Variant report

Variant	nsv979824
Chromosome Location	chr3:43079103-43080204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79002966	chr3:43079104-43079105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397971399	chr3:43079105-43079106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114159931	chr3:43079121-43079122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188632872	chr3:43079170-43079171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549470098	chr3:43079171-43079172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566154615	chr3:43079177-43079178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535153932	chr3:43079234-43079235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574609237	chr3:43079241-43079242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191363829	chr3:43079246-43079247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571397368	chr3:43079277-43079278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537307556	chr3:43079295-43079296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11129991	chr3:43079331-43079332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs496436	chr3:43079390-43079391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139132045	chr3:43079406-43079407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372513676	chr3:43079415-43079416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs660446	chr3:43079475-43079476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35232151	chr3:43079478-43079479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183723417	chr3:43079541-43079542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371555181	chr3:43079555-43079556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564338130	chr3:43079556-43079557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112418607	chr3:43079564-43079565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544058215	chr3:43079596-43079597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80235493	chr3:43079649-43079650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563848715	chr3:43079654-43079655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145136705	chr3:43079662-43079663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80134610	chr3:43079666-43079667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559823401	chr3:43079692-43079693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149111289	chr3:43079698-43079699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368596304	chr3:43079723-43079724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186605780	chr3:43079750-43079751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571380935	chr3:43079782-43079783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs521101	chr3:43079800-43079801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550827635	chr3:43079847-43079848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567427517	chr3:43079852-43079853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536176843	chr3:43079870-43079871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552541987	chr3:43079899-43079900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572552036	chr3:43079911-43079912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538306009	chr3:43079956-43079957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191837978	chr3:43079972-43079973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552277415	chr3:43080035-43080036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564832862	chr3:43080040-43080041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578102525	chr3:43080071-43080072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368679363	chr3:43080093-43080094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76550286	chr3:43080105-43080106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370067053	chr3:43080106-43080107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543632815	chr3:43080187-43080188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43059600-43084600	Weak transcription	Pancreas	Pancrea
2	chr3:43061000-43080200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:43063600-43084800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:43065400-43084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:43067600-43084000	Weak transcription	Aorta	Aorta
6	chr3:43070600-43084800	Weak transcription	Esophagus	oesophagus
7	chr3:43073400-43084600	Weak transcription	Brain Angular Gyrus	brain
8	chr3:43073400-43084600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:43073600-43084400	Weak transcription	Adipose Nuclei	Adipose
10	chr3:43074600-43084200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:43074800-43081200	Weak transcription	Fetal Intestine Small	intestine
12	chr3:43075200-43084200	Weak transcription	Ovary	ovary
13	chr3:43077200-43084400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:43077600-43084600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:43077800-43080000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:43078000-43079200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr3:43078400-43084200	Weak transcription	Placenta	Placenta
18	chr3:43078800-43084200	Weak transcription	Liver	Liver
19	chr3:43078800-43084400	Weak transcription	Fetal Stomach	stomach
20	chr3:43079000-43079400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr3:43079000-43080400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:43079000-43085400	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:43079200-43079600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:43079200-43080600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:43079200-43080600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:43079400-43080000	Enhancers	Primary T cells from cord blood	blood
27	chr3:43079400-43080000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:43079400-43080600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:43079600-43080200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:43080200-43091000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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