Variant report

Variant	nsv460966
Chromosome Location	chr3:163951886-164004812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
2	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
3	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
4	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
5	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:

Extended variants
information (count: 1926 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1926 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1667783	chr3:163951886-163951887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568665507	chr3:163951926-163951927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377555007	chr3:163951929-163951930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138433875	chr3:163951935-163951936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557599957	chr3:163951956-163951957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116801932	chr3:163951978-163951979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545772726	chr3:163951982-163951983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1796596	chr3:163951991-163951992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573280968	chr3:163952015-163952016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376034065	chr3:163952098-163952099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562216745	chr3:163952114-163952115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531099575	chr3:163952270-163952271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192360173	chr3:163952328-163952329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142772670	chr3:163952375-163952376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13068525	chr3:163952379-163952380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549926102	chr3:163952399-163952400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546565521	chr3:163952422-163952423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373927486	chr3:163952423-163952424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528884209	chr3:163952428-163952429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548773634	chr3:163952445-163952446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568624553	chr3:163952449-163952450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536241871	chr3:163952459-163952460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537631728	chr3:163952460-163952461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557563131	chr3:163952476-163952477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568431869	chr3:163952478-163952479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73154457	chr3:163952510-163952511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533885096	chr3:163952544-163952545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367953377	chr3:163952569-163952570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182102326	chr3:163952627-163952628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146982435	chr3:163952661-163952662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138064675	chr3:163952662-163952663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573668356	chr3:163952711-163952712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575842400	chr3:163952725-163952726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374245002	chr3:163952788-163952789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547893075	chr3:163952815-163952816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187099447	chr3:163952843-163952844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191807898	chr3:163953033-163953034	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539247626	chr3:163953040-163953041	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183939634	chr3:163953071-163953072	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540522799	chr3:163953078-163953079	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190166767	chr3:163953147-163953148	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143636597	chr3:163953161-163953162	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567006713	chr3:163953162-163953163	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144103809	chr3:163953213-163953214	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371137599	chr3:163953260-163953261	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562219524	chr3:163953262-163953263	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148697220	chr3:163953266-163953267	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368963190	chr3:163953280-163953281	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539232184	chr3:163953421-163953422	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558693317	chr3:163953442-163953443	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163948800-163953000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:163948800-163953000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163952400-163953600	Enhancers	Fetal Kidney	kidney
4	chr3:163953000-163953600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:163953000-163959200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163953600-163954800	Weak transcription	Fetal Kidney	kidney
7	chr3:163954800-163955600	Enhancers	Fetal Kidney	kidney
8	chr3:163959200-163962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163962000-163962600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163962600-163963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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