Variant report

Variant	nsv1021423
Chromosome Location	chr5:105865862-106106525
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	ATF2	chr5:105937147-105937733	GM12878	blood:	n/a	n/a
2	BATF	chr5:106016002-106016273	GM12878	blood:	n/a	n/a
3	BATF	chr5:105889044-105889346	GM12878	blood:	n/a	n/a
4	BATF	chr5:105952737-105952935	GM12878	blood:	n/a	n/a
5	BATF	chr5:105952746-105952947	GM12878	blood:	n/a	n/a
6	BATF	chr5:105889076-105889285	GM12878	blood:	n/a	n/a
7	BATF	chr5:105871246-105871400	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:105871234-105871399	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:105889001-105889386	GM12878	blood:	n/a	n/a
10	BCLAF1	chr5:106015965-106016276	GM12878	blood:	n/a	chr5:106016208-106016217
11	BHLHE40	chr5:105938056-105938340	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:105889035-105889258	HepG2	liver:	n/a	n/a
13	BHLHE40	chr5:105887552-105887806	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:105937145-105937565	GM12878	blood:	n/a	n/a
15	BRCA1	chr5:106035012-106035163	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr5:105871319-105871346	GM12878	blood:	n/a	n/a
17	CEBPB	chr5:106104060-106104536	A549	lung:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
18	CEBPB	chr5:106044207-106044371	HepG2	liver:	n/a	chr5:106044326-106044337
19	CEBPB	chr5:106104119-106104471	K562	blood:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
20	CEBPB	chr5:106104140-106104394	A549	lung:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
21	CEBPB	chr5:106064419-106064527	K562	blood:	n/a	n/a
22	CEBPB	chr5:105902109-105902237	A549	lung:	n/a	n/a
23	CEBPB	chr5:105893027-105893313	A549	lung:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
24	CEBPB	chr5:106064377-106064630	A549	lung:	n/a	n/a
25	CEBPB	chr5:106104113-106104466	MCF-7	breast:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
26	CEBPB	chr5:106067651-106067739	HepG2	liver:	n/a	chr5:106067676-106067687
27	CEBPB	chr5:106072244-106072341	H1-hESC	embryonic stem cell:	n/a	chr5:106072263-106072274
28	CEBPB	chr5:106104189-106104416	H1-hESC	embryonic stem cell:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
29	CEBPB	chr5:105891848-105892093	HepG2	liver:	n/a	n/a
30	CEBPB	chr5:106064429-106064545	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr5:106064332-106064639	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:106104116-106104465	IMR90	lung:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
33	CEBPB	chr5:105941355-105941494	A549	lung:	n/a	n/a
34	CEBPB	chr5:106104112-106104478	HepG2	liver:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
35	CEBPB	chr5:106072208-106072405	HepG2	liver:	n/a	chr5:106072263-106072274
36	CEBPB	chr5:105891864-105892159	IMR90	lung:	n/a	n/a
37	CEBPB	chr5:106059098-106059295	A549	lung:	n/a	n/a
38	CEBPB	chr5:106104093-106104468	Hela-S3	cervix:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
39	CEBPB	chr5:106092296-106092480	HepG2	liver:	n/a	chr5:106092396-106092407
40	CEBPB	chr5:105937335-105937784	MCF-7	breast:	n/a	n/a
41	CEBPB	chr5:105893061-105893350	IMR90	lung:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
42	CEBPB	chr5:105891868-105892016	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr5:106072169-106072380	A549	lung:	n/a	chr5:106072263-106072274
44	CEBPB	chr5:105937304-105937803	MCF-7	breast:	n/a	n/a
45	CEBPB	chr5:106072855-106073076	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr5:105893053-105893322	HepG2	liver:	n/a	chr5:105893187-105893198 chr5:105893189-105893200 chr5:105893187-105893200
47	CEBPB	chr5:105935606-105935875	A549	lung:	n/a	chr5:105935743-105935756 chr5:105935745-105935754
48	CEBPB	chr5:106104109-106104458	A549	lung:	n/a	chr5:106104282-106104293 chr5:106104283-106104294 chr5:106104284-106104293 chr5:106104282-106104295 chr5:106104282-106104295
49	CEBPB	chr5:105937416-105937591	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr5:105871324-105871348	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:105971307..105972912-chr5:105974720..105977019,2	MCF-7	breast:
2	chr5:105971307..105972912-chr5:105974720..105977019,2	MCF-7	breast:
3	chr5:106091111..106094042-chr5:106098260..106100095,2	K562	blood:
4	chr5:105907774..105910252-chr5:105911884..105914582,2	K562	blood:
5	chr5:106091111..106094042-chr5:106098260..106100095,2	K562	blood:
6	chr5:105938151..105940256-chr5:105942344..105944925,2	MCF-7	breast:
7	chr5:105907051..105910252-chr5:105911452..105914582,3	K562	blood:
8	chr5:105907774..105910252-chr5:105911884..105914582,2	K562	blood:
9	chr5:105938151..105940256-chr5:105942344..105944925,2	MCF-7	breast:
10	chr5:105982713..105983578-chr7:143652953..143653920,2	MCF-7	breast:
11	chr5:105907051..105910252-chr5:105911452..105914582,3	K562	blood:

