Variant report

Variant	nsv460523
Chromosome Location	chr3:43025986-43063406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43042013..43044443-chr3:43044465..43047233,2	K562	blood:
2	chr3:43032109..43034625-chr3:43036764..43039846,3	K562	blood:
3	chr3:43047918..43050087-chr3:43062104..43064961,2	K562	blood:
4	chr3:43060384..43063031-chr3:43093535..43095957,2	K562	blood:
5	chr3:43044130..43046332-chr3:43052045..43054420,2	K562	blood:
6	chr3:43059886..43061659-chr3:43065331..43067767,2	MCF-7	breast:
7	chr3:43034015..43036894-chr3:43051666..43054452,2	K562	blood:
8	chr3:43032109..43034625-chr3:43036764..43039846,3	K562	blood:
9	chr3:43047918..43050087-chr3:43062104..43064961,2	K562	blood:
10	chr3:43034015..43036894-chr3:43051666..43054452,2	K562	blood:
11	chr3:43044130..43046332-chr3:43052045..43054420,2	K562	blood:
12	chr3:43062963..43065859-chr3:43071110..43073966,2	K562	blood:
13	chr3:43034830..43037319-chr3:43041912..43044241,2	K562	blood:
14	chr3:43042013..43044443-chr3:43044465..43047233,2	K562	blood:
15	chr3:43034830..43037319-chr3:43041912..43044241,2	K562	blood:

No data

Extended variants
information (count: 1387 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1387 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6798412	chr3:43025986-43025987	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115501671	chr3:43025998-43025999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146718399	chr3:43026061-43026062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73070674	chr3:43026084-43026085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371142106	chr3:43026121-43026122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537938940	chr3:43026142-43026143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116786103	chr3:43026188-43026189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557816530	chr3:43026192-43026193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571436337	chr3:43026283-43026284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs834183	chr3:43026320-43026321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556886004	chr3:43026330-43026331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573833289	chr3:43026414-43026415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542578665	chr3:43026416-43026417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568134477	chr3:43026439-43026440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189818239	chr3:43026471-43026472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552896041	chr3:43026502-43026503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572858366	chr3:43026510-43026511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545048123	chr3:43026541-43026542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574978741	chr3:43026560-43026561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564967653	chr3:43026565-43026566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201234793	chr3:43026583-43026584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78715785	chr3:43026624-43026625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182843075	chr3:43026632-43026633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186996173	chr3:43026685-43026686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563736987	chr3:43026730-43026731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386660545	chr3:43026742-43026743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6798520	chr3:43026743-43026744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs192193149	chr3:43026745-43026746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566067800	chr3:43026757-43026758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528447857	chr3:43026758-43026759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551401610	chr3:43026824-43026825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138966190	chr3:43026947-43026948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537151949	chr3:43026956-43026957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62249011	chr3:43026961-43026962	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs62249012	chr3:43026971-43026972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs36132109	chr3:43027004-43027005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs63201862	chr3:43027039-43027040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529781436	chr3:43027076-43027077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200165894	chr3:43027078-43027079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56195274	chr3:43027079-43027080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553279782	chr3:43027080-43027081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573220086	chr3:43027083-43027084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538630834	chr3:43027176-43027177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183539919	chr3:43027179-43027180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576870725	chr3:43027180-43027181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575367386	chr3:43027181-43027182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543999810	chr3:43027183-43027184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563871765	chr3:43027197-43027198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188287961	chr3:43027216-43027217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543235717	chr3:43027235-43027236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43021400-43030200	Weak transcription	Aorta	Aorta
2	chr3:43022000-43033000	Weak transcription	Pancreas	Pancrea
3	chr3:43022000-43037000	Weak transcription	Right Atrium	heart
4	chr3:43022200-43027600	Weak transcription	Placenta	Placenta
5	chr3:43022200-43032800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:43022400-43026800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:43022800-43027600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:43022800-43030000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:43023000-43037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:43023200-43029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:43023400-43026400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:43023400-43029600	Weak transcription	Liver	Liver
13	chr3:43024000-43026600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:43024000-43027400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:43024200-43026600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:43024200-43026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:43024200-43027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:43024200-43027400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:43024400-43027000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:43024800-43027000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:43025000-43026600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:43025400-43026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:43025600-43026400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:43025600-43026600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:43025800-43026000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:43025800-43026000	Enhancers	Ovary	ovary
27	chr3:43025800-43026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:43025800-43026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:43026000-43029600	Weak transcription	Ovary	ovary
30	chr3:43026000-43030000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:43026200-43026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:43026400-43026600	Enhancers	Stomach Smooth Muscle	stomach
33	chr3:43026600-43026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:43026600-43026800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:43026600-43027000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:43026600-43027000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:43026600-43028200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:43026600-43030400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:43026600-43032000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:43026600-43032400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:43026600-43032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:43026800-43027000	Enhancers	Brain Substantia Nigra	brain
43	chr3:43026800-43027400	Enhancers	Fetal Thymus	thymus
44	chr3:43026800-43027400	Enhancers	Thymus	Thymus
45	chr3:43026800-43029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:43026800-43030200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:43026800-43032400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:43027000-43027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:43027000-43027200	Enhancers	Stomach Smooth Muscle	stomach
50	chr3:43027000-43029800	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links