:102371000-102371400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:102371000-102371400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:102371000-102371800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:102371000-102373000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:102371200-102371400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:102371200-102372200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:102371200-102373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:102371400-102372400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:102371400-102372400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:102371400-102372800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:102371400-102372800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:102371600-102372800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:102371800-102372200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:102372200-102373000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:102372200-102373400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:102372400-102372600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr1:102372600-102372800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:102372600-102373000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:102372600-102373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:102372800-102373200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:102372800-102373400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:102373000-102373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:102373000-102373200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:102373200-102377000	Weak transcription	Fetal Heart	heart
48	chr1:102373400-102374400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:102373600-102373800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:102374400-102374600	Enhancers	HUES6 Cell Line	embryonic stem cell

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