Variant report

Variant	nsv963258
Chromosome Location	chr3:48067808-48068915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48067946..48070956-chr3:48070996..48074815,4	K562	blood:
2	chr3:48068743..48070956-chr3:48072817..48074815,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181215039	chr3:48067812-48067813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544895829	chr3:48067924-48067925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374912004	chr3:48067951-48067952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549999845	chr3:48067983-48067984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560322617	chr3:48068008-48068009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562061419	chr3:48068137-48068138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565141400	chr3:48068150-48068151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571647466	chr3:48068216-48068217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199779881	chr3:48068266-48068267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4296617	chr3:48068308-48068309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs185437676	chr3:48068389-48068390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542748178	chr3:48068400-48068401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560962946	chr3:48068517-48068518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531337000	chr3:48068543-48068544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549757946	chr3:48068551-48068552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571987584	chr3:48068571-48068572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147502120	chr3:48068590-48068591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188191413	chr3:48068591-48068592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62260788	chr3:48068610-48068611	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181982402	chr3:48068618-48068619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554643900	chr3:48068629-48068630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537272369	chr3:48068665-48068666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187239153	chr3:48068697-48068698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537061070	chr3:48068757-48068758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558499514	chr3:48068851-48068852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77432274	chr3:48068858-48068859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48043800-48075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48043800-48075200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:48051200-48128000	Weak transcription	Primary B cells from cord blood	blood
4	chr3:48053600-48075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:48055600-48075200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:48056200-48076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:48058400-48082400	Weak transcription	Spleen	Spleen
8	chr3:48058800-48068400	Weak transcription	Small Intestine	intestine
9	chr3:48058800-48075600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:48058800-48080600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:48059200-48080600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:48059400-48075200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:48059600-48128800	Weak transcription	Primary T cells from cord blood	blood
14	chr3:48059800-48068400	Weak transcription	Right Ventricle	heart
15	chr3:48059800-48068800	Weak transcription	Right Atrium	heart
16	chr3:48059800-48090800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:48059800-48093600	Weak transcription	Gastric	stomach
18	chr3:48060000-48068400	Weak transcription	Liver	Liver
19	chr3:48060000-48075400	Weak transcription	Hela-S3	cervix
20	chr3:48060800-48088800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:48060800-48089400	Weak transcription	Dnd41	blood
22	chr3:48061200-48068400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:48061400-48068800	Weak transcription	Fetal Thymus	thymus
24	chr3:48061400-48068800	Weak transcription	HUVEC	blood vessel
25	chr3:48062000-48068000	Weak transcription	NHEK	skin
26	chr3:48062000-48068200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:48062000-48068200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:48062000-48068400	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:48062000-48068600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:48062000-48073200	Weak transcription	K562	blood
31	chr3:48062400-48069000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:48062400-48074800	Weak transcription	HSMM	muscle
33	chr3:48063800-48073200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:48064400-48071800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:48064400-48128800	Weak transcription	Esophagus	oesophagus
36	chr3:48064600-48074800	Weak transcription	GM12878-XiMat	blood
37	chr3:48065000-48074600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:48065200-48068400	Weak transcription	Brain Angular Gyrus	brain
39	chr3:48065200-48068400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:48065200-48068400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:48065200-48068400	Weak transcription	Ovary	ovary
42	chr3:48065200-48069000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:48065200-48069000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:48065200-48069200	Weak transcription	Osteobl	bone
45	chr3:48065200-48074600	Weak transcription	Adipose Nuclei	Adipose
46	chr3:48065200-48075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:48065200-48080600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:48065400-48068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:48065400-48068400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:48065400-48069200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links