Variant report

Variant	nsv964848
Chromosome Location	chr5:43495039-43497079
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	CEBPB	chr5:43496916-43496919	A549	lung:	n/a	n/a
2	CEBPB	chr5:43496969-43497098	K562	blood:	n/a	chr5:43496993-43497004 chr5:43496995-43497004 chr5:43496995-43497004 chr5:43496993-43497006 chr5:43496995-43497004 chr5:43496995-43497004 chr5:43496994-43497005
3	CEBPB	chr5:43496925-43497014	Hela-S3	cervix:	n/a	chr5:43496993-43497004 chr5:43496995-43497004 chr5:43496995-43497004 chr5:43496993-43497006 chr5:43496995-43497004 chr5:43496995-43497004 chr5:43496994-43497005
4	CEBPB	chr5:43496853-43497083	HepG2	liver:	n/a	chr5:43496993-43497004 chr5:43496995-43497004 chr5:43496995-43497004 chr5:43496993-43497006 chr5:43496995-43497004 chr5:43496995-43497004 chr5:43496994-43497005
5	GABPA	chr5:43495373-43495691	Hela-S3	cervix:	n/a	n/a
6	GATA2	chr5:43495867-43496629	K562	blood:	n/a	n/a
7	GATA2	chr5:43495468-43495817	K562	blood:	n/a	n/a
8	HEY1	chr5:43495498-43495675	HepG2	liver:	n/a	n/a
9	HEY1	chr5:43495897-43496023	HepG2	liver:	n/a	n/a
10	HEY1	chr5:43495878-43496559	HepG2	liver:	n/a	n/a
11	HEY1	chr5:43496236-43496446	HepG2	liver:	n/a	n/a
12	HEY1	chr5:43495432-43495862	K562	blood:	n/a	n/a
13	HEY1	chr5:43495468-43495802	HepG2	liver:	n/a	n/a
14	HEY1	chr5:43496465-43496600	HepG2	liver:	n/a	n/a
15	HEY1	chr5:43496212-43496617	K562	blood:	n/a	n/a
16	HEY1	chr5:43495152-43496644	K562	blood:	n/a	n/a
17	IRF4	chr5:43495432-43495896	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:43494961-43495138	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:43495158-43496627	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:43495822-43495901	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:43496188-43496604	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:43495495-43495824	HepG2	liver:	n/a	n/a
23	POLR2A	chr5:43496210-43496691	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:43496210-43496583	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:43495517-43496008	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:43495036-43496635	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:43496226-43496382	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:43496237-43496596	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr5:43495094-43496668	GM12892	blood:	n/a	n/a
30	POLR2A	chr5:43495505-43495956	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:43496222-43496606	GM12891	blood:	n/a	n/a
32	POLR2A	chr5:43495119-43496589	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:43496201-43496706	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:43495145-43495476	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:43495233-43496683	GM12892	blood:	n/a	n/a
36	POLR2A	chr5:43494763-43496825	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:43496126-43496615	GM12891	blood:	n/a	n/a
38	POLR2A	chr5:43495536-43495698	A549	lung:	n/a	n/a
39	POLR2A	chr5:43495103-43496065	GM12891	blood:	n/a	n/a
40	POLR2A	chr5:43495490-43495880	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:43495418-43496629	GM12891	blood:	n/a	n/a
42	POLR2A	chr5:43494936-43496658	GM12892	blood:	n/a	n/a
43	POLR2A	chr5:43495389-43495954	GM12891	blood:	n/a	n/a
44	POLR2A	chr5:43495040-43496668	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:43495174-43496206	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr5:43494914-43496199	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:43495547-43495646	A549	lung:	n/a	n/a
48	POU2F2	chr5:43496225-43496659	GM12878	blood:	n/a	n/a
49	POU2F2	chr5:43495535-43495705	GM12878	blood:	n/a	n/a
50	POU2F2	chr5:43495349-43495895	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43492958..43496030-chr5:43496815..43500096,4	MCF-7	breast:
2	chr5:43488630..43490771-chr5:43496905..43499855,3	MCF-7	breast:
3	chr5:43493008..43494721-chr5:43496450..43499089,2	MCF-7	breast:

Variant related genes	Relation type
EEF1A1P19	TF binding region
C5orf34	TF binding region
ENSG00000172244	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573719034	chr5:43495050-43495051	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575842441	chr5:43495057-43495058	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538048219	chr5:43495079-43495080	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143982974	chr5:43495081-43495082	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541110557	chr5:43495088-43495089	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574939258	chr5:43495137-43495138	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540882455	chr5:43495165-43495166	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs193097326	chr5:43495169-43495170	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572476619	chr5:43495177-43495178	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185863270	chr5:43495187-43495188	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553228350	chr5:43495198-43495199	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187720138	chr5:43495209-43495210	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530669962	chr5:43495225-43495226	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550498090	chr5:43495263-43495264	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147328122	chr5:43495275-43495276	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529858192	chr5:43495284-43495285	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs11744792	chr5:43495315-43495316	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191410715	chr5:43495319-43495320	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370042279	chr5:43495326-43495327	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566801483	chr5:43495335-43495336	