Variant report

Variant	esv3414786
Chromosome Location	chr3:51628711-51632506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373976372	chr3:51628819-51628820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543571255	chr3:51628877-51628878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529003162	chr3:51628919-51628920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71329062	chr3:51628938-51628939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182701755	chr3:51628966-51628967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199729560	chr3:51628983-51628984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376899047	chr3:51628986-51628987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111837230	chr3:51628993-51628994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200853380	chr3:51629005-51629006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371195408	chr3:51629018-51629019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117893071	chr3:51629029-51629030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71329063	chr3:51629066-51629067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531229743	chr3:51629080-51629081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552477032	chr3:51629084-51629085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367929680	chr3:51629097-51629098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145210273	chr3:51629139-51629140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534852370	chr3:51629175-51629176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553170182	chr3:51629215-51629216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71329064	chr3:51629254-51629255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563112986	chr3:51629273-51629274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553599806	chr3:51629314-51629315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185782241	chr3:51629366-51629367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79268571	chr3:51629398-51629399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557312997	chr3:51629431-51629432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575596322	chr3:51629437-51629438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140068981	chr3:51629472-51629473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143742773	chr3:51629474-51629475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146725717	chr3:51629533-51629534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540401813	chr3:51629537-51629538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561740003	chr3:51629541-51629542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140344008	chr3:51629579-51629580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544017449	chr3:51629625-51629626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145519266	chr3:51629730-51629731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532796350	chr3:51629862-51629863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550974148	chr3:51629883-51629884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564408643	chr3:51629911-51629912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368013943	chr3:51629929-51629930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371853707	chr3:51629934-51629935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374852633	chr3:51629937-51629938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369936838	chr3:51629947-51629948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372603185	chr3:51629949-51629950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377230951	chr3:51629952-51629953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200140512	chr3:51629953-51629954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369667444	chr3:51629955-51629956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370599952	chr3:51629961-51629962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75261504	chr3:51629966-51629967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374096926	chr3:51629974-51629975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528762444	chr3:51629997-51629998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546749574	chr3:51630038-51630039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377196052	chr3:51630041-51630042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51588000-51640000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:51600800-51654600	Weak transcription	Stomach Mucosa	stomach
3	chr3:51601200-51640000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:51602800-51643800	Weak transcription	Right Atrium	heart
5	chr3:51613200-51629400	Weak transcription	Fetal Lung	lung
6	chr3:51613200-51630800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:51613200-51640000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:51613400-51643600	Weak transcription	Pancreas	Pancrea
9	chr3:51615800-51630800	Weak transcription	Psoas Muscle	Psoas
10	chr3:51616600-51640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:51616800-51629000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:51619600-51631600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:51622600-51633000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:51622800-51631600	Strong transcription	Liver	Liver
15	chr3:51623000-51633000	Strong transcription	Primary T cells from cord blood	blood
16	chr3:51623200-51639800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:51623400-51631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:51623800-51630600	Weak transcription	Fetal Brain Male	brain
19	chr3:51623800-51631800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:51624200-51631600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:51624400-51631000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr3:51624400-51631800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:51625200-51630000	Weak transcription	Fetal Stomach	stomach
24	chr3:51625200-51630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:51625200-51631800	Weak transcription	NHLF	lung
26	chr3:51625200-51639400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:51625200-51640000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:51625200-51655400	Weak transcription	Gastric	stomach
29	chr3:51625400-51629000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:51625400-51630000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:51625400-51637400	Weak transcription	HMEC	breast
32	chr3:51625400-51640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:51625400-51641000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:51625400-51642200	Weak transcription	Brain Germinal Matrix	brain
35	chr3:51625400-51663400	Weak transcription	Right Ventricle	heart
36	chr3:51625600-51629000	Weak transcription	Spleen	Spleen
37	chr3:51625600-51630800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:51625600-51631400	Weak transcription	Fetal Heart	heart
39	chr3:51625600-51631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:51625600-51639800	Weak transcription	Thymus	Thymus
41	chr3:51625600-51642600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:51625600-51643400	Weak transcription	Esophagus	oesophagus
43	chr3:51625600-51654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:51625600-51654000	Weak transcription	Ovary	ovary
45	chr3:51625600-51655400	Weak transcription	Aorta	Aorta
46	chr3:51625600-51658200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:51625800-51628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:51625800-51629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:51625800-51629000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:51625800-51629000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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