Variant report

Variant	nsv519130
Chromosome Location	chr3:161829158-161832223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12107164	chr3:161829158-161829159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533100027	chr3:161829183-161829184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13086633	chr3:161829204-161829205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs62278969	chr3:161829296-161829297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566432969	chr3:161829362-161829363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13087182	chr3:161829464-161829465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9834002	chr3:161829473-161829474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9853727	chr3:161829492-161829493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77806024	chr3:161829537-161829538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533129899	chr3:161829593-161829594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558311377	chr3:161829605-161829606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79198805	chr3:161829734-161829735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73024748	chr3:161829758-161829759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560309275	chr3:161829763-161829764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368607946	chr3:161829778-161829779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76459767	chr3:161829827-161829828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542925698	chr3:161829852-161829853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149330071	chr3:161829858-161829859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115608802	chr3:161829867-161829868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551541157	chr3:161829871-161829872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571776516	chr3:161829884-161829885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190289420	chr3:161829922-161829923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532904688	chr3:161829929-161829930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182512541	chr3:161829975-161829976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114040458	chr3:161830023-161830024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535421022	chr3:161830089-161830090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555744790	chr3:161830091-161830092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569151663	chr3:161830099-161830100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535727806	chr3:161830113-161830114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114749556	chr3:161830134-161830135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4459917	chr3:161830152-161830153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs577740159	chr3:161830191-161830192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572486080	chr3:161830202-161830203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3041631	chr3:161830211-161830212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397729470	chr3:161830213-161830214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139045175	chr3:161830287-161830288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569537083	chr3:161830295-161830296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143043699	chr3:161830309-161830310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542611059	chr3:161830348-161830349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562874910	chr3:161830397-161830398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576341463	chr3:161830460-161830461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545265276	chr3:161830603-161830604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537317831	chr3:161830604-161830605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565339040	chr3:161830620-161830621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555359775	chr3:161830625-161830626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527844038	chr3:161830631-161830632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7617720	chr3:161830642-161830643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540659046	chr3:161830663-161830664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560188513	chr3:161830677-161830678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184751937	chr3:161830704-161830705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161827600-161831400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:161827800-161829400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:161828800-161829400	Enhancers	Brain Germinal Matrix	brain
4	chr3:161829400-161829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:161829400-161834200	Weak transcription	Brain Germinal Matrix	brain
6	chr3:161829600-161829800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:161829800-161830000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:161830000-161834200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:161831400-161834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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