Variant report

Variant	nsv589287
Chromosome Location	chr3:269929-283747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 768 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17009028	chr3:269929-269930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546146787	chr3:269964-269965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542349861	chr3:269968-269969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367802184	chr3:269970-269971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559998626	chr3:269986-269987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116398979	chr3:270008-270009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528429331	chr3:270022-270023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187939939	chr3:270027-270028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17009045	chr3:270031-270032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529325929	chr3:270058-270059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142795469	chr3:270086-270087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568924196	chr3:270107-270108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192231813	chr3:270111-270112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74832221	chr3:270137-270138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184612926	chr3:270142-270143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139815023	chr3:270162-270163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4003420	chr3:270163-270164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533880867	chr3:270185-270186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554748386	chr3:270196-270197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561233619	chr3:270219-270220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555383817	chr3:270228-270229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187839266	chr3:270238-270239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192952681	chr3:270304-270305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114354357	chr3:270336-270337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184350928	chr3:270344-270345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546381790	chr3:270349-270350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146990372	chr3:270352-270353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189099846	chr3:270373-270374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370657987	chr3:270391-270392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561718639	chr3:270400-270401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181720814	chr3:270404-270405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138011183	chr3:270437-270438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143571725	chr3:270450-270451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557385297	chr3:270455-270456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184913259	chr3:270519-270520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3872649	chr3:270521-270522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566581829	chr3:270522-270523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527565079	chr3:270525-270526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549322009	chr3:270538-270539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376084426	chr3:270577-270578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201083297	chr3:270610-270611	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs190757702	chr3:270617-270618	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537851521	chr3:270619-270620	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs368253996	chr3:270648-270649	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532412652	chr3:270649-270650	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571317015	chr3:270683-270684	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370414431	chr3:270705-270706	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547821805	chr3:270709-270710	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538396589	chr3:270723-270724	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143958057	chr3:270740-270741	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:268400-271000	Weak transcription	Ovary	ovary
2	chr3:269200-270200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:269400-271200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:269600-271000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:270000-271800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:270200-270600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr3:270200-272200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:270200-272800	Enhancers	Brain Germinal Matrix	brain
9	chr3:270400-271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:270400-272000	Enhancers	HMEC	breast
11	chr3:270600-270800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:270600-271000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr3:270600-271000	Enhancers	NHEK	skin
14	chr3:270600-272000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:270800-271400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:270800-271800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:270800-272600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:271000-271200	Flanking Active TSS	Ovary	ovary
19	chr3:271000-271400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:271000-271400	Flanking Active TSS	NHEK	skin
21	chr3:271000-271600	Enhancers	Brain Anterior Caudate	brain
22	chr3:271000-271800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:271000-271800	Enhancers	Fetal Lung	lung
24	chr3:271000-272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:271000-272200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:271000-272200	Enhancers	Brain Hippocampus Middle	brain
27	chr3:271000-274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:271200-271600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:271200-271600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:271200-271600	Active TSS	Ovary	ovary
31	chr3:271200-272000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:271200-272400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:271400-271800	Enhancers	NHEK	skin
34	chr3:271400-272200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:271400-272600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:271600-272000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:271600-272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:271600-272200	Enhancers	Fetal Brain Male	brain
39	chr3:271600-276000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:271600-284800	Weak transcription	Ovary	ovary
41	chr3:271800-272200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:271800-272600	Enhancers	Fetal Brain Female	brain
43	chr3:271800-277400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:272000-272800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:272000-274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:272200-274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:272200-276000	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:272200-276200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:272200-283800	Weak transcription	Fetal Brain Male	brain
50	chr3:272600-274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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