Variant report

Variant	nsv592129
Chromosome Location	chr3:160681614-160684597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160683839..160685876-chr3:160685916..160688095,2	K562	blood:
2	chr3:160680508..160683340-chr3:160683641..160685438,2	MCF-7	breast:
3	chr3:160680508..160683340-chr3:160683641..160685438,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1562464	chr3:160681614-160681615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571543549	chr3:160681632-160681633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16831667	chr3:160681644-160681645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190257135	chr3:160681688-160681689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7356038	chr3:160681716-160681717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368190556	chr3:160681717-160681718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7356039	chr3:160681722-160681723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571074247	chr3:160681730-160681731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531623053	chr3:160681771-160681772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150262270	chr3:160681891-160681892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112490452	chr3:160681940-160681941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534304478	chr3:160681970-160681971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554197059	chr3:160681980-160681981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1447608	chr3:160682019-160682020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs138903901	chr3:160682055-160682056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556469888	chr3:160682058-160682059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557131390	chr3:160682079-160682080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62280331	chr3:160682092-160682093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545273212	chr3:160682094-160682095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145984260	chr3:160682103-160682104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77094903	chr3:160682106-160682107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557350693	chr3:160682111-160682112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541601978	chr3:160682182-160682183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577181541	chr3:160682187-160682188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539946369	chr3:160682191-160682192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74596047	chr3:160682221-160682222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533842907	chr3:160682328-160682329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542844322	chr3:160682330-160682331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185651286	chr3:160682409-160682410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115250037	chr3:160682415-160682416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531661458	chr3:160682435-160682436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551666985	chr3:160682443-160682444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149392108	chr3:160682499-160682500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1868109	chr3:160682500-160682501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs547471987	chr3:160682526-160682527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375526123	chr3:160682595-160682596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11709802	chr3:160682599-160682600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115516169	chr3:160682600-160682601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190583735	chr3:160682618-160682619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180817720	chr3:160682619-160682620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185454502	chr3:160682623-160682624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372069184	chr3:160682627-160682628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572404505	chr3:160682635-160682636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539884914	chr3:160682650-160682651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144739274	chr3:160682664-160682665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573710843	chr3:160682699-160682700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114633880	chr3:160682713-160682714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545329832	chr3:160682770-160682771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531494553	chr3:160682802-160682803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112833956	chr3:160682819-160682820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160667400-160696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:160670200-160686600	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:160670400-160686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:160670400-160700400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:160670600-160682200	Weak transcription	Left Ventricle	heart
6	chr3:160678400-160697600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:160679000-160686600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:160680000-160683600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:160680000-160684400	Weak transcription	Dnd41	blood
10	chr3:160681000-160686600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:160681600-160684800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:160682200-160682400	Strong transcription	Left Ventricle	heart
13	chr3:160682400-160686600	Weak transcription	Left Ventricle	heart
14	chr3:160683600-160684800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:160683800-160687000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:160684400-160684600	ZNF genes & repeats	Dnd41	blood
17	chr3:160684400-160685200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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