Variant report

Variant	nsv1010892
Chromosome Location	chr3:162484827-162540478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
2	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
3	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
4	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
5	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
6	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:

Extended variants
information (count: 1318 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1318 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571487860	chr3:162484827-162484828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs533789683	chr3:162484842-162484843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78782170	chr3:162484882-162484883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs9876348	chr3:162484912-162484913	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75786546	chr3:162484926-162484927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536600788	chr3:162484955-162484956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138482242	chr3:162484980-162484981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs529186274	chr3:162484992-162484993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544438492	chr3:162485010-162485011	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562882292	chr3:162485063-162485064	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558010725	chr3:162485064-162485065	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577894290	chr3:162485098-162485099	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141608337	chr3:162485100-162485101	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542368468	chr3:162485108-162485109	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9876683	chr3:162485123-162485124	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192788784	chr3:162485158-162485159	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150092267	chr3:162485231-162485232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201742415	chr3:162485241-162485242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12106918	chr3:162485244-162485245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531334212	chr3:162485247-162485248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9758875	chr3:162485250-162485251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539652280	chr3:162485273-162485274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184721985	chr3:162485298-162485299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527876256	chr3:162485299-162485300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547687696	chr3:162485313-162485314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567907843	chr3:162485354-162485355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536265594	chr3:162485359-162485360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556490924	chr3:162485381-162485382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9290136	chr3:162485435-162485436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540694483	chr3:162485446-162485447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188738994	chr3:162485532-162485533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79675645	chr3:162485559-162485560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201438981	chr3:162485574-162485575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181204560	chr3:162485586-162485587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577918858	chr3:162485590-162485591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540391999	chr3:162485592-162485593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576525809	chr3:162485625-162485626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549262783	chr3:162485652-162485653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535469253	chr3:162485658-162485659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1496728	chr3:162485673-162485674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573854328	chr3:162485684-162485685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138427342	chr3:162485686-162485687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567739311	chr3:162485702-162485703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562539907	chr3:162485726-162485727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368917869	chr3:162485749-162485750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532747133	chr3:162485759-162485760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149265437	chr3:162485778-162485779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9290137	chr3:162485832-162485833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376434135	chr3:162485873-162485874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147387516	chr3:162485929-162485930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Bladder cancer	21909424	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:162482800-162487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:162483400-162485200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:162485000-162485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:162485200-162487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:162487000-162487600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:162487000-162489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:162487600-162489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:162489000-162490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:162490000-162492400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:162490200-162491400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:162491200-162493400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:162491400-162493200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:162491400-162493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:162491400-162493800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:162491600-162493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:162492000-162493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:162492000-162493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:162492000-162494400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:162492200-162492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr3:162492200-162492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:162492400-162493000	Enhancers	Dnd41	blood
25	chr3:162492400-162493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:162492800-162493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:162493000-162494600	Weak transcription	Dnd41	blood
28	chr3:162493200-162494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:162493200-162494400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:162493800-162495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:162494400-162494600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:162494400-162495400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:162494600-162495200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:162494600-162496000	Enhancers	Dnd41	blood
35	chr3:162495200-162495400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:162495200-162500200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:162495400-162497800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:162496000-162498000	Weak transcription	Dnd41	blood
39	chr3:162497800-162498200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr3:162497800-162498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:162497800-162498400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:162497800-162498400	Enhancers	Brain Hippocampus Middle	brain
43	chr3:162497800-162498400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr3:162497800-162498400	Enhancers	Ovary	ovary
45	chr3:162498000-162498400	Enhancers	Small Intestine	intestine
46	chr3:162498000-162498600	Enhancers	Dnd41	blood
47	chr3:162498200-162498800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:162500200-162502600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr3:162503200-162503400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr3:162503400-162519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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