Variant report

Variant	nsv537842
Chromosome Location	chr5:104130854-104249987
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	BACH1	chr5:104223199-104223207	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr5:104246667-104246983	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:104195089-104195447	ECC-1	luminal epithelium:	n/a	chr5:104195252-104195263
4	CEBPB	chr5:104136188-104136569	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
5	CEBPB	chr5:104136258-104136502	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
6	CEBPB	chr5:104136181-104136567	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
7	CEBPB	chr5:104195064-104195524	A549	lung:	n/a	chr5:104195252-104195263
8	CEBPB	chr5:104136225-104136497	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
9	CEBPB	chr5:104195099-104195433	H1-hESC	embryonic stem cell:	n/a	chr5:104195252-104195263
10	CEBPB	chr5:104136228-104136514	Hela-S3	cervix:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
11	CEBPB	chr5:104136136-104136548	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
12	CEBPB	chr5:104195083-104195431	A549	lung:	n/a	chr5:104195252-104195263
13	CEBPB	chr5:104195098-104195441	HepG2	liver:	n/a	chr5:104195252-104195263
14	CEBPB	chr5:104136123-104136646	HCT-116	colon:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
15	CEBPB	chr5:104136061-104136624	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
16	CEBPB	chr5:104136209-104136550	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
17	CEBPB	chr5:104246629-104247018	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:104195080-104195455	K562	blood:	n/a	chr5:104195252-104195263
19	CEBPB	chr5:104195095-104195389	MCF-7	breast:	n/a	chr5:104195252-104195263
20	CEBPB	chr5:104171648-104171720	HepG2	liver:	n/a	n/a
21	CEBPB	chr5:104136190-104136565	H1-hESC	embryonic stem cell:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
22	CEBPB	chr5:104177422-104177540	K562	blood:	n/a	n/a
23	CEBPB	chr5:104136186-104136537	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
24	CEBPB	chr5:104195172-104195487	MCF-7	breast:	n/a	chr5:104195252-104195263
25	CEBPB	chr5:104195073-104195449	IMR90	lung:	n/a	chr5:104195252-104195263
26	CEBPB	chr5:104136224-104136540	IMR90	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
27	CEBPB	chr5:104195078-104195490	Hela-S3	cervix:	n/a	chr5:104195252-104195263
28	CEBPB	chr5:104136178-104136571	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
29	CEBPB	chr5:104136255-104136426	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
30	CEBPB	chr5:104136032-104136689	MCF-7	breast:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
31	CEBPB	chr5:104136117-104136616	MCF-7	breast:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
32	CEBPB	chr5:104195135-104195333	K562	blood:	n/a	chr5:104195252-104195263
33	CEBPD	chr5:104136280-104136473	HepG2	liver:	n/a	n/a
34	CEBPD	chr5:104179642-104179910	K562	blood:	n/a	n/a
35	CHD2	chr5:104246611-104246974	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:104136260-104136410	AG10803	skin:	n/a	n/a
37	CTCF	chr5:104136320-104136470	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr5:104249560-104249710	BE2_C	brain:	n/a	n/a
39	CTCF	chr5:104136220-104136370	GM12875	blood:	n/a	n/a
40	CTCF	chr5:104136280-104136430	GM12866	blood:	n/a	n/a
41	CTCF	chr5:104136300-104136450	RPTEC	kidney:	n/a	n/a
42	CTCF	chr5:104136260-104136410	HMEC	breast:	n/a	n/a
43	CTCF	chr5:104136260-104136410	AG04450	lung:	n/a	n/a
44	CTCF	chr5:104136300-104136450	GM12878	blood:	n/a	n/a
45	CTCF	chr5:104136243-104136423	NHEK	skin:	n/a	n/a
46	CTCF	chr5:104234611-104234636	Lung_OC	lung:	n/a	n/a
47	CTCF	chr5:104136240-104136390	GM12869	blood:	n/a	n/a
48	CTCF	chr5:104136300-104136450	NHEK	skin:	n/a	n/a
49	CTCF	chr5:104136206-104136493	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:104136300-104136450	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
2	chr17:57939158..57941470-chr5:104246724..104248724,2	MCF-7	breast:
3	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
4	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
5	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
6	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
7	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
8	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
9	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
10	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
11	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
12	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
13	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
2	lnc-NUDT12-13	chr5:104137254-104137422	l_2988_chr5:104103131-104137422_testes
3	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
4	lnc-C5orf30-3	chr5:104135007-104135473	ENSG00000253776
5	lnc-NUDT12-6	chr5:104246363-104246434	ENSG00000251574

