Variant report

Variant	nsv830284
Chromosome Location	chr5:45847975-45949310
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	BCL11A	chr5:45848140-45848326	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr5:45893475-45893744	Hela-S3	cervix:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
3	CEBPB	chr5:45893484-45893777	A549	lung:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
4	CEBPB	chr5:45905613-45905883	MCF-7	breast:	n/a	n/a
5	CEBPB	chr5:45893568-45893768	K562	blood:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
6	CEBPB	chr5:45893462-45893790	HepG2	liver:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
7	CEBPB	chr5:45893506-45893786	IMR90	lung:	n/a	chr5:45893595-45893608 chr5:45893595-45893608 chr5:45893597-45893608 chr5:45893595-45893608 chr5:45893696-45893709 chr5:45893595-45893606
8	CHD2	chr5:45848073-45848341	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:45862940-45863090	GM12878	blood:	n/a	n/a
10	CTCF	chr5:45864133-45864202	GM20000	blood:	n/a	n/a
11	CTCF	chr5:45862940-45863090	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:45862980-45863130	GM12864	blood:	n/a	n/a
13	CTCF	chr5:45862960-45863110	NB4	blood:	n/a	n/a
14	CTCF	chr5:45857913-45858031	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr5:45862940-45863090	GM12874	blood:	n/a	n/a
16	CTCF	chr5:45925298-45925335	GM10248	blood:	n/a	n/a
17	CTCF	chr5:45863040-45863190	GM12873	blood:	n/a	n/a
18	CTCF	chr5:45862940-45863090	GM12873	blood:	n/a	n/a
19	CTCF	chr5:45857859-45858019	GM10266	blood:	n/a	n/a
20	CTCF	chr5:45862960-45863110	GM06990	blood:	n/a	n/a
21	CTCF	chr5:45863040-45863190	HEK293	kidney:	n/a	n/a
22	CTCF	chr5:45863055-45863069	GM10248	blood:	n/a	n/a
23	CTCF	chr5:45907603-45907642	GM20000	blood:	n/a	n/a
24	CTCF	chr5:45862960-45863110	GM12872	blood:	n/a	n/a
25	CTCF	chr5:45862980-45863130	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:45863041-45863076	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:45863200-45863350	BE2_C	brain:	n/a	n/a
28	CTCF	chr5:45857842-45858017	GM20000	blood:	n/a	n/a
29	CTCF	chr5:45899485-45899515	Fibrobl	skin:	n/a	n/a
30	CTCF	chr5:45857936-45857992	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr5:45857862-45857963	GM13977	blood:	n/a	n/a
32	CTCF	chr5:45858720-45858870	GM12867	blood:	n/a	n/a
33	CTCF	chr5:45863056-45863086	GM13977	blood:	n/a	n/a
34	CTCF	chr5:45862940-45863090	GM12869	blood:	n/a	n/a
35	CTCF	chr5:45857853-45858040	Medullo	brain:	n/a	n/a
36	CTCF	chr5:45857814-45858029	GM10248	blood:	n/a	n/a
37	CTCF	chr5:45862980-45863130	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr5:45870909-45870911	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr5:45863060-45863210	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr5:45862940-45863090	HEK293	kidney:	n/a	n/a
41	CTCF	chr5:45857880-45858014	LNCaP	prostate:	n/a	n/a
42	CTCF	chr5:45862960-45863110	HCT-116	colon:	n/a	n/a
43	CTCF	chr5:45862880-45863030	BE2_C	brain:	n/a	n/a
44	CTCF	chr5:45862980-45863130	GM06990	blood:	n/a	n/a
45	CTCF	chr5:45931968-45932010	GM20000	blood:	n/a	n/a
46	CTCF	chr5:45907161-45907220	GM20000	blood:	n/a	n/a
47	CTCF	chr5:45862920-45863070	HCT-116	colon:	n/a	n/a
48	CTCF	chr5:45862907-45863233	GM12878	blood:	n/a	n/a
49	CTCF	chr5:45863000-45863150	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr5:45862960-45863110	GM12868	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56742322..56745282-chr5:45859385..45861280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250122	TF binding region
ENSG00000199426	chromatin interactions

Extended variants
information (count: 2283 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2283 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111570086	chr5:45847992-45847993	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs71618213	chr5:45847993-45847994	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531037771	chr5:45847994-45847995	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549106437	chr5:45848006-45848007	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565308546	chr5:45848017-45848018	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531151537	chr5:45848030-45848031	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187859177	chr5:45848031-45848032	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73094270	chr5:45848049-45848050	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374024542	chr5:45848050-45848051	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546633277	chr5:45848064-45848065	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112348625	chr5:45848084-45848085	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376652294	chr5:45848099-45848100	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528344548	chr5:45848105-45848106	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574179644	chr5:45848111-45848112	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371274476	chr5:45848131-45848132	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551667645	chr5:45848133-45848134	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571336221	chr5:45848170-45848171	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374514727	chr5:45848173-45848174	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192432945	chr5:45848174-45848175	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185628441	chr5:45848218-45848219	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536362190	chr5:45848243-45848244	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374492374	chr5:45848265-45848266	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs151224802	chr5:45848290-45848291	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552958676	chr5:45848299-45848300	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368548520	chr5:45848320-45848321	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572818902	chr5:45848333-45848334	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs188836113	chr5:45848343-45848344	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368936068	chr5:45848352-45848353	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559237747	chr5:45848388-45848389	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575729505	chr5:45848390-45848391	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs140415671	chr5:45848407-45848408	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192043774	chr5:45848411-45848412	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371886332	chr5:45848427-45848428	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184540829	chr5:45848433-45848434	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs540348200	chr5:45848445-45848446	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528696070	chr5:45848454-45848455	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs35756698	chr5:45848462-45848463	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532569971	chr5:45848510-45848511	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551363863	chr5:45848523-45848524	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528201909	chr5:45848539-45848540	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs150349631	chr5:45848542-45848543	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530713982	chr5:45848555-45848556	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550754072	chr5:45848567-45848568	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112713321	chr5:45848568-45848569	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536325790	chr5:45848609-45848610	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs188513094	chr5:45848610-45848611	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553120062	chr5:45848618-45848619	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181216616	chr5:45848619-45848620	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs138050529	chr5:45848622-45848623	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558987206	chr5:45848624-45848625	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45847600-45848200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:45847600-45848400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:45847600-45848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:45847600-45848800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:45847600-45848800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr5:45847600-45848800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr5:45847600-45848800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:45847600-45848800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:45847800-45848600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:45847800-45848600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:45890800-45891200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:45891400-45891600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr5:45905400-45914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45911400-45912000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr5:45911400-45912600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
17	chr5:45914200-45916000	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
32	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links