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

Extended variants
information (count: 2175 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2175 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574423829	chr5:105870835-105870836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138057182	chr5:105870854-105870855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185768671	chr5:105870898-105870899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189032255	chr5:105870908-105870909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13183827	chr5:105870935-105870936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180967518	chr5:105870969-105870970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79965661	chr5:105870971-105870972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74795537	chr5:105871023-105871024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4566775	chr5:105871029-105871030	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548511259	chr5:105871039-105871040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548672420	chr5:105871051-105871052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568267302	chr5:105871061-105871062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530064652	chr5:105871065-105871066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202245563	chr5:105871067-105871068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145726817	chr5:105871073-105871074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370757084	chr5:105871076-105871077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566599827	chr5:105871081-105871082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111451382	chr5:105871088-105871089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558713420	chr5:105871111-105871112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569477849	chr5:105871134-105871135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538155714	chr5:105871135-105871136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556426730	chr5:105871157-105871158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567351866	chr5:105871182-105871183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536418951	chr5:105871257-105871258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540262117	chr5:105871295-105871296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553776725	chr5:105871303-105871304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs577030809	chr5:105871320-105871321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111736194	chr5:105871325-105871326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566937478	chr5:105871328-105871329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545874725	chr5:105871331-105871332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74407268	chr5:105871351-105871352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150909572	chr5:105871361-105871362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183900022	chr5:105871371-105871372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541649357	chr5:105871374-105871375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs555864981	chr5:105871378-105871379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571501671	chr5:105871384-105871385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79024987	chr5:105871429-105871430	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs10036851	chr5:105871461-105871462	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138263635	chr5:105871463-105871464	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs149622315	chr5:105871475-105871476	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs552204242	chr5:105871483-105871484	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs535341136	chr5:105871489-105871490	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs188718616	chr5:105871514-105871515	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs146090682	chr5:105871522-105871523	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs140099334	chr5:105871539-105871540	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs568758967	chr5:105871570-105871571	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs75957347	chr5:105871575-105871576	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs181502162	chr5:105871582-105871583	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs576862559	chr5:105871615-105871616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552727600	chr5:105871621-105871622	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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105870800-105871200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:105871000-105871600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:105871200-105871600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:105871200-105871600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:105871200-105871600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr5:105871200-105871600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:105871200-105871600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr5:105871200-105871600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:105871200-105871600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:105871200-105871600	ZNF genes & repeats	Esophagus	oesophagus
11	chr5:105871200-105871600	ZNF genes & repeats	Fetal Kidney	kidney
12	chr5:105871200-105871600	ZNF genes & repeats	Pancreas	Pancrea
13	chr5:105871400-105871600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr5:105871400-105871600	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr5:105871400-105871600	Flanking Bivalent TSS/Enh	Gastric	stomach
16	chr5:105871600-105877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:105877000-105877200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:105879200-105880600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:105910800-105911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:105916000-105916600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:105916200-105916600	Enhancers	Brain Germinal Matrix	brain
22	chr5:105916200-105916600	Enhancers	Fetal Brain Female	brain
23	chr5:105916400-105919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:105916600-105919800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:105919800-105920200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:105919800-105920200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:105920000-105920200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:105920000-105920400	Active TSS	Aorta	Aorta
29	chr5:105920000-105920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:105920000-105920600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:105920200-105920400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:105920400-105920600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:105920600-105922600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:105922000-105922800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:105922600-105923000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:105936400-105937800	Enhancers	GM12878-XiMat	blood
37	chr5:105936600-105937800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr5:105936800-105938200	Enhancers	Fetal Kidney	kidney
39	chr5:105937400-105937600	Enhancers	Fetal Lung	lung
40	chr5:105945800-105946200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:105949600-105950400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:105952200-105952800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:105969200-105969600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr5:105969600-105970000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:105969800-105970600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:105969800-105970600	Enhancers	HUVEC	blood vessel
47	chr5:105970600-105972400	Weak transcription	HUVEC	blood vessel
48	chr5:105972400-105973200	Enhancers	HUVEC	blood vessel
49	chr5:105983800-105986400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:105984000-105984600	Enhancers	Brain Substantia Nigra	brain

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