Variant report

Variant	esv2536613
Chromosome Location	chr3:115775237-115776396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530736340	chr3:115775248-115775249	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187259656	chr3:115775257-115775258	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567403809	chr3:115775303-115775304	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536599353	chr3:115775328-115775329	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs6778817	chr3:115775346-115775347	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs147700555	chr3:115775349-115775350	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76327259	chr3:115775353-115775354	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538908972	chr3:115775425-115775426	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4831227	chr3:115775454-115775455	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140988370	chr3:115775458-115775459	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536896959	chr3:115775477-115775478	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192013018	chr3:115775672-115775673	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs386664874	chr3:115775675-115775676	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540243280	chr3:115775706-115775707	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs150360577	chr3:115775764-115775765	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs577326756	chr3:115775847-115775848	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35780065	chr3:115775912-115775913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534398997	chr3:115775927-115775928	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563579454	chr3:115775931-115775932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530724113	chr3:115775937-115775938	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182071663	chr3:115776158-115776159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114053044	chr3:115776218-115776219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71323425	chr3:115776219-115776220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377010294	chr3:115776222-115776223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546391306	chr3:115776327-115776328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1920385	chr3:115776350-115776351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186642155	chr3:115776389-115776390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115759000-115778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:115766000-115775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:115766200-115794200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:115770400-115775800	Weak transcription	HMEC	breast
5	chr3:115770400-115777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:115773800-115776400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:115774800-115776200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:115775000-115776200	Flanking Active TSS	GM12878-XiMat	blood
9	chr3:115775800-115776200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:115775800-115776400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr3:115775800-115776600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:115775800-115779400	Enhancers	HMEC	breast
13	chr3:115776200-115776400	Enhancers	K562	blood
14	chr3:115776200-115776800	Enhancers	GM12878-XiMat	blood
15	chr3:115776200-115777200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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