Variant report

Variant	esv3431590
Chromosome Location	chr3:46532894-46533459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46530210..46534355-chr3:46597750..46601064,4	K562	blood:
2	chr3:46532500..46536089-chr3:46537478..46540838,3	K562	blood:
3	chr3:46530490..46532908-chr3:46536819..46540385,3	K562	blood:
4	chr3:46531010..46533398-chr3:46589733..46592357,3	K562	blood:
5	chr3:46530210..46534355-chr3:46598500..46601064,4	K562	blood:

Variant related genes	Relation type
ENSG00000163825	chromatin interactions
ENSG00000264306	chromatin interactions
ENSG00000268324	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532378730	chr3:46532940-46532941	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs535926832	chr3:46532964-46532965	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs558470268	chr3:46533047-46533048	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs187722186	chr3:46533083-46533084	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148086423	chr3:46533105-46533106	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570238577	chr3:46533127-46533128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115231885	chr3:46533143-46533144	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192746914	chr3:46533144-46533145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs34194792	chr3:46533230-46533231	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537481796	chr3:46533262-46533263	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113945314	chr3:46533289-46533290	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146063186	chr3:46533383-46533384	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571223548	chr3:46533395-46533396	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs76095015	chr3:46533410-46533411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183741200	chr3:46533439-46533440	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs67222447	chr3:46533447-46533448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46529400-46534200	Enhancers	Dnd41	blood
2	chr3:46530200-46533800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:46530400-46533000	Enhancers	NHDF-Ad	bronchial
4	chr3:46530400-46533400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:46530400-46533600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:46530400-46533800	Enhancers	HSMM	muscle
7	chr3:46530400-46534200	Enhancers	Osteobl	bone
8	chr3:46530600-46533200	Enhancers	HSMMtube	muscle
9	chr3:46530800-46533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:46530800-46535000	Enhancers	Liver	Liver
11	chr3:46530800-46535200	Enhancers	K562	blood
12	chr3:46530800-46538600	Weak transcription	Pancreas	Pancrea
13	chr3:46531000-46533400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:46531000-46534000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:46531000-46534600	Weak transcription	Fetal Intestine Large	intestine
16	chr3:46531000-46538400	Weak transcription	Lung	lung
17	chr3:46531200-46533000	Weak transcription	NHEK	skin
18	chr3:46531200-46541600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:46531400-46533000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:46531400-46537400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:46531400-46537400	Weak transcription	Spleen	Spleen
22	chr3:46531400-46540200	Weak transcription	Left Ventricle	heart
23	chr3:46531600-46533200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:46531600-46537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:46531600-46537200	Weak transcription	Fetal Thymus	thymus
26	chr3:46531600-46537400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:46531800-46537200	Weak transcription	NH-A	brain
28	chr3:46532200-46533600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:46532200-46534400	Enhancers	Fetal Muscle Leg	muscle
30	chr3:46532400-46533000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:46532400-46533600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:46532400-46538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:46532400-46538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:46532600-46533000	Enhancers	Psoas Muscle	Psoas
35	chr3:46532600-46533000	Enhancers	Right Ventricle	heart
36	chr3:46532600-46533200	Enhancers	Stomach Mucosa	stomach
37	chr3:46532600-46533400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:46532600-46533600	Enhancers	HMEC	breast
39	chr3:46532800-46533000	Enhancers	NHLF	lung
40	chr3:46532800-46534000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:46532800-46534200	Weak transcription	Right Atrium	heart
42	chr3:46532800-46537200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:46532800-46538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:46533000-46533200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:46533000-46533400	Weak transcription	NHDF-Ad	bronchial
46	chr3:46533000-46533600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:46533000-46533600	Enhancers	NHEK	skin
48	chr3:46533000-46537200	Weak transcription	NHLF	lung
49	chr3:46533000-46538400	Weak transcription	Right Ventricle	heart
50	chr3:46533000-46544200	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links