Variant report

Variant	nsv882692
Chromosome Location	chr5:108391660-108474166
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	ATF1	chr5:108439554-108439602	K562	blood:	n/a	n/a
2	ATF1	chr5:108416612-108416669	K562	blood:	n/a	n/a
3	CEBPB	chr5:108397102-108397282	HepG2	liver:	n/a	chr5:108397233-108397242
4	CEBPB	chr5:108398887-108399087	IMR90	lung:	n/a	n/a
5	CEBPB	chr5:108420071-108420173	K562	blood:	n/a	chr5:108420102-108420113
6	CEBPB	chr5:108419919-108420222	HepG2	liver:	n/a	chr5:108420102-108420113
7	CEBPB	chr5:108419932-108420189	IMR90	lung:	n/a	chr5:108420102-108420113
8	CEBPB	chr5:108419942-108420188	A549	lung:	n/a	chr5:108420102-108420113
9	CTCF	chr5:108441226-108441337	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr5:108451760-108451981	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:108416515-108416602	GM20000	blood:	n/a	n/a
12	CTCF	chr5:108431077-108431267	MCF-7	breast:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
13	CTCF	chr5:108431120-108431270	AG04449	skin:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
14	CTCF	chr5:108431020-108431170	HVMF	connective:	n/a	chr5:108431157-108431170
15	CTCF	chr5:108431000-108431150	A549	lung:	n/a	n/a
16	CTCF	chr5:108451786-108451953	LNCaP	prostate:	n/a	n/a
17	CTCF	chr5:108431080-108431230	BE2_C	brain:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
18	CTCF	chr5:108418960-108419110	HCFaa	heart:	n/a	n/a
19	CTCF	chr5:108451722-108452018	K562	blood:	n/a	n/a
20	CTCF	chr5:108451760-108451910	GM06990	blood:	n/a	n/a
21	CTCF	chr5:108431143-108431202	HepG2	liver:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
22	CTCF	chr5:108431060-108431210	HCPEpiC	choroid plexus:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
23	CTCF	chr5:108431122-108431196	K562	blood:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
24	CTCF	chr5:108451821-108451974	K562	blood:	n/a	n/a
25	CTCF	chr5:108431096-108431257	MCF-7	breast:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
26	CTCF	chr5:108431107-108431249	K562	blood:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
27	CTCF	chr5:108444180-108444330	HMF	breast:	n/a	n/a
28	CTCF	chr5:108451806-108451971	LNCaP	prostate:	n/a	n/a
29	CTCF	chr5:108431027-108431292	GM12878	blood:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
30	CTCF	chr5:108451542-108451615	LNCaP	prostate:	n/a	n/a
31	CTCF	chr5:108451885-108451906	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:108431048-108431338	MCF-7	breast:	n/a	chr5:108431157-108431170 chr5:108431155-108431173 chr5:108431150-108431171
33	E2F4	chr5:108440976-108441124	MCF10A-Er-Src	breast:	n/a	chr5:108441035-108441049
34	E2F4	chr5:108468966-108469153	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr5:108419682-108420066	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr5:108441394-108441513	MCF10A-Er-Src	breast:	n/a	n/a
37	EBF1	chr5:108441321-108441418	GM12878	blood:	n/a	n/a
38	EBF1	chr5:108398397-108398484	GM12878	blood:	n/a	chr5:108398462-108398472 chr5:108398463-108398472 chr5:108398461-108398474
39	ELF1	chr5:108416594-108416899	HepG2	liver:	n/a	n/a
40	ELF1	chr5:108416551-108416896	HepG2	liver:	n/a	n/a
41	EP300	chr5:108441178-108442154	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr5:108441200-108442040	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr5:108440957-108442265	SK-N-SH	brain:	n/a	n/a
44	EP300	chr5:108412296-108413067	SK-N-SH	brain:	n/a	n/a
45	EP300	chr5:108443328-108443828	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr5:108440907-108442432	SK-N-SH	brain:	n/a	n/a
47	EP300	chr5:108416883-108416894	GM12878	blood:	n/a	n/a
48	EP300	chr5:108441029-108442233	SK-N-SH	brain:	n/a	n/a
49	EP300	chr5:108443387-108443811	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr5:108401164-108401187	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:108431384..108431904-chr7:73280550..73281110,2	MCF-7	breast:
2	chr5:108450522..108453452-chr5:108454004..108456725,2	K562	blood:
3	chr5:108421631..108425653-chr5:108427345..108431594,4	K562	blood:
4	chr5:107716336..107718307-chr5:108409146..108410874,2	MCF-7	breast:
5	chr5:108441092..108442647-chr5:108444693..108446908,2	MCF-7	breast:
6	chr5:107817003..107817533-chr5:108430905..108431714,2	MCF-7	breast:
7	chr5:108421631..108425653-chr5:108427345..108431594,4	K562	blood:
8	chr5:108425184..108427337-chr5:108429804..108432211,2	K562	blood:
9	chr5:108416839..108418861-chr5:108419923..108421863,2	MCF-7	breast:
10	chr10:104927915..104928497-chr5:108463475..108464475,2	MCF-7	breast:
11	chr5:108425184..108427337-chr5:108429804..108432211,2	K562	blood:
12	chr15:70389785..70390556-chr5:108422890..108423870,2	MCF-7	breast:
13	chr5:108432296..108433865-chr5:108435051..108437891,2	MCF-7	breast:
14	chr5:108432296..108433865-chr5:108435051..108437891,2	MCF-7	breast:
15	chr5:108441092..108442647-chr5:108444693..108446908,2	MCF-7	breast:
16	chr15:70389819..70390406-chr5:108422870..108423390,2	HCT-116	colon:
17	chr5:108416839..108418861-chr5:108419923..108421863,2	MCF-7	breast:
18	chr5:108450522..108453452-chr5:108454004..108456725,2	K562	blood:

