Variant report

Variant	nsv876290
Chromosome Location	chr3:283176-320201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:297411..299702-chr3:300779..302869,2	K562	blood:
2	chr3:291331..293955-chr3:294697..297452,2	MCF-7	breast:
3	chr3:297411..299702-chr3:300779..302869,2	K562	blood:
4	chr3:291331..293955-chr3:294697..297452,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087561
2	lnc-CNTN6-7	chr3:288251-290282	NONHSAT087561
3	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087560
4	lnc-CNTN6-7	chr3:288251-288539	NONHSAT087560

No data

Extended variants
information (count: 2043 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2043 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs465963	chr3:283176-283177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6767755	chr3:283189-283190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560908651	chr3:283200-283201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192023226	chr3:283214-283215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73090653	chr3:283239-283240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182729869	chr3:283246-283247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201276966	chr3:283266-283267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375108808	chr3:283267-283268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78174578	chr3:283268-283269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58013089	chr3:283271-283272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569257990	chr3:283273-283274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397963992	chr3:283278-283279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13064013	chr3:283284-283285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs187610160	chr3:283291-283292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17012331	chr3:283326-283327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113674886	chr3:283364-283365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578186308	chr3:283366-283367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150985895	chr3:283392-283393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573880224	chr3:283406-283407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192837728	chr3:283407-283408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4684335	chr3:283415-283416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs111487345	chr3:283431-283432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544655848	chr3:283449-283450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560116151	chr3:283450-283451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560339167	chr3:283468-283469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62228325	chr3:283473-283474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555707923	chr3:283506-283507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557146580	chr3:283523-283524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs460765	chr3:283555-283556	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs72352263	chr3:283556-283557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575336356	chr3:283560-283561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376215553	chr3:283581-283582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75118310	chr3:283582-283583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556212075	chr3:283675-283676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111752321	chr3:283676-283677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540156899	chr3:283733-283734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373741422	chr3:283736-283737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17271940	chr3:283747-283748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs34082438	chr3:283807-283808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4684336	chr3:283808-283809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs73020846	chr3:283828-283829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574224071	chr3:283831-283832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542868572	chr3:283837-283838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59114139	chr3:283850-283851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4685490	chr3:283854-283855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556420262	chr3:283876-283877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148488519	chr3:283887-283888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144094031	chr3:283935-283936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111422896	chr3:283953-283954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572011793	chr3:283960-283961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:271600-284800	Weak transcription	Ovary	ovary
2	chr3:272200-283800	Weak transcription	Fetal Brain Male	brain
3	chr3:272600-284400	Weak transcription	Fetal Brain Female	brain
4	chr3:276600-284400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:282800-283200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:283000-283200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:283000-283200	Enhancers	Brain Germinal Matrix	brain
8	chr3:283200-284400	Weak transcription	Fetal Lung	lung
9	chr3:283200-284600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:283200-285000	Weak transcription	Brain Germinal Matrix	brain
11	chr3:283200-290800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:283800-284600	Enhancers	Fetal Brain Male	brain
13	chr3:284200-285400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:284400-284800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:284400-284800	Enhancers	Brain Hippocampus Middle	brain
16	chr3:284400-285000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:284400-285000	Enhancers	Brain Anterior Caudate	brain
18	chr3:284400-285200	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:284400-285200	Enhancers	Brain Substantia Nigra	brain
20	chr3:284400-285200	Enhancers	Right Atrium	heart
21	chr3:284400-285200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:284400-285400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:284400-285800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:284400-285800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:284400-286000	Enhancers	Fetal Lung	lung
26	chr3:284400-286200	Enhancers	Fetal Brain Female	brain
27	chr3:284400-286600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:284600-284800	Flanking Active TSS	Fetal Brain Male	brain
29	chr3:284600-285200	Enhancers	Colon Smooth Muscle	Colon
30	chr3:284600-285400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:284600-286000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:284600-286000	Enhancers	NH-A	brain
33	chr3:284600-286200	Enhancers	Fetal Muscle Leg	muscle
34	chr3:284800-285000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:284800-285000	Enhancers	Fetal Brain Male	brain
36	chr3:284800-285200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:284800-285200	Enhancers	Brain Angular Gyrus	brain
38	chr3:284800-285600	Enhancers	Adipose Nuclei	Adipose
39	chr3:284800-286200	Enhancers	Ovary	ovary
40	chr3:285000-285200	Flanking Active TSS	Fetal Brain Male	brain
41	chr3:285000-285200	Enhancers	Psoas Muscle	Psoas
42	chr3:285000-285400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:285000-286600	Enhancers	Brain Germinal Matrix	brain
44	chr3:285200-285800	Enhancers	Fetal Brain Male	brain
45	chr3:285200-286000	Weak transcription	Brain Angular Gyrus	brain
46	chr3:285200-290600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:285400-285800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:285400-286000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:285400-289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:285400-290800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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