Variant report

Variant	nsv1015968
Chromosome Location	chr5:59736744-59772485
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	ARID3A	chr5:59769493-59769923	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:59759049-59759883	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:59742744-59743990	HepG2	liver:	n/a	chr5:59743535-59743551
4	ATF3	chr5:59758895-59759556	A549	lung:	n/a	n/a
5	BCL3	chr5:59758832-59759533	A549	lung:	n/a	n/a
6	BCL3	chr5:59758809-59759695	A549	lung:	n/a	chr5:59759578-59759587
7	BHLHE40	chr5:59743228-59743638	HepG2	liver:	n/a	n/a
8	BHLHE40	chr5:59743262-59743636	HepG2	liver:	n/a	n/a
9	BHLHE40	chr5:59758972-59759353	A549	lung:	n/a	n/a
10	BHLHE40	chr5:59758956-59759660	HepG2	liver:	n/a	n/a
11	BHLHE40	chr5:59742844-59743730	HepG2	liver:	n/a	n/a
12	BRCA1	chr5:59758918-59759295	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr5:59747083-59747168	K562	blood:	n/a	n/a
14	CEBPB	chr5:59758995-59759301	K562	blood:	n/a	chr5:59759173-59759184
15	CEBPB	chr5:59740891-59741112	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr5:59761806-59762009	A549	lung:	n/a	n/a
17	CEBPB	chr5:59758952-59759391	HepG2	liver:	n/a	chr5:59759173-59759184
18	CEBPB	chr5:59758902-59759356	HepG2	liver:	n/a	chr5:59759173-59759184
19	CEBPB	chr5:59759013-59759326	MCF-7	breast:	n/a	chr5:59759173-59759184
20	CEBPB	chr5:59758981-59759376	K562	blood:	n/a	chr5:59759173-59759184
21	CEBPB	chr5:59738481-59738678	HepG2	liver:	n/a	chr5:59738605-59738616
22	CEBPB	chr5:59744195-59744769	A549	lung:	n/a	chr5:59744753-59744765
23	CEBPB	chr5:59758865-59759496	A549	lung:	n/a	chr5:59759173-59759184 chr5:59758883-59758895
24	CEBPB	chr5:59758957-59759712	HepG2	liver:	n/a	chr5:59759173-59759184
25	CEBPB	chr5:59759016-59759277	HepG2	liver:	n/a	chr5:59759173-59759184
26	CEBPB	chr5:59758780-59759728	A549	lung:	n/a	chr5:59759173-59759184 chr5:59758810-59758822 chr5:59758883-59758895
27	CEBPB	chr5:59744444-59744829	Hela-S3	cervix:	n/a	chr5:59744753-59744765
28	CEBPB	chr5:59758954-59759375	A549	lung:	n/a	chr5:59759173-59759184
29	CEBPB	chr5:59759094-59759253	H1-hESC	embryonic stem cell:	n/a	chr5:59759173-59759184
30	CEBPB	chr5:59758997-59759365	IMR90	lung:	n/a	chr5:59759173-59759184
31	CEBPB	chr5:59758926-59759470	Hela-S3	cervix:	n/a	chr5:59759173-59759184
32	CEBPB	chr5:59758972-59759399	MCF-7	breast:	n/a	chr5:59759173-59759184
33	CHD2	chr5:59759045-59759296	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr5:59754620-59754770	HAc	cerebellar:	n/a	n/a
35	CTCF	chr5:59754620-59754770	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr5:59754609-59754797	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr5:59754600-59754750	SAEC	small airway:	n/a	n/a
38	CTCF	chr5:59754640-59754790	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr5:59762952-59762973	Fibrobl	skin:	n/a	n/a
40	CTCF	chr5:59754583-59754809	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:59754660-59754810	BE2_C	brain:	n/a	n/a
42	CTCF	chr5:59754610-59754792	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:59755354-59755397	Medullo	brain:	n/a	n/a
44	CTCF	chr5:59754111-59754159	Fibrobl	skin:	n/a	n/a
45	CTCF	chr5:59737560-59737622	GM13976	blood:	n/a	n/a
46	CTCF	chr5:59754601-59754828	K562	blood:	n/a	n/a
47	CTCF	chr5:59754620-59754770	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr5:59754618-59754772	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr5:59754560-59754710	GM12874	blood:	n/a	n/a
50	CTCF	chr5:59754600-59754750	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59750546..59752966-chr5:59754525..59756849,2	K562	blood:

Variant related genes	Relation type
SETP21	TF binding region
PDE4D	TF binding region
ENSG00000214244	chromatin interactions

