Variant report

Variant	nsv830237
Chromosome Location	chr1:74176269-74352491
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	chr1:74215922-74216258	HepG2	liver:	n/a	chr1:74216238-74216246 chr1:74216093-74216104
2	CEBPB	chr1:74204262-74204508	HepG2	liver:	n/a	chr1:74204410-74204421
3	CEBPB	chr1:74204254-74204531	IMR90	lung:	n/a	chr1:74204410-74204421
4	CEBPB	chr1:74201843-74202147	H1-hESC	embryonic stem cell:	n/a	chr1:74202001-74202012
5	CEBPB	chr1:74204366-74204502	H1-hESC	embryonic stem cell:	n/a	chr1:74204410-74204421
6	CEBPB	chr1:74266022-74266348	HepG2	liver:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
7	CEBPB	chr1:74215959-74216269	A549	lung:	n/a	chr1:74216238-74216246 chr1:74216093-74216104
8	CEBPB	chr1:74330300-74330475	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:74201858-74202137	A549	lung:	n/a	chr1:74202001-74202012
10	CEBPB	chr1:74308428-74308618	K562	blood:	n/a	chr1:74308528-74308539
11	CEBPB	chr1:74291830-74292049	HepG2	liver:	n/a	chr1:74291972-74291983
12	CEBPB	chr1:74266006-74266462	Hela-S3	cervix:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
13	CEBPB	chr1:74204307-74204494	A549	lung:	n/a	chr1:74204410-74204421
14	CEBPB	chr1:74201861-74202178	IMR90	lung:	n/a	chr1:74202001-74202012
15	CEBPB	chr1:74201868-74202170	HepG2	liver:	n/a	chr1:74202001-74202012
16	CEBPB	chr1:74308419-74308616	HepG2	liver:	n/a	chr1:74308528-74308539
17	CEBPB	chr1:74266043-74266386	A549	lung:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
18	CEBPB	chr1:74266112-74266300	A549	lung:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
19	CEBPB	chr1:74294089-74294174	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:74216043-74216073	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr1:74215998-74216178	K562	blood:	n/a	chr1:74216093-74216104
22	CEBPB	chr1:74266015-74266409	MCF-7	breast:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
23	CEBPB	chr1:74265910-74266453	A549	lung:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
24	CEBPB	chr1:74201828-74202135	Hela-S3	cervix:	n/a	chr1:74202001-74202012
25	CEBPB	chr1:74201894-74202150	K562	blood:	n/a	chr1:74202001-74202012
26	CEBPB	chr1:74227218-74227597	A549	lung:	n/a	n/a
27	CEBPB	chr1:74215942-74216274	IMR90	lung:	n/a	chr1:74216238-74216246 chr1:74216093-74216104
28	CEBPB	chr1:74266046-74266422	MCF-7	breast:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
29	CEBPB	chr1:74266041-74266385	IMR90	lung:	n/a	chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266196-74266205 chr1:74266194-74266205 chr1:74266196-74266205 chr1:74266196-74266207
30	CHD1	chr1:74223097-74223151	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr1:74328143-74328200	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr1:74281247-74281256	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:74305740-74305890	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr1:74305700-74305850	HRE	kidney:	n/a	n/a
35	CTCF	chr1:74305720-74305870	GM06990	blood:	n/a	n/a
36	CTCF	chr1:74305720-74305870	HMEC	breast:	n/a	n/a
37	CTCF	chr1:74305729-74305933	A549	lung:	n/a	n/a
38	CTCF	chr1:74305689-74305889	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr1:74305720-74305870	GM12872	blood:	n/a	n/a
40	CTCF	chr1:74305740-74305890	AG04449	skin:	n/a	n/a
41	CTCF	chr1:74305720-74305870	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr1:74305720-74305870	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr1:74199000-74199150	NHEK	skin:	n/a	n/a
44	CTCF	chr1:74305680-74305830	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr1:74305700-74305850	AG04449	skin:	n/a	n/a
46	CTCF	chr1:74305700-74305850	HepG2	liver:	n/a	n/a
47	CTCF	chr1:74305680-74305830	SAEC	small airway:	n/a	n/a
48	CTCF	chr1:74305688-74305910	LNCaP	prostate:	n/a	n/a
49	CTCF	chr1:74305420-74305570	HMEC	breast:	n/a	n/a
50	CTCF	chr1:74305716-74305877	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:74272019..74273829-chr1:74278662..74280224,2	K562	blood:
2	chr1:74272019..74273829-chr1:74278662..74280224,2	K562	blood:
3	chr1:74244519..74246728-chr1:74247954..74249764,2	K562	blood:
4	chr1:74244519..74246728-chr1:74247954..74249764,2	K562	blood:
5	chr1:74203558..74206334-chr1:74548002..74550871,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-2	chr1:74180636-74180897	ENSG00000241626