Variant related genes	Relation type
GJA1P1	TF binding region
ENSG00000140332	chromatin interactions
ENSG00000145743	chromatin interactions

Extended variants
information (count: 3444 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3444 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7719329	chr5:108391660-108391661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72790596	chr5:108391668-108391669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138250908	chr5:108391669-108391670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566629632	chr5:108391672-108391673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372199075	chr5:108391677-108391678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142760946	chr5:108391705-108391706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7701826	chr5:108391761-108391762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552075198	chr5:108391774-108391775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568978654	chr5:108391818-108391819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537502932	chr5:108391868-108391869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554155398	chr5:108391887-108391888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74550706	chr5:108391894-108391895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28874995	chr5:108391909-108391910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553657630	chr5:108391948-108391949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184717580	chr5:108391958-108391959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545624474	chr5:108391959-108391960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565335308	chr5:108391987-108391988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76717084	chr5:108392009-108392010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544681691	chr5:108392019-108392020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190047137	chr5:108392044-108392045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146285317	chr5:108392089-108392090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76145844	chr5:108392090-108392091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576448771	chr5:108392110-108392111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560434735	chr5:108392142-108392143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369470645	chr5:108392163-108392164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552350521	chr5:108392187-108392188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141276707	chr5:108392208-108392209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568920079	chr5:108392233-108392234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531322641	chr5:108392239-108392240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs367918452	chr5:108392251-108392252	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs547855045	chr5:108392269-108392270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567797004	chr5:108392270-108392271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181694712	chr5:108392274-108392275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553479908	chr5:108392284-108392285	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs567200930	chr5:108392295-108392296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570485709	chr5:108392317-108392318	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138137219	chr5:108392341-108392342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs559120760	chr5:108392403-108392404	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370215750	chr5:108392441-108392442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575878575	chr5:108392490-108392491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372952141	chr5:108392539-108392540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544798001	chr5:108392582-108392583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73213522	chr5:108392583-108392584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10066497	chr5:108392602-108392603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532571303	chr5:108392606-108392607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149524481	chr5:108392609-108392610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532448069	chr5:108392646-108392647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546391095	chr5:108392691-108392692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369088884	chr5:108392696-108392697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562727104	chr5:108392699-108392700	Weak transcription	n/a	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
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
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108356000-108399000	Weak transcription	HSMM	muscle
2	chr5:108360400-108400400	Weak transcription	NHEK	skin
3	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
5	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:108387600-108395200	Weak transcription	Fetal Stomach	stomach
8	chr5:108387800-108394800	Weak transcription	Left Ventricle	heart
9	chr5:108388000-108396600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:108388000-108401200	Weak transcription	Gastric	stomach
11	chr5:108388200-108391800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:108388200-108393200	Weak transcription	Pancreas	Pancrea
13	chr5:108388200-108396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:108388200-108401800	Weak transcription	Ovary	ovary
15	chr5:108388400-108391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:108388400-108392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:108388800-108396600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:108388800-108397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:108388800-108412000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:108389000-108396200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:108389800-108392200	Enhancers	Fetal Heart	heart
22	chr5:108390200-108396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:108390200-108398400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:108390600-108401600	Weak transcription	HSMMtube	muscle
25	chr5:108390800-108396000	Weak transcription	Fetal Lung	lung
26	chr5:108391000-108396000	Weak transcription	NHDF-Ad	bronchial
27	chr5:108392000-108392200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:108393200-108393400	Enhancers	Pancreas	Pancrea
29	chr5:108396000-108396800	Enhancers	Fetal Lung	lung
30	chr5:108396000-108397000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:108396000-108399600	Enhancers	NHDF-Ad	bronchial
32	chr5:108396600-108398400	Enhancers	Adipose Nuclei	Adipose
33	chr5:108396600-108399600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:108397000-108397400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:108397200-108399000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:108397200-108399600	Enhancers	Osteobl	bone
37	chr5:108397400-108398400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:108397600-108399600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:108398400-108399200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:108398400-108399600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr5:108398400-108400600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:108399000-108399200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:108399000-108399200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:108399000-108399600	Enhancers	HSMM	muscle
45	chr5:108399600-108401200	Weak transcription	NHDF-Ad	bronchial
46	chr5:108400400-108400600	Enhancers	NHEK	skin
47	chr5:108401000-108401200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:108401200-108401400	Enhancers	Gastric	stomach
49	chr5:108401200-108402600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:108402600-108403000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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