Extended variants
information (count: 1203 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1203 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs702552	chr5:59736744-59736745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs702553	chr5:59736773-59736774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189731490	chr5:59736815-59736816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369833816	chr5:59736868-59736869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546077155	chr5:59736891-59736892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577655174	chr5:59736952-59736953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540521801	chr5:59736996-59736997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560577149	chr5:59736997-59736998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574292168	chr5:59737046-59737047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148131824	chr5:59737066-59737067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563126521	chr5:59737085-59737086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530607913	chr5:59737146-59737147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550737778	chr5:59737150-59737151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367642508	chr5:59737176-59737177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558284132	chr5:59737232-59737233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141964910	chr5:59737287-59737288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546587902	chr5:59737356-59737357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566612528	chr5:59737382-59737383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111351507	chr5:59737391-59737392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78237887	chr5:59737467-59737468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548881737	chr5:59737468-59737469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568745377	chr5:59737473-59737474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537938430	chr5:59737483-59737484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557876279	chr5:59737496-59737497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183940390	chr5:59737599-59737600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533906733	chr5:59737611-59737612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554160017	chr5:59737625-59737626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574231358	chr5:59737637-59737638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543342435	chr5:59737644-59737645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140867277	chr5:59737654-59737655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187218404	chr5:59737655-59737656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566839896	chr5:59737660-59737661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545623775	chr5:59737684-59737685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564133507	chr5:59737689-59737690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191590379	chr5:59737695-59737696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142990312	chr5:59737696-59737697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148688365	chr5:59737758-59737759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529159119	chr5:59737760-59737761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs450407	chr5:59737780-59737781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568706798	chr5:59737782-59737783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531356765	chr5:59737796-59737797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183835796	chr5:59737816-59737817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571380038	chr5:59737820-59737821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144486069	chr5:59737846-59737847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553865321	chr5:59737849-59737850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188329751	chr5:59737890-59737891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575271157	chr5:59737967-59737968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536544094	chr5:59737968-59737969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559022442	chr5:59738050-59738051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145640413	chr5:59738083-59738084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59727200-59766600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59733000-59742600	Weak transcription	Aorta	Aorta
3	chr5:59733200-59738800	Weak transcription	HepG2	liver
4	chr5:59738800-59742800	Enhancers	HepG2	liver
5	chr5:59740000-59741200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:59740000-59741600	Enhancers	Fetal Brain Male	brain
7	chr5:59740200-59740600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:59740400-59741000	Enhancers	Fetal Brain Female	brain
9	chr5:59740400-59741000	Enhancers	Hela-S3	cervix
10	chr5:59740600-59740800	Enhancers	Gastric	stomach
11	chr5:59741000-59744200	Weak transcription	Hela-S3	cervix
12	chr5:59741200-59741600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:59741600-59741800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:59741600-59743200	Enhancers	Stomach Mucosa	stomach
15	chr5:59741600-59744800	Weak transcription	Fetal Brain Male	brain
16	chr5:59741800-59783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:59742600-59743000	Enhancers	Aorta	Aorta
18	chr5:59742600-59743000	Enhancers	A549	lung
19	chr5:59742600-59744400	Enhancers	Gastric	stomach
20	chr5:59742800-59743200	Flanking Active TSS	HepG2	liver
21	chr5:59743000-59743600	Flanking Active TSS	A549	lung
22	chr5:59743000-59743800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:59743200-59744400	Weak transcription	Stomach Mucosa	stomach
24	chr5:59743200-59745200	Enhancers	HepG2	liver
25	chr5:59743400-59743800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr5:59743600-59744000	Active TSS	A549	lung
27	chr5:59743800-59747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:59744000-59744200	Enhancers	A549	lung
29	chr5:59744200-59744400	Flanking Active TSS	A549	lung
30	chr5:59744200-59744600	Enhancers	Brain Angular Gyrus	brain
31	chr5:59744200-59744600	Active TSS	Hela-S3	cervix
32	chr5:59744400-59744600	Enhancers	Stomach Mucosa	stomach
33	chr5:59744400-59744800	Enhancers	A549	lung
34	chr5:59745200-59747400	Weak transcription	HepG2	liver
35	chr5:59747400-59750000	Enhancers	HepG2	liver
36	chr5:59747600-59748800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:59749200-59749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:59749400-59751400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:59749600-59749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:59749600-59749800	Enhancers	HMEC	breast
41	chr5:59749800-59760600	Weak transcription	Aorta	Aorta
42	chr5:59750000-59751200	Weak transcription	HepG2	liver
43	chr5:59751200-59752600	Enhancers	HepG2	liver
44	chr5:59751400-59752400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:59751600-59752000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:59751600-59752000	Enhancers	HMEC	breast
47	chr5:59751600-59753600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:59752000-59753800	Enhancers	Fetal Kidney	kidney
49	chr5:59752200-59752800	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:59752400-59778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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