Variant related genes	Relation type
RNA5SP50	TF binding region
RNU4ATAC8P	TF binding region

Extended variants
information (count: 2068 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2068 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533951671	chr1:74180639-74180640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs150226171	chr1:74180691-74180692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs576948064	chr1:74180698-74180699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs145770148	chr1:74180710-74180711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs571264092	chr1:74180731-74180732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs562777375	chr1:74180750-74180751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576526882	chr1:74180755-74180756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs575022765	chr1:74180760-74180761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs542555987	chr1:74180770-74180771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs541060207	chr1:74180813-74180814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs560625131	chr1:74180828-74180829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs187768553	chr1:74182204-74182205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565964704	chr1:74182224-74182225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192348568	chr1:74182247-74182248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529781116	chr1:74182259-74182260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541994432	chr1:74182270-74182271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560129234	chr1:74182351-74182352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527578322	chr1:74182355-74182356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566522443	chr1:74182393-74182394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77904953	chr1:74182423-74182424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185489047	chr1:74182428-74182429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547039059	chr1:74182443-74182444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116126376	chr1:74182444-74182445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188955065	chr1:74182471-74182472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192114659	chr1:74182502-74182503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184663631	chr1:74182518-74182519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535607317	chr1:74182575-74182576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4633236	chr1:74182583-74182584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566321680	chr1:74182619-74182620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540050699	chr1:74182631-74182632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150526652	chr1:74182638-74182639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576832528	chr1:74182643-74182644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537827705	chr1:74182644-74182645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554577810	chr1:74182687-74182688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555921051	chr1:74182688-74182689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115676834	chr1:74182695-74182696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541607658	chr1:74182719-74182720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560196674	chr1:74182720-74182721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571867392	chr1:74182734-74182735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569569633	chr1:74182744-74182745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545608939	chr1:74182749-74182750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536893376	chr1:74182750-74182751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564010403	chr1:74182756-74182757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531526960	chr1:74182763-74182764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550131628	chr1:74182773-74182774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561978602	chr1:74182784-74182785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571973433	chr1:74182796-74182797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558320144	chr1:74182830-74182831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539385278	chr1:74182861-74182862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147981200	chr1:74182869-74182870	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74182200-74183000	Enhancers	Fetal Brain Male	brain
2	chr1:74183000-74183400	Weak transcription	Fetal Brain Male	brain
3	chr1:74183400-74184000	Enhancers	Fetal Brain Male	brain
4	chr1:74187000-74188200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:74187400-74188200	Enhancers	Fetal Intestine Small	intestine
6	chr1:74187600-74188200	Enhancers	Fetal Intestine Large	intestine
7	chr1:74195800-74196200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:74215400-74216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:74221800-74222200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:74223600-74225000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:74223800-74225000	Enhancers	Brain Germinal Matrix	brain
12	chr1:74224600-74225000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:74225000-74225800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:74225800-74226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:74226000-74231200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:74231000-74231200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:74231000-74232000	Enhancers	Liver	Liver
18	chr1:74231200-74231600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:74231200-74232000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:74231600-74232000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:74232000-74232400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:74232400-74233000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:74241200-74242200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:74242200-74245000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:74245000-74245200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr1:74246600-74246800	Enhancers	A549	lung
27	chr1:74246800-74247200	Flanking Active TSS	A549	lung
28	chr1:74246800-74247400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:74247200-74247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:74247200-74247600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:74247200-74248400	Enhancers	A549	lung
32	chr1:74247400-74248400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:74247600-74248600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:74248400-74248600	Flanking Active TSS	A549	lung
35	chr1:74248400-74249400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:74248600-74248800	Enhancers	A549	lung
37	chr1:74248600-74249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:74248600-74250000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:74248800-74249000	Flanking Active TSS	A549	lung
40	chr1:74249000-74249200	Enhancers	A549	lung
41	chr1:74249200-74249600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:74249200-74249600	Enhancers	Fetal Muscle Leg	muscle
43	chr1:74249200-74249600	Enhancers	Fetal Stomach	stomach
44	chr1:74249400-74255600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:74249600-74250400	Enhancers	Fetal Brain Female	brain
46	chr1:74249600-74255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:74255400-74257400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:74255600-74256200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:74255600-74256200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:74259800-74260200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

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