Variant report

Variant	esv3461849
Chromosome Location	chr3:49517866-49518537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36117556	chr3:49517877-49517878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202046330	chr3:49517903-49517904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537396182	chr3:49517955-49517956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530165721	chr3:49517961-49517962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144935415	chr3:49517969-49517970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569685286	chr3:49517977-49517978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555223260	chr3:49517990-49517991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189427406	chr3:49518021-49518022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7653505	chr3:49518023-49518024	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534669679	chr3:49518079-49518080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539458483	chr3:49518092-49518093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149041516	chr3:49518100-49518101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376457554	chr3:49518257-49518258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182263824	chr3:49518287-49518288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71615484	chr3:49518299-49518300	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374291568	chr3:49518320-49518321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370897983	chr3:49518409-49518410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535501035	chr3:49518410-49518411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577841235	chr3:49518415-49518416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187289537	chr3:49518419-49518420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189366412	chr3:49518442-49518443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367895931	chr3:49518489-49518490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377764010	chr3:49518498-49518499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576357690	chr3:49518499-49518500	Weak transcription Strong transcription	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
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49509400-49520200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:49509600-49519000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:49509600-49522800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:49509600-49530800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:49509600-49537800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:49509800-49520800	Weak transcription	Ovary	ovary
7	chr3:49509800-49522800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:49509800-49522800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:49509800-49522800	Weak transcription	NHEK	skin
10	chr3:49509800-49523000	Weak transcription	Brain Substantia Nigra	brain
11	chr3:49509800-49531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:49509800-49537600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:49509800-49547800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:49510000-49520000	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:49510000-49520200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:49510000-49520800	Weak transcription	Right Atrium	heart
17	chr3:49510000-49521200	Weak transcription	HepG2	liver
18	chr3:49510000-49521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:49510000-49522800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:49510000-49523200	Weak transcription	Fetal Kidney	kidney
21	chr3:49510000-49526800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:49510000-49535600	Weak transcription	NHLF	lung
23	chr3:49510000-49547800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49510800-49518000	Strong transcription	Fetal Muscle Leg	muscle
25	chr3:49511000-49518800	Weak transcription	K562	blood
26	chr3:49511400-49518600	Strong transcription	Fetal Intestine Small	intestine
27	chr3:49511400-49522800	Weak transcription	Stomach Mucosa	stomach
28	chr3:49511800-49518200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:49514000-49519400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr3:49514200-49522000	Weak transcription	NHDF-Ad	bronchial
31	chr3:49514400-49518000	Strong transcription	Fetal Stomach	stomach
32	chr3:49514400-49518800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:49514400-49518800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:49514400-49519200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:49514400-49520000	Strong transcription	Fetal Thymus	thymus
36	chr3:49514400-49521200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:49514400-49522000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:49514400-49522800	Weak transcription	Osteobl	bone
39	chr3:49514400-49532400	Weak transcription	GM12878-XiMat	blood
40	chr3:49514600-49521800	Weak transcription	HSMM	muscle
41	chr3:49514600-49548000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:49514800-49532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:49515000-49519000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:49515000-49521800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:49515000-49532800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:49515000-49535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:49515200-49520800	Weak transcription	Psoas Muscle	Psoas
48	chr3:49515200-49521200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:49515200-49521800	Weak transcription	HMEC	breast
50	chr3:49515200-49522800	Weak transcription	Adipose Nuclei	Adipose

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