Variant report

Variant	nsv592143
Chromosome Location	chr3:161754109-161791399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 833 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1983208	chr3:161754109-161754110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553090856	chr3:161754203-161754204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544705324	chr3:161754209-161754210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191471061	chr3:161754223-161754224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533203262	chr3:161754238-161754239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183690421	chr3:161754253-161754254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187722559	chr3:161754258-161754259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75738414	chr3:161754320-161754321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549234555	chr3:161754323-161754324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563112370	chr3:161754436-161754437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150797093	chr3:161754443-161754444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563444875	chr3:161754444-161754445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139221664	chr3:161754449-161754450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575067168	chr3:161754509-161754510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539475524	chr3:161754523-161754524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149767814	chr3:161754535-161754536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145724136	chr3:161754576-161754577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535763713	chr3:161754579-161754580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555335447	chr3:161754583-161754584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192652033	chr3:161754597-161754598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182282667	chr3:161754606-161754607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186895596	chr3:161754663-161754664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116756852	chr3:161754677-161754678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577698698	chr3:161754708-161754709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540256438	chr3:161754745-161754746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191718683	chr3:161754765-161754766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528893858	chr3:161754804-161754805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs962873	chr3:161754837-161754838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148947991	chr3:161754844-161754845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34916122	chr3:161754883-161754884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184597102	chr3:161754886-161754887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531978477	chr3:161755034-161755035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112627870	chr3:161755036-161755037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145466801	chr3:161755037-161755038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533083155	chr3:161755106-161755107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546685039	chr3:161755191-161755192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192827284	chr3:161755223-161755224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560781244	chr3:161755232-161755233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566486480	chr3:161755239-161755240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1510346	chr3:161755240-161755241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549308901	chr3:161755265-161755266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147709434	chr3:161755266-161755267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538077245	chr3:161755279-161755280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557643698	chr3:161755290-161755291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112982341	chr3:161755313-161755314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577385697	chr3:161755315-161755316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534040861	chr3:161755319-161755320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553808579	chr3:161755326-161755327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113442463	chr3:161755344-161755345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573700704	chr3:161755345-161755346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161750200-161759000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:161759000-161759200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:161759000-161759400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:161759000-161759400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:161759000-161759400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:161759000-161759800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:161759000-161759800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:161759000-161760000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:161759000-161760200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:161759200-161759600	Enhancers	Dnd41	blood
11	chr3:161759200-161765000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:161759800-161760000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:161760000-161760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:161760200-161760400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr3:161760200-161760400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:161765000-161765200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:161765400-161766000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:161766600-161771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:161768000-161769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:161770400-161771200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:161770800-161771200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:161777000-161777600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:161777200-161777600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:161789400-161793400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:161790200-161793000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:161790600-161791200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:161790600-161791400	Enhancers	Brain Anterior Caudate	brain
28	chr3:161790600-161793400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:161790800-161792000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:161791000-161791400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:161791200-161792600	Enhancers	Cortex derived primary cultured neurospheres	brain

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