Variant report

Variant	esv3434201
Chromosome Location	chr3:43070570-43071102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538458819	chr3:43070585-43070586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555217840	chr3:43070595-43070596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2001682	chr3:43070596-43070597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372774254	chr3:43070597-43070598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540957975	chr3:43070612-43070613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535133688	chr3:43070660-43070661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553873445	chr3:43070709-43070710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375976464	chr3:43070720-43070721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs870238	chr3:43070766-43070767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188970872	chr3:43070788-43070789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs704903	chr3:43070847-43070848	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs150350848	chr3:43070860-43070861	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115276314	chr3:43070875-43070876	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368045350	chr3:43070985-43070986	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541571583	chr3:43070989-43070990	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138074708	chr3:43071048-43071049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142290835	chr3:43071056-43071057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372954909	chr3:43071087-43071088	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43053600-43073200	Weak transcription	Right Atrium	heart
2	chr3:43059600-43074400	Weak transcription	Lung	lung
3	chr3:43059600-43084600	Weak transcription	Pancreas	Pancrea
4	chr3:43061000-43072200	Weak transcription	Liver	Liver
5	chr3:43061000-43080200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:43061800-43073000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:43063000-43077400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:43063400-43072000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:43063600-43072600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:43063600-43084800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:43064000-43077800	Weak transcription	Brain Substantia Nigra	brain
12	chr3:43065200-43072400	Weak transcription	Placenta	Placenta
13	chr3:43065400-43084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:43067400-43076200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:43067600-43070800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:43067600-43084000	Weak transcription	Aorta	Aorta
17	chr3:43067800-43071000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr3:43067800-43071000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:43067800-43074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:43068000-43070800	Weak transcription	Fetal Thymus	thymus
21	chr3:43068200-43071200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:43068200-43076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:43068800-43070800	Weak transcription	Primary T cells from cord blood	blood
24	chr3:43069600-43071200	Enhancers	Stomach Mucosa	stomach
25	chr3:43069600-43071600	Enhancers	Fetal Intestine Small	intestine
26	chr3:43069800-43071000	Enhancers	Fetal Intestine Large	intestine
27	chr3:43070000-43071200	Enhancers	Gastric	stomach
28	chr3:43070200-43070600	Enhancers	Esophagus	oesophagus
29	chr3:43070200-43072600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr3:43070600-43084800	Weak transcription	Esophagus	oesophagus
31	chr3:43070800-43071000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:43070800-43071000	Enhancers	Ovary	ovary
33	chr3:43070800-43071200	Enhancers	Fetal Thymus	thymus
34	chr3:43070800-43072000	Enhancers	Primary T cells from cord blood	blood
35	chr3:43071000-43071400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:43071000-43072000	Weak transcription	Fetal Intestine Large	intestine
37	chr3:43071000-43072200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr3:43071000-43072800	Weak transcription	Ovary	ovary
39	chr3:43071000-43073600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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