Variant report

Variant	nsv997877
Chromosome Location	chr3:28963576-29014754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:28982296..28985161-chr3:28989817..28992484,2	K562	blood:
2	chr3:28982296..28985161-chr3:28989817..28992484,2	K562	blood:
3	chr3:28991975..28993752-chr3:29008566..29010572,2	K562	blood:
4	chr15:73783487..73784303-chr3:28967494..28967994,2	MCF-7	breast:
5	chr3:28991975..28993752-chr3:29008566..29010572,2	K562	blood:
6	chr3:29013488..29016191-chr3:29026950..29029091,2	K562	blood:

Extended variants
information (count: 1646 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1646 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs952292	chr3:28963576-28963577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192607525	chr3:28963663-28963664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386659674	chr3:28963673-28963674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76466891	chr3:28963674-28963675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538145868	chr3:28963788-28963789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533823775	chr3:28963807-28963808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565798187	chr3:28963812-28963813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111657141	chr3:28963870-28963871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146290782	chr3:28963921-28963922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551401152	chr3:28963980-28963981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9812700	chr3:28963989-28963990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs60074488	chr3:28964136-28964137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139760878	chr3:28964152-28964153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144478708	chr3:28964232-28964233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146616616	chr3:28964248-28964249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545033589	chr3:28964289-28964290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565297207	chr3:28964296-28964297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182624031	chr3:28964311-28964312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74638278	chr3:28964378-28964379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553466373	chr3:28964390-28964391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372798685	chr3:28964419-28964420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72920927	chr3:28964452-28964453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114213921	chr3:28964455-28964456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532636548	chr3:28964466-28964467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116464489	chr3:28964467-28964468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376292435	chr3:28964523-28964524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576333064	chr3:28964524-28964525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532245894	chr3:28964539-28964540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544979026	chr3:28964547-28964548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201546236	chr3:28964554-28964555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199731034	chr3:28964555-28964556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551856378	chr3:28964564-28964565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186765851	chr3:28964577-28964578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191678067	chr3:28964591-28964592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548488648	chr3:28964603-28964604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6549899	chr3:28964685-28964686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537195693	chr3:28964720-28964721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184138707	chr3:28964733-28964734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557201962	chr3:28964756-28964757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570018065	chr3:28964796-28964797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4016429	chr3:28964801-28964802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
42	rs558809107	chr3:28964806-28964807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572387726	chr3:28964831-28964832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55779594	chr3:28964850-28964851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188788338	chr3:28964872-28964873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7619464	chr3:28964889-28964890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35863473	chr3:28964902-28964903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529393313	chr3:28964978-28964979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543571259	chr3:28965005-28965006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563558425	chr3:28965008-28965009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	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
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28958600-28966600	Weak transcription	Aorta	Aorta
2	chr3:28959600-28965200	Weak transcription	Psoas Muscle	Psoas
3	chr3:28959600-28966600	Weak transcription	NHLF	lung
4	chr3:28960000-28966200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:28965200-28965400	Enhancers	Psoas Muscle	Psoas
6	chr3:28966000-28966800	Enhancers	Hela-S3	cervix
7	chr3:28966000-28966800	Enhancers	NHDF-Ad	bronchial
8	chr3:28966200-28966800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:28966200-28966800	Enhancers	A549	lung
10	chr3:28966200-28967000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:28966400-28966800	Active TSS	Psoas Muscle	Psoas
12	chr3:28966400-28966800	Enhancers	HMEC	breast
13	chr3:28966400-28967000	Enhancers	Osteobl	bone
14	chr3:28966600-28966800	Enhancers	Aorta	Aorta
15	chr3:28966600-28966800	Enhancers	NHLF	lung
16	chr3:28969600-28970400	Enhancers	Fetal Lung	lung
17	chr3:28970400-28975800	Weak transcription	Fetal Lung	lung
18	chr3:28970800-28971600	Enhancers	Ovary	ovary
19	chr3:28972400-28972800	Enhancers	HUVEC	blood vessel
20	chr3:28975800-28976600	Enhancers	Fetal Lung	lung
21	chr3:28975800-28978200	Enhancers	GM12878-XiMat	blood
22	chr3:28976200-28978000	Enhancers	Primary T cells from cord blood	blood
23	chr3:28976200-28978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:28976600-28977000	Flanking Active TSS	Fetal Lung	lung
25	chr3:28976600-28977000	Enhancers	Right Atrium	heart
26	chr3:28976600-28977000	Enhancers	Dnd41	blood
27	chr3:28977000-28981400	Weak transcription	Fetal Lung	lung
28	chr3:28977000-28981600	Weak transcription	Dnd41	blood
29	chr3:28978000-28981400	Weak transcription	Primary T cells from cord blood	blood
30	chr3:28978000-28981800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:28979800-28980000	Enhancers	GM12878-XiMat	blood
32	chr3:28980000-28981200	Weak transcription	GM12878-XiMat	blood
33	chr3:28981000-28983200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:28981200-28981800	Enhancers	Ovary	ovary
35	chr3:28981200-28982200	Enhancers	GM12878-XiMat	blood
36	chr3:28981200-28982800	Enhancers	Primary B cells from peripheral blood	blood
37	chr3:28981400-28982200	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:28981400-28982600	Enhancers	Primary B cells from cord blood	blood
39	chr3:28981400-28982800	Enhancers	Primary T cells from cord blood	blood
40	chr3:28981400-28983200	Enhancers	Adipose Nuclei	Adipose
41	chr3:28981400-28983200	Enhancers	Brain Substantia Nigra	brain
42	chr3:28981400-28983200	Enhancers	Colon Smooth Muscle	Colon
43	chr3:28981400-28983200	Enhancers	Fetal Lung	lung
44	chr3:28981400-28983400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:28981600-28981800	Enhancers	Aorta	Aorta
46	chr3:28981600-28982000	Enhancers	Primary hematopoietic stem cells	blood
47	chr3:28981600-28982600	Enhancers	Fetal Kidney	kidney
48	chr3:28981600-28982800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:28981600-28982800	Enhancers	NHLF	lung
50	chr3:28981600-28983000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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