Variant related genes	Relation type
ENSG00000251574	TF binding region

Extended variants
information (count: 1683 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1683 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559825500	chr5:104130860-104130861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528181524	chr5:104130973-104130974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61320938	chr5:104130991-104130992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376107980	chr5:104131034-104131035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185862707	chr5:104131043-104131044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537212657	chr5:104131051-104131052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546348062	chr5:104131059-104131060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564589223	chr5:104131066-104131067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191777129	chr5:104131166-104131167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145325807	chr5:104131168-104131169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181842224	chr5:104131194-104131195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536558449	chr5:104131264-104131265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377588541	chr5:104131272-104131273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573202846	chr5:104131286-104131287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137957675	chr5:104131318-104131319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550726076	chr5:104131334-104131335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377062210	chr5:104131340-104131341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558819527	chr5:104131345-104131346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112017024	chr5:104131355-104131356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567956883	chr5:104131356-104131357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34298520	chr5:104131357-104131358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200591100	chr5:104131359-104131360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560377404	chr5:104131375-104131376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201415224	chr5:104131377-104131378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568742661	chr5:104131395-104131396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543615461	chr5:104131428-104131429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71588368	chr5:104131437-104131438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145946841	chr5:104131457-104131458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17431144	chr5:104131518-104131519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370344457	chr5:104131528-104131529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568322015	chr5:104131556-104131557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528105013	chr5:104131591-104131592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545003685	chr5:104131631-104131632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17431165	chr5:104131657-104131658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187271186	chr5:104131762-104131763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34570910	chr5:104131793-104131794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550718556	chr5:104131794-104131795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35888781	chr5:104131814-104131815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34009736	chr5:104131818-104131819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13157752	chr5:104131835-104131836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530325271	chr5:104131854-104131855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547004740	chr5:104131881-104131882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78696054	chr5:104131948-104131949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538623495	chr5:104131965-104131966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533255243	chr5:104135037-104135038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs551914560	chr5:104135054-104135055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs151229103	chr5:104135067-104135068	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs13163824	chr5:104135071-104135072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs375834102	chr5:104135099-104135100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs140332044	chr5:104135141-104135142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104130000-104132000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:104136200-104136400	ZNF genes & repeats	Aorta	Aorta
3	chr5:104137600-104138400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:104150800-104151200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:104151200-104154800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:104157200-104157800	Enhancers	Fetal Intestine Large	intestine
7	chr5:104157200-104159600	Enhancers	Fetal Intestine Small	intestine
8	chr5:104173200-104173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:104173200-104173400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:104173200-104173400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:104173200-104173400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:104173200-104173400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:104173200-104173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:104173400-104179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:104174800-104176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:104175000-104175800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:104175000-104176200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:104175000-104177000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:104175000-104180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:104175200-104175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:104175200-104175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:104175200-104175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:104175200-104176200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:104175400-104176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:104175600-104178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:104175800-104181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:104176200-104178200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:104176200-104178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:104176200-104179600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:104177000-104178200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:104178200-104178800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:104178200-104179000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:104178400-104178800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:104178600-104179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:104178800-104181200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:104179000-104181400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:104179000-104181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:104179400-104180200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:104179600-104180200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:104179600-104180200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:104179600-104180200	Enhancers	Gastric	stomach
42	chr5:104180000-104182800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:104180200-104181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:104180200-104181600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:104181200-104181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:104181200-104182000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:104181400-104181600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:104181400-104182000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:104181600-104181800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:104181800-104182000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links