Variant report

Variant	nsv822262
Chromosome Location	chr3:134623349-134628638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142960802	chr3:134623352-134623353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs151041436	chr3:134623357-134623358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543820100	chr3:134623395-134623396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184543779	chr3:134623412-134623413	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs16842244	chr3:134623417-134623418	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539998218	chr3:134623487-134623488	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537381388	chr3:134623501-134623502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560725083	chr3:134623513-134623514	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139282499	chr3:134623514-134623515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77701834	chr3:134623515-134623516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529474829	chr3:134623537-134623538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140915959	chr3:134623540-134623541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563199632	chr3:134623578-134623579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201539360	chr3:134623646-134623647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376795393	chr3:134623647-134623648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10935141	chr3:134623700-134623701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551783975	chr3:134623726-134623727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190481416	chr3:134623734-134623735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143827678	chr3:134623737-134623738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145057505	chr3:134623783-134623784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146815209	chr3:134623843-134623844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140570118	chr3:134623940-134623941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181751761	chr3:134623956-134623957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535311780	chr3:134623969-134623970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552860060	chr3:134623971-134623972	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572538416	chr3:134624008-134624009	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555208439	chr3:134624017-134624018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78685072	chr3:134624020-134624021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs39707	chr3:134624047-134624048	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541146195	chr3:134624072-134624073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373603858	chr3:134624116-134624117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373046794	chr3:134624117-134624118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186927367	chr3:134624129-134624130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115934067	chr3:134624136-134624137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554995080	chr3:134624137-134624138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79674349	chr3:134624164-134624165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543364705	chr3:134624172-134624173	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs386666138	chr3:134624187-134624188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76663107	chr3:134624188-134624189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145427562	chr3:134624217-134624218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532021643	chr3:134624251-134624252	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545764599	chr3:134624252-134624253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138017891	chr3:134624296-134624297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527687625	chr3:134624306-134624307	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547839659	chr3:134624321-134624322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567668935	chr3:134624337-134624338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532631559	chr3:134624343-134624344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs72986023	chr3:134624410-134624411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149540000	chr3:134624441-134624442	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568755765	chr3:134624449-134624450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134615800-134624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:134619400-134624600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:134620800-134624200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:134621000-134624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:134621800-134624600	Enhancers	Fetal Stomach	stomach
6	chr3:134621800-134625000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:134621800-134625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:134622000-134624400	Enhancers	Brain Anterior Caudate	brain
9	chr3:134622000-134624400	Enhancers	Brain Hippocampus Middle	brain
10	chr3:134622000-134624400	Enhancers	Psoas Muscle	Psoas
11	chr3:134622000-134625800	Enhancers	Brain Germinal Matrix	brain
12	chr3:134622000-134625800	Enhancers	Fetal Brain Male	brain
13	chr3:134622200-134623400	Enhancers	Pancreas	Pancrea
14	chr3:134622200-134623600	Weak transcription	Fetal Heart	heart
15	chr3:134622200-134624600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:134622400-134624800	Enhancers	Fetal Thymus	thymus
17	chr3:134622600-134623600	Enhancers	Thymus	Thymus
18	chr3:134622600-134624600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:134622600-134624800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:134622600-134624800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:134622600-134624800	Enhancers	Fetal Brain Female	brain
22	chr3:134622600-134624800	Flanking Active TSS	GM12878-XiMat	blood
23	chr3:134622800-134623400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:134622800-134623600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:134622800-134623600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:134622800-134623600	Enhancers	Fetal Lung	lung
27	chr3:134622800-134623800	Enhancers	NH-A	brain
28	chr3:134622800-134624400	Enhancers	Rectal Smooth Muscle	rectum
29	chr3:134622800-134624400	Flanking Active TSS	Dnd41	blood
30	chr3:134622800-134624800	Enhancers	Fetal Muscle Leg	muscle
31	chr3:134623000-134623800	Enhancers	HSMMtube	muscle
32	chr3:134623000-134624400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:134623000-134624400	Enhancers	Colon Smooth Muscle	Colon
34	chr3:134623000-134624400	Enhancers	Fetal Muscle Trunk	muscle
35	chr3:134623000-134624400	Enhancers	Right Ventricle	heart
36	chr3:134623000-134624600	Enhancers	Left Ventricle	heart
37	chr3:134623000-134624600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:134623200-134624000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:134623200-134624600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:134623400-134624000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:134623600-134623800	Enhancers	Fetal Heart	heart
42	chr3:134623600-134624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:134623600-134624000	Enhancers	Brain Substantia Nigra	brain
44	chr3:134623800-134624000	Enhancers	Right Atrium	heart
45	chr3:134623800-134624200	Weak transcription	Fetal Heart	heart
46	chr3:134624000-134624600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:134624200-134624600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:134624200-134624600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:134624200-134624600	Enhancers	Fetal Heart	heart
50	chr3:134624200-134624800	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links