Variant report

Variant	nsv877712
Chromosome Location	chr3:161459150-161512573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161472760..161474501-chr3:161478505..161480497,2	K562	blood:
2	chr3:161469489..161471513-chr3:161473255..161475165,2	K562	blood:
3	chr3:161472760..161474501-chr3:161478505..161480497,2	K562	blood:
4	chr3:161469489..161471513-chr3:161473255..161475165,2	K562	blood:
5	chr16:89006271..89008204-chr3:161471043..161472567,2	MCF-7	breast:
6	chr3:161277802..161278537-chr3:161469868..161470746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129993	chromatin interactions

Extended variants
information (count: 1240 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1240 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16833306	chr3:161459150-161459151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185839537	chr3:161459205-161459206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537918578	chr3:161459221-161459222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12638879	chr3:161459246-161459247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142111713	chr3:161459268-161459269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9879374	chr3:161459327-161459328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188206953	chr3:161459375-161459376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554217598	chr3:161459388-161459389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77577064	chr3:161463500-161463501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534689325	chr3:161463534-161463535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531242297	chr3:161463544-161463545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73014592	chr3:161463564-161463565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187959625	chr3:161463568-161463569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs514683	chr3:161463625-161463626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552337708	chr3:161463653-161463654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566234143	chr3:161463669-161463670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181011593	chr3:161463680-161463681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79472201	chr3:161463691-161463692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376896373	chr3:161463698-161463699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576667346	chr3:161463729-161463730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183939766	chr3:161463787-161463788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188663022	chr3:161463804-161463805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537373512	chr3:161463810-161463811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540429160	chr3:161463813-161463814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370862237	chr3:161463831-161463832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577000369	chr3:161463854-161463855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200347321	chr3:161463898-161463899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181495436	chr3:161463998-161463999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574215	chr3:161464022-161464023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572891514	chr3:161464075-161464076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139121336	chr3:161464082-161464083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541777617	chr3:161464091-161464092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6762676	chr3:161464134-161464135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186617752	chr3:161464167-161464168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544907899	chr3:161464180-161464181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115648019	chr3:161464235-161464236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533597657	chr3:161464257-161464258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555327419	chr3:161464258-161464259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112736311	chr3:161464285-161464286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398106656	chr3:161464295-161464296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541099847	chr3:161464324-161464325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368457601	chr3:161464369-161464370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs487000	chr3:161464371-161464372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76810105	chr3:161464393-161464394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112001352	chr3:161464420-161464421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577727954	chr3:161464423-161464424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548162748	chr3:161464477-161464478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571025205	chr3:161464489-161464490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138406524	chr3:161464507-161464508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79969537	chr3:161464528-161464529	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161457200-161459200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:161457200-161459400	Enhancers	Fetal Lung	lung
3	chr3:161459000-161459400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:161463400-161464600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:161463600-161465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:161473400-161474000	Enhancers	Dnd41	blood
9	chr3:161474000-161476400	Weak transcription	Dnd41	blood
10	chr3:161476400-161477800	Enhancers	Dnd41	blood
11	chr3:161476600-161476800	Enhancers	Placenta	Placenta
12	chr3:161477400-161477600	Enhancers	Placenta	Placenta
13	chr3:161483400-161484200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr3:161483800-161484800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:161483800-161485000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:161484200-161484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:161484200-161484600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:161484200-161484600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:161484200-161484600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:161484200-161484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:161484200-161484800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:161484600-161484800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:161484800-161486000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:161486000-161486200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr3:161486200-161486600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:161486200-161488400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:161487600-161488000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:161487600-161489600	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:161487800-161488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:161487800-161489200	Enhancers	GM12878-XiMat	blood
31	chr3:161487800-161489400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:161488000-161488200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:161488000-161488600	Enhancers	NH-A	brain
34	chr3:161488000-161490400	Enhancers	Dnd41	blood
35	chr3:161488200-161488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:161488400-161488600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr3:161488600-161489000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:161488800-161490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:161489000-161489400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:161489200-161489400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr3:161490400-161490800	Weak transcription	Dnd41	blood
42	chr3:161490800-161492800	Enhancers	Dnd41	blood
43	chr3:161497000-161507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:161498800-161499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:161498800-161499800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr3:161498800-161499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:161499000-161499200	Enhancers	A549	lung
48	chr3:161499000-161499600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:161499000-161499600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:161499000-161499800	Enhancers	Dnd41	blood

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