Variant report

Variant	nsv10344
Chromosome Location	chr3:162210267-162235802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:
2	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:

Extended variants
information (count: 174 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181980649	chr3:162210296-162210297	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548314647	chr3:162210344-162210345	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568538322	chr3:162210357-162210358	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537683919	chr3:162210360-162210361	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557284409	chr3:162210418-162210419	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78664662	chr3:162210421-162210422	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370829677	chr3:162210448-162210449	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539746744	chr3:162210468-162210469	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552908598	chr3:162210528-162210529	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78423027	chr3:162210550-162210551	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577831431	chr3:162210622-162210623	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541954570	chr3:162210658-162210659	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562244691	chr3:162210696-162210697	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575665833	chr3:162210714-162210715	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543575832	chr3:162210720-162210721	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555335562	chr3:162210752-162210753	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563479601	chr3:162210761-162210762	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371097426	chr3:162210762-162210763	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552547031	chr3:162210843-162210844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185055576	chr3:162210875-162210876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559389300	chr3:162210928-162210929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374504052	chr3:162210935-162210936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528119823	chr3:162210965-162210966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547960428	chr3:162211024-162211025	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569730101	chr3:162211068-162211069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142240911	chr3:162211073-162211074	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74883110	chr3:162211091-162211092	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551106033	chr3:162211110-162211111	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371091884	chr3:162211179-162211180	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539734301	chr3:162211240-162211241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189863939	chr3:162211245-162211246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556837213	chr3:162211287-162211288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151025195	chr3:162211321-162211322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78372236	chr3:162211328-162211329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374502264	chr3:162211387-162211388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139692290	chr3:162211404-162211405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555499071	chr3:162211454-162211455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2199604	chr3:162211481-162211482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62293966	chr3:162211492-162211493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60860408	chr3:162211502-162211503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3076250	chr3:162211503-162211504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397958506	chr3:162211504-162211505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386667702	chr3:162211505-162211506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542706863	chr3:162211518-162211519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28698022	chr3:162211524-162211525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74602861	chr3:162211572-162211573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546099217	chr3:162211603-162211604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144689687	chr3:162211620-162211621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545102643	chr3:162211663-162211664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553218592	chr3:162211694-162211695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162204800-162213000	Weak transcription	Dnd41	blood
2	chr3:162209600-162211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:162209800-162211000	Enhancers	Hela-S3	cervix
4	chr3:162209800-162211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:162209800-162211200	Enhancers	NH-A	brain
6	chr3:162209800-162211200	Enhancers	NHDF-Ad	bronchial
7	chr3:162210000-162210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162210000-162210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr3:162210000-162211600	Enhancers	HSMM	muscle
10	chr3:162210200-162210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:162210200-162210400	Flanking Active TSS	A549	lung
12	chr3:162210200-162210600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:162210200-162210600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:162210200-162210600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:162210200-162210600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:162210200-162210600	Flanking Active TSS	Osteobl	bone
17	chr3:162210200-162210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:162210200-162211200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:162210200-162211200	Enhancers	Fetal Heart	heart
20	chr3:162210200-162211200	Enhancers	HSMMtube	muscle
21	chr3:162210400-162210800	Active TSS	A549	lung
22	chr3:162210600-162211000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:162210600-162211000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:162210600-162211200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:162210600-162211200	Enhancers	Osteobl	bone
26	chr3:162210600-162212000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:162210800-162211400	Enhancers	A549	lung
28	chr3:162211000-162211200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:162211200-162212000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:162217200-162217400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:162224800-162226000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:162225000-162225800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:162225400-162225800	Enhancers	HSMM	muscle
34	chr3:162232600-162233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:162235200-162236000	Enhancers	Dnd41	blood

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