Variant report

Variant	esv2758953
Chromosome Location	chr1:102372339-102417093
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	chr1:102383891-102384166	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:102411520-102411670	GM12872	blood:	n/a	n/a
3	CTCF	chr1:102403990-102404152	LNCaP	prostate:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
4	CTCF	chr1:102404000-102404150	GM12873	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
5	CTCF	chr1:102404000-102404150	HMEC	breast:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
6	CTCF	chr1:102404049-102404084	GM10266	blood:	n/a	n/a
7	CTCF	chr1:102411480-102411630	GM12874	blood:	n/a	n/a
8	CTCF	chr1:102403900-102404050	GM12869	blood:	n/a	n/a
9	CTCF	chr1:102404008-102404120	Pancreas_OC	pancreas:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
10	CTCF	chr1:102404006-102404127	MCF-7	breast:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
11	CTCF	chr1:102411540-102411690	BE2_C	brain:	n/a	n/a
12	CTCF	chr1:102403980-102404130	GM12865	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
13	CTCF	chr1:102411580-102411730	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:102403941-102404201	GM12878	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
15	CTCF	chr1:102404014-102404116	GM12878	blood:	n/a	chr1:102404072-102404093 chr1:102404070-102404088
16	CTCF	chr1:102411560-102411710	BE2_C	brain:	n/a	n/a
17	CTCF	chr1:102411580-102411730	GM12866	blood:	n/a	n/a
18	E2F4	chr1:102381647-102382022	MCF10A-Er-Src	breast:	n/a	chr1:102381912-102381921
19	E2F4	chr1:102392329-102392496	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr1:102394932-102395168	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr1:102394926-102395230	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr1:102372905-102373127	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr1:102372832-102373147	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr1:102372631-102373417	SK-N-SH	brain:	n/a	chr1:102372776-102372785
25	FOS	chr1:102378623-102378869	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:102378606-102378822	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:102378606-102378916	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:102378608-102378872	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:102416882-102417143	MCF10A-Er-Src	breast:	n/a	chr1:102417077-102417086
30	FOXA1	chr1:102403376-102403670	T-47D	breast:	n/a	n/a
31	GATA2	chr1:102394507-102395243	SH-SY5Y	brain:	n/a	chr1:102395017-102395027
32	GATA2	chr1:102372766-102373262	SH-SY5Y	brain:	n/a	chr1:102373003-102373010 chr1:102373002-102373012 chr1:102373003-102373010 chr1:102373003-102373012 chr1:102373003-102373010
33	GATA3	chr1:102394893-102395263	SH-SY5Y	brain:	n/a	chr1:102395017-102395027
34	GATA3	chr1:102372898-102373325	SK-N-SH	brain:	n/a	chr1:102373003-102373010 chr1:102373002-102373012 chr1:102373003-102373010 chr1:102373003-102373012 chr1:102373003-102373010
35	GATA3	chr1:102373678-102373931	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr1:102390334-102390389	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr1:102372697-102373412	SH-SY5Y	brain:	n/a	chr1:102373003-102373010 chr1:102373002-102373012 chr1:102373003-102373010 chr1:102373003-102373012 chr1:102373003-102373010
38	JUN	chr1:102383536-102383736	K562	blood:	n/a	n/a
39	JUND	chr1:102373728-102373769	HepG2	liver:	n/a	chr1:102373741-102373752
40	JUND	chr1:102411686-102411783	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAFK	chr1:102385607-102385693	HepG2	liver:	n/a	n/a
42	MAFK	chr1:102399731-102399766	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr1:102410636-102410915	HepG2	liver:	n/a	n/a
44	MAFK	chr1:102415679-102415699	Hela-S3	cervix:	n/a	n/a
45	MAFK	chr1:102386091-102386291	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr1:102410751-102410906	HepG2	liver:	n/a	n/a
47	MAFK	chr1:102393829-102393967	HepG2	liver:	n/a	n/a
48	MAFK	chr1:102385436-102385695	HepG2	liver:	n/a	chr1:102385578-102385593
49	MXI1	chr1:102372642-102373363	SK-N-SH	brain:	n/a	n/a
50	MXI1	chr1:102399108-102399134	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102310233..102312368-chr1:102385841..102387762,2	MCF-7	breast:

Variant related genes	Relation type
OLFM3	TF binding region

Extended variants
information (count: 824 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:824 , 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	rs1998978	chr1:102372339-102372340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562105985	chr1:102372349-102372350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369051764	chr1:102372359-102372360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187321459	chr1:102372403-102372404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192705849	chr1:102372435-102372436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528266729	chr1:102372480-102372481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183701695	chr1:102372540-102372541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376388414	chr1:102372549-102372550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61808282	chr1:102372552-102372553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532665986	chr1:102372565-102372566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550964141	chr1:102372598-102372599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569160743	chr1:102372615-102372616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547735281	chr1:102372624-102372625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35165911	chr1:102372635-102372636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373775021	chr1:102372648-102372649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34226223	chr1:102372677-102372678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143139146	chr1:102372680-102372681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150767668	chr1:102372752-102372753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576968802	chr1:102372825-102372826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567200861	chr1:102372867-102372868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138056652	chr1:102372916-102372917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72729697	chr1:102372942-102372943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372465706	chr1:102372946-102372947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570976216	chr1:102372948-102372949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527335254	chr1:102372965-102372966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74317799	chr1:102373084-102373085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17125708	chr1:102373093-102373094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193270787	chr1:102373172-102373173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542650390	chr1:102373193-102373194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12564023	chr1:102373256-102373257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573206073	chr1:102373294-102373295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369513297	chr1:102373329-102373330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540393997	chr1:102373349-102373350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184795756	chr1:102373380-102373381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541398470	chr1:102373426-102373427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570247352	chr1:102373432-102373433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34006712	chr1:102373435-102373436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200765916	chr1:102373436-102373437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397861130	chr1:102373440-102373441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375195477	chr1:102373470-102373471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544726454	chr1:102373485-102373486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563039592	chr1:102373497-102373498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549971375	chr1:102373499-102373500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561363684	chr1:102373532-102373533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17125714	chr1:102373567-102373568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10782858	chr1:102373603-102373604	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527995619	chr1:102373641-102373642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552325160	chr1:102373660-102373661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189255958	chr1:102373681-102373682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538308210	chr1:102373686-102373687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102365200-102373000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:102370000-102373200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:102370400-102373600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:102370800-102373400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:102370800-102373600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:102371000-102373000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:102371200-102373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:102371400-102372400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:102371400-102372400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:102371400-102372800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:102371400-102372800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:102371600-102372800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:102372200-102373000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:102372200-102373400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:102372400-102372600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:102372600-102372800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:102372600-102373000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:102372600-102373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:102372800-102373200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:102372800-102373400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:102373000-102373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:102373000-102373200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:102373200-102377000	Weak transcription	Fetal Heart	heart
24	chr1:102373400-102374400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:102373600-102373800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:102374400-102374600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:102377000-102378000	Enhancers	Fetal Heart	heart
28	chr1:102378000-102379200	Weak transcription	Fetal Heart	heart
29	chr1:102379000-102379200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:102379200-102380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:102379200-102382000	Enhancers	Fetal Heart	heart
32	chr1:102380200-102380400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:102380200-102382000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:102380600-102385600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:102381400-102382000	Enhancers	Brain Germinal Matrix	brain
36	chr1:102384000-102384400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:102385200-102385600	Enhancers	Fetal Intestine Large	intestine
38	chr1:102385600-102386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:102385800-102386600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:102386000-102386400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:102386000-102386600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:102394600-102394800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:102394800-102399000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:102395000-102395200	Enhancers	Fetal Intestine Large	intestine
45	chr1:102395200-102396800	Weak transcription	Fetal Intestine Large	intestine
46	chr1:102396800-102397600	Enhancers	Fetal Intestine Large	intestine
47	chr1:102396800-102397600	Enhancers	Fetal Intestine Small	intestine
48	chr1:102399000-102399800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:102410600-102411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:102410800-102411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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