Variant report

Variant	esv13809
Chromosome Location	chr3:69873735-69874204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69872958..69874845-chr3:69892360..69894536,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9838601	chr3:69873784-69873785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9862205	chr3:69873830-69873831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142801365	chr3:69873871-69873872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151231429	chr3:69873891-69873892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186121757	chr3:69873892-69873893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573084176	chr3:69873899-69873900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373419666	chr3:69873901-69873902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565193677	chr3:69873949-69873950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9858495	chr3:69874018-69874019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190580606	chr3:69874022-69874023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560938772	chr3:69874045-69874046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75514351	chr3:69874053-69874054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9839093	chr3:69874060-69874061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183468908	chr3:69874093-69874094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9839120	chr3:69874108-69874109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551522607	chr3:69874156-69874157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67665774	chr3:69874185-69874186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374148446	chr3:69874188-69874189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs398091540	chr3:69874189-69874190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Malignant glioma	16001072	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69868200-69875000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:69869000-69879000	Weak transcription	Right Atrium	heart
3	chr3:69869200-69879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:69869200-69879400	Weak transcription	Pancreas	Pancrea
5	chr3:69870200-69886000	Weak transcription	Aorta	Aorta
6	chr3:69870600-69886200	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:69870800-69878800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:69871200-69873800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:69871400-69873800	Enhancers	NHLF	lung
10	chr3:69871800-69877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:69871800-69877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:69871800-69877800	Weak transcription	Fetal Heart	heart
13	chr3:69872400-69873800	Weak transcription	Adipose Nuclei	Adipose
14	chr3:69872400-69873800	Enhancers	NHDF-Ad	bronchial
15	chr3:69873000-69874000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:69873200-69875000	Enhancers	Brain Hippocampus Middle	brain
17	chr3:69873200-69876400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:69873400-69874600	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:69873400-69874800	Enhancers	Brain Substantia Nigra	brain
20	chr3:69873600-69874000	Enhancers	Ovary	ovary
21	chr3:69873600-69874000	Enhancers	Psoas Muscle	Psoas
22	chr3:69873600-69874200	Enhancers	Left Ventricle	heart
23	chr3:69873600-69874200	Enhancers	Right Ventricle	heart
24	chr3:69873600-69874200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:69873800-69874200	Enhancers	Adipose Nuclei	Adipose
26	chr3:69873800-69874800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:69873800-69887600	Weak transcription	NHLF	lung
28	chr3:69874000-69876200	Weak transcription	Psoas Muscle	Psoas
29	chr3:69874000-69881000	Weak transcription	Ovary	ovary
30	chr3:69874200-69874600	Weak transcription	Right Ventricle	heart
31	chr3:69874200-69877000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:69874200-69879000	Weak transcription	Left Ventricle	heart

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