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539021067	chr5:43495417-43495418	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552645743	chr5:43495418-43495419	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs183531280	chr5:43495420-43495421	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538292870	chr5:43495466-43495467	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577880200	chr5:43495467-43495468	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs115329886	chr5:43495469-43495470	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188615748	chr5:43495499-43495500	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534148723	chr5:43495516-43495517	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181062889	chr5:43495588-43495589	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577150835	chr5:43495590-43495591	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs544592302	chr5:43495597-43495598	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs56333629	chr5:43495599-43495600	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs142521440	chr5:43495605-43495606	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs544255156	chr5:43495641-43495642	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560841945	chr5:43495648-43495649	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs10066408	chr5:43495684-43495685	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs185194978	chr5:43495685-43495686	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561112059	chr5:43495706-43495707	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs560463557	chr5:43495731-43495732	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532498581	chr5:43495737-43495738	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs190423360	chr5:43495750-43495751	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569238043	chr5:43495764-43495765	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs34063442	chr5:43495772-43495773	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs12656199	chr5:43495777-43495778	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs202054782	chr5:43495791-43495792	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs548633496	chr5:43495816-43495817	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs568486139	chr5:43495821-43495822	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs534387189	chr5:43495822-43495823	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553984198	chr5:43495889-43495890	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570805502	chr5:43495893-43495894	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43498000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:43484800-43502800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:43484800-43502800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:43484800-43502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:43484800-43502800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:43484800-43505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:43484800-43511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:43484800-43514600	Weak transcription	Ovary	ovary
10	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
11	chr5:43485000-43497800	Weak transcription	Placenta	Placenta
12	chr5:43485000-43501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:43485000-43501000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:43485000-43502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:43485000-43503000	Weak transcription	NHEK	skin
16	chr5:43485000-43503400	Weak transcription	Brain Germinal Matrix	brain
17	chr5:43485000-43504600	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:43485000-43505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:43485200-43502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:43485200-43505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:43485200-43505400	Weak transcription	Fetal Intestine Large	intestine
25	chr5:43485200-43505400	Weak transcription	Fetal Stomach	stomach
26	chr5:43485200-43506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:43485200-43506000	Weak transcription	Adipose Nuclei	Adipose
28	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
29	chr5:43485200-43513200	Weak transcription	NHLF	lung
30	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung
32	chr5:43485200-43513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:43485200-43513600	Weak transcription	Fetal Intestine Small	intestine
34	chr5:43485200-43513600	Weak transcription	HSMM	muscle
35	chr5:43485200-43513600	Weak transcription	NH-A	brain
36	chr5:43485200-43514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:43485400-43495800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:43485400-43501200	Weak transcription	A549	lung
39	chr5:43485400-43502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:43485400-43505400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:43485400-43514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:43485800-43503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:43485800-43505200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:43485800-43505600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:43485800-43514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:43486000-43497600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:43486000-43501200	Weak transcription	Osteobl	bone
48	chr5:43486000-43503000	Weak transcription	Thymus	Thymus
49	chr5:43486000-43509800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:43486000-43514200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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