Variant report

Variant	nsv1012151
Chromosome Location	chr3:161862342-161911123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:
2	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
3	chr13:34833062..34833562-chr3:161876754..161877328,2	MCF-7	breast:
4	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 614 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375645553	chr3:161862369-161862370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553381984	chr3:161862370-161862371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573161462	chr3:161862519-161862520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35437961	chr3:161862539-161862540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542022749	chr3:161862551-161862552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561918194	chr3:161862556-161862557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574226615	chr3:161862566-161862567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543129434	chr3:161862604-161862605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2063359	chr3:161862628-161862629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576570999	chr3:161862650-161862651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73154039	chr3:161862678-161862679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552108875	chr3:161862685-161862686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559388157	chr3:161862698-161862699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77257963	chr3:161862736-161862737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548417788	chr3:161862750-161862751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568249160	chr3:161862768-161862769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144183044	chr3:161862881-161862882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528272308	chr3:161862894-161862895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550795572	chr3:161862914-161862915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146552757	chr3:161862934-161862935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539460242	chr3:161862955-161862956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553286261	chr3:161863016-161863017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148730636	chr3:161863065-161863066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535715677	chr3:161863100-161863101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555569707	chr3:161863201-161863202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575429100	chr3:161863207-161863208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543543172	chr3:161863216-161863217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563246597	chr3:161863303-161863304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180789177	chr3:161863402-161863403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375613715	chr3:161863456-161863457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16835297	chr3:161863459-161863460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559354880	chr3:161863496-161863497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80226015	chr3:161863513-161863514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548485011	chr3:161863532-161863533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550503375	chr3:161863539-161863540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142354926	chr3:161863541-161863542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375879002	chr3:161863571-161863572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186230022	chr3:161863576-161863577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190848458	chr3:161863613-161863614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570860267	chr3:161863683-161863684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199753413	chr3:161863784-161863785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546693757	chr3:161863822-161863823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566505539	chr3:161863828-161863829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535791309	chr3:161863846-161863847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555629391	chr3:161863891-161863892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569165731	chr3:161863958-161863959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2063358	chr3:161863970-161863971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182442490	chr3:161863978-161863979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371741087	chr3:161865605-161865606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566595169	chr3:161865639-161865640	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161857600-161862400	Enhancers	NHDF-Ad	bronchial
2	chr3:161858200-161863800	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:161861400-161862400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:161862200-161862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:161862400-161862600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:161863800-161864000	Enhancers	Colon Smooth Muscle	Colon
7	chr3:161865600-161867000	Enhancers	Dnd41	blood
8	chr3:161869800-161871400	Enhancers	Fetal Intestine Large	intestine
9	chr3:161870400-161870800	Enhancers	Fetal Intestine Small	intestine
10	chr3:161874000-161874400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:161882400-161884200	Enhancers	Dnd41	blood
12	chr3:161882400-161884600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:161882800-161884600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:161883200-161883400	Active TSS	Osteobl	bone
15	chr3:161883200-161883600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:161883400-161883800	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:161883400-161883800	Flanking Active TSS	Osteobl	bone
18	chr3:161883400-161884600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:161883600-161883800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:161883600-161884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:161883600-161884000	Enhancers	NHDF-Ad	bronchial
22	chr3:161883600-161884200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:161883600-161884200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:161883600-161884200	Enhancers	NHLF	lung
25	chr3:161883800-161884200	Enhancers	A549	lung
26	chr3:161883800-161884400	Enhancers	Osteobl	bone
27	chr3:161883800-161884600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:161884200-161885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:161884600-161885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:161884600-161886400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:161884600-161888400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:161885000-161885200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:161885600-161886400	Enhancers	Adipose Nuclei	Adipose
34	chr3:161885600-161886800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:161886400-161886800	Weak transcription	Adipose Nuclei	Adipose
36	chr3:161886400-161887000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:161886800-161887200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:161886800-161887800	Enhancers	Adipose Nuclei	Adipose
39	chr3:161887000-161888000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:161887200-161888200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:161887800-161888800	Enhancers	NH-A	brain
42	chr3:161888000-161888200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:161888200-161889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:161888400-161888800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:161889800-161890000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:161893000-161894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:161893800-161894600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr3:161894600-161895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:161910200-161910400	Enhancers	Psoas Muscle	Psoas
50	chr3:161910400-161911600	Enhancers	Fetal Heart	heart

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