Variant report

Variant	nsv1020578
Chromosome Location	chr5:105881818-105932959
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	BATF	chr5:105889076-105889285	GM12878	blood:	n/a	n/a
2	BATF	chr5:105889044-105889346	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:105889001-105889386	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:105887552-105887806	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:105889035-105889258	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:105891864-105892159	IMR90	lung:	n/a	n/a
7	CEBPB	chr5:105893027-105893313	A549	lung:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
8	CEBPB	chr5:105891848-105892093	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:105893053-105893322	HepG2	liver:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
10	CEBPB	chr5:105893061-105893350	IMR90	lung:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
11	CEBPB	chr5:105891868-105892016	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:105902109-105902237	A549	lung:	n/a	n/a
13	CTCF	chr5:105897500-105897650	A549	lung:	n/a	n/a
14	CTCF	chr5:105887178-105887223	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr5:105897680-105897830	RPTEC	kidney:	n/a	n/a
16	CTCF	chr5:105897580-105897730	HEK293	kidney:	n/a	n/a
17	CTCF	chr5:105897580-105897730	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:105897500-105897650	GM12875	blood:	n/a	n/a
19	CTCF	chr5:105897560-105897710	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:105929246-105929318	GM20000	blood:	n/a	n/a
21	EBF1	chr5:105889071-105889232	GM12878	blood:	n/a	n/a
22	ELK1	chr5:105894416-105894420	Hela-S3	cervix:	n/a	n/a
23	EP300	chr5:105889087-105889216	GM12878	blood:	n/a	n/a
24	EP300	chr5:105889059-105889244	GM12878	blood:	n/a	n/a
25	ESR1	chr5:105922417-105922661	T-47D	breast:	n/a	n/a
26	FOSL2	chr5:105888973-105889329	HepG2	liver:	n/a	n/a
27	GABPA	chr5:105889071-105889300	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr5:105889101-105889206	Hela-S3	cervix:	n/a	n/a
29	GATA2	chr5:105889065-105889288	K562	blood:	n/a	n/a
30	GATA3	chr5:105926830-105927371	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr5:105926853-105927349	SK-N-SH	brain:	n/a	n/a
32	HEY1	chr5:105889097-105889208	HepG2	liver:	n/a	n/a
33	HEY1	chr5:105889068-105889236	K562	blood:	n/a	n/a
34	HEY1	chr5:105889059-105889244	HepG2	liver:	n/a	n/a
35	JUN	chr5:105924090-105924148	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr5:105889083-105889222	HepG2	liver:	n/a	n/a
37	JUND	chr5:105889080-105889204	HepG2	liver:	n/a	n/a
38	KAP1	chr5:105900167-105900367	K562	blood:	n/a	n/a
39	MAFF	chr5:105931602-105931890	HepG2	liver:	n/a	chr5:105931757-105931775
40	MAFF	chr5:105901767-105902076	HepG2	liver:	n/a	n/a
41	MAFK	chr5:105901847-105902047	Hela-S3	cervix:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
42	MAFK	chr5:105891930-105892200	HepG2	liver:	n/a	chr5:105892053-105892068
43	MAFK	chr5:105931597-105931892	IMR90	lung:	n/a	chr5:105931762-105931773 chr5:105931755-105931771 chr5:105931756-105931770 chr5:105931753-105931773
44	MAFK	chr5:105927194-105927818	HepG2	liver:	n/a	n/a
45	MAFK	chr5:105891974-105892159	HepG2	liver:	n/a	chr5:105892053-105892068
46	MAFK	chr5:105901798-105902086	IMR90	lung:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
47	MAFK	chr5:105901759-105902098	HepG2	liver:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
48	MAFK	chr5:105927494-105927776	HepG2	liver:	n/a	n/a
49	MAFK	chr5:105901776-105902085	HepG2	liver:	n/a	chr5:105901948-105901959 chr5:105901947-105901962 chr5:105901947-105901958 chr5:105901947-105901963 chr5:105901947-105901958 chr5:105901907-105901918 chr5:105901946-105901960 chr5:105901948-105901959 chr5:105901907-105901918
50	MAFK	chr5:105927545-105927829	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:105907051..105910252-chr5:105911452..105914582,3	K562	blood:
2	chr5:105907774..105910252-chr5:105911884..105914582,2	K562	blood:
3	chr5:105907051..105910252-chr5:105911452..105914582,3	K562	blood:
4	chr5:105907774..105910252-chr5:105911884..105914582,2	K562	blood:

Variant related genes	Relation type
ENSG00000250145	TF binding region
ENSG00000252337	TF binding region

Extended variants
information (count: 254 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150214338	chr5:105883378-105883379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560905089	chr5:105883404-105883405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530135234	chr5:105883502-105883503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139193751	chr5:105883516-105883517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77343758	chr5:105883535-105883536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532630851	chr5:105883542-105883543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs141434813	chr5:105910887-105910888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145083116	chr5:105910890-105910891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561747424	chr5:105910900-105910901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138973370	chr5:105910956-105910957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199993316	chr5:105910960-105910961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541359007	chr5:105916050-105916051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367758328	chr5:105916076-105916077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565119899	chr5:105916077-105916078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567746961	chr5:105916184-105916185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564337762	chr5:105916201-105916202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183207120	chr5:105916227-105916228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143878860	chr5:105916392-105916393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148009115	chr5:105916450-105916451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368941586	chr5:105916486-105916487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116440695	chr5:105916496-105916497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531875759	chr5:105916575-105916576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548379898	chr5:105916607-105916608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562338085	chr5:105916618-105916619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56271849	chr5:105916636-105916637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547691765	chr5:105916673-105916674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560824652	chr5:105916677-105916678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56884675	chr5:105916697-105916698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539738757	chr5:105916709-105916710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77152679	chr5:105916762-105916763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569533953	chr5:105916848-105916849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75359607	chr5:105916859-105916860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555141586	chr5:105916938-105916939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572221158	chr5:105916973-105916974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534769653	chr5:105916979-105916980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558086740	chr5:105916985-105916986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554187195	chr5:105917043-105917044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187281808	chr5:105917062-105917063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74347925	chr5:105917073-105917074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73198372	chr5:105917074-105917075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142901456	chr5:105917107-105917108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112245769	chr5:105917117-105917118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542333108	chr5:105917208-105917209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200864532	chr5:105917231-105917232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562009953	chr5:105917232-105917233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527880174	chr5:105917239-105917240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541271647	chr5:105917241-105917242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564328056	chr5:105917396-105917397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534805823	chr5:105917492-105917493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527334663	chr5:105917498-105917499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105910800-105911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:105916000-105916600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:105916200-105916600	Enhancers	Brain Germinal Matrix	brain
4	chr5:105916200-105916600	Enhancers	Fetal Brain Female	brain
5	chr5:105916400-105919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:105916600-105919800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:105919800-105920200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:105919800-105920200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:105920000-105920200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:105920000-105920400	Active TSS	Aorta	Aorta
11	chr5:105920000-105920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:105920000-105920600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:105920200-105920400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:105920400-105920600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:105920600-105922600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:105922000-105922800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:105922600-105923000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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