Variant report

Variant	nsv967084
Chromosome Location	chr3:161163639-161183247
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161088646..161092186-chr3:161167845..161170066,3	MCF-7	breast:
2	chr3:161153934..161156092-chr3:161162530..161165225,2	MCF-7	breast:
3	chr3:161172276..161174982-chr3:161177335..161179468,2	MCF-7	breast:
4	chr3:161088423..161092396-chr3:161159740..161164169,5	MCF-7	breast:
5	chr3:161182193..161184879-chr3:161185126..161188257,3	MCF-7	breast:
6	chr3:161157860..161160581-chr3:161168208..161171597,3	MCF-7	breast:
7	chr3:161159586..161162271-chr3:161162430..161165084,3	MCF-7	breast:
8	chr3:161163174..161165677-chr3:161166380..161168356,2	MCF-7	breast:
9	chr3:161161864..161163648-chr3:161163998..161165965,2	MCF-7	breast:
10	chr3:161160203..161162184-chr3:161166453..161168231,2	MCF-7	breast:
11	chr3:161172276..161174982-chr3:161177335..161179468,2	MCF-7	breast:
12	chr3:161161602..161163726-chr3:161192340..161193989,2	MCF-7	breast:
13	chr3:161163174..161165677-chr3:161166380..161168356,2	MCF-7	breast:
14	chr3:161137896..161142184-chr3:161162436..161166379,4	MCF-7	breast:
15	chr3:161167642..161168268-chr3:161276756..161277746,3	MCF-7	breast:
16	chr3:161161864..161163648-chr3:161163998..161165965,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 272 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189953464	chr3:161163656-161163657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528293451	chr3:161163666-161163667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148037255	chr3:161163673-161163674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370019668	chr3:161163731-161163732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376216054	chr3:161163836-161163837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561363008	chr3:161163856-161163857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539604404	chr3:161163871-161163872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141718638	chr3:161163893-161163894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529206994	chr3:161163903-161163904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75884315	chr3:161163937-161163938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549139316	chr3:161163950-161163951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530028020	chr3:161164014-161164015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76517722	chr3:161164015-161164016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551913011	chr3:161164070-161164071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181481426	chr3:161164110-161164111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559099548	chr3:161164121-161164122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577386597	chr3:161164143-161164144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532073808	chr3:161167965-161167966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146545465	chr3:161168055-161168056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559039240	chr3:161168059-161168060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528084107	chr3:161168151-161168152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547820495	chr3:161168172-161168173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567996837	chr3:161168179-161168180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536975924	chr3:161168180-161168181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115927603	chr3:161168183-161168184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570329807	chr3:161168203-161168204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573642084	chr3:161168247-161168248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534960681	chr3:161168355-161168356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553439276	chr3:161168358-161168359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141167392	chr3:161168391-161168392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1597494	chr3:161168401-161168402	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555832756	chr3:161168433-161168434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575989193	chr3:161168441-161168442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367742950	chr3:161168475-161168476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs202061800	chr3:161168501-161168502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs180831914	chr3:161168522-161168523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564628538	chr3:161168534-161168535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs578125796	chr3:161168641-161168642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150380995	chr3:161168650-161168651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186288116	chr3:161168686-161168687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528206376	chr3:161168690-161168691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541402170	chr3:161168734-161168735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554543450	chr3:161168771-161168772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530684697	chr3:161168983-161168984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs61000368	chr3:161168991-161168992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373399124	chr3:161168998-161168999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568080101	chr3:161168999-161169000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570508701	chr3:161169038-161169039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533147393	chr3:161169039-161169040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371744649	chr3:161169042-161169043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161169400-161170400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:161170200-161170400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:161170200-161170600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:161170200-161170600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
5	chr3:161170400-161171800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:161170400-161171800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:161170600-161172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:161171800-161172000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:161171800-161173200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:161171800-161173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:161172000-161172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:161172200-161172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:161172400-161172800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:161172800-161173000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:161182000-161182600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:161182200-161182600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:161182600-161185400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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