Variant report

Variant	nsv1012378
Chromosome Location	chr3:285287-319977
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	chr3:291331..293955-chr3:294697..297452,2	MCF-7	breast:
2	chr3:297411..299702-chr3:300779..302869,2	K562	blood:
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	NONHSAT087560
2	lnc-CNTN6-7	chr3:288251-288539	NONHSAT087560
3	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087561
4	lnc-CNTN6-7	chr3:288251-290282	NONHSAT087561

No data

Extended variants
information (count: 1837 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1837 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17331520	chr3:285287-285288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571025486	chr3:285295-285296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78303127	chr3:285296-285297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371558169	chr3:285310-285311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs455635	chr3:285316-285317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs574502895	chr3:285324-285325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541861532	chr3:285343-285344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190740677	chr3:285364-285365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139904814	chr3:285434-285435	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545663637	chr3:285450-285451	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547021137	chr3:285461-285462	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564320388	chr3:285499-285500	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528346122	chr3:285529-285530	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540535501	chr3:285568-285569	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs459980	chr3:285569-285570	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143397377	chr3:285572-285573	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541958549	chr3:285573-285574	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3915678	chr3:285580-285581	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375665308	chr3:285588-285589	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144488711	chr3:285591-285592	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17012641	chr3:285596-285597	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553934982	chr3:285615-285616	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534967497	chr3:285649-285650	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546880570	chr3:285739-285740	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568462817	chr3:285764-285765	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535435583	chr3:285765-285766	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17012651	chr3:285783-285784	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34516154	chr3:285789-285790	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397949669	chr3:285790-285791	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78177816	chr3:285801-285802	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17012663	chr3:285806-285807	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73090662	chr3:285851-285852	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573001707	chr3:285870-285871	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553374971	chr3:285889-285890	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142509349	chr3:285893-285894	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191207672	chr3:285931-285932	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576689039	chr3:285935-285936	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574900187	chr3:285957-285958	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150942388	chr3:285958-285959	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544196482	chr3:285985-285986	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183661734	chr3:286008-286009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532844085	chr3:286009-286010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9813769	chr3:286023-286024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115054403	chr3:286026-286027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369477530	chr3:286047-286048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547959850	chr3:286048-286049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188446295	chr3:286066-286067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568399342	chr3:286073-286074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141969986	chr3:286119-286120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144898094	chr3:286141-286142	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:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:283200-290800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:284200-285400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:284400-285400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:284400-285800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:284400-285800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:284400-286000	Enhancers	Fetal Lung	lung
7	chr3:284400-286200	Enhancers	Fetal Brain Female	brain
8	chr3:284400-286600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:284600-285400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:284600-286000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:284600-286000	Enhancers	NH-A	brain
12	chr3:284600-286200	Enhancers	Fetal Muscle Leg	muscle
13	chr3:284800-285600	Enhancers	Adipose Nuclei	Adipose
14	chr3:284800-286200	Enhancers	Ovary	ovary
15	chr3:285000-285400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:285000-286600	Enhancers	Brain Germinal Matrix	brain
17	chr3:285200-285800	Enhancers	Fetal Brain Male	brain
18	chr3:285200-286000	Weak transcription	Brain Angular Gyrus	brain
19	chr3:285200-290600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:285400-285800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:285400-286000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:285400-289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:285400-290800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:285400-307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:285800-286000	Enhancers	Psoas Muscle	Psoas
26	chr3:285800-289200	Weak transcription	Fetal Brain Male	brain
27	chr3:286000-286200	Enhancers	Brain Angular Gyrus	brain
28	chr3:286000-286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:286000-287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:286000-289400	Weak transcription	Fetal Lung	lung
31	chr3:286200-288800	Weak transcription	Fetal Brain Female	brain
32	chr3:286200-288800	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:286200-315400	Weak transcription	Ovary	ovary
34	chr3:286600-289400	Weak transcription	Brain Germinal Matrix	brain
35	chr3:286600-290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:287400-287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:288800-289400	Enhancers	Fetal Muscle Leg	muscle
38	chr3:288800-291400	Enhancers	Fetal Brain Female	brain
39	chr3:289200-289800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:289200-289800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:289200-291200	Enhancers	Fetal Brain Male	brain
42	chr3:289400-290800	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:289400-291400	Enhancers	Fetal Lung	lung
44	chr3:289400-291800	Enhancers	Brain Germinal Matrix	brain
45	chr3:289600-291600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:289800-296400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:290400-291400	Enhancers	Fetal Kidney	kidney
48	chr3:290600-291400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:290600-291600	Enhancers	HepG2	liver
50	chr3:290600-291800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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