Variant report

Variant	esv3382974
Chromosome Location	chr3:162845299-162875214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:162845711-162845859	ENSG00000241369

Extended variants
information (count: 49 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575498048	chr3:162845740-162845741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs6779486	chr3:162845760-162845761	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180960797	chr3:162845770-162845771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs35930363	chr3:162845771-162845772	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61745254	chr3:162845810-162845811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs73025019	chr3:162845823-162845824	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368533006	chr3:162845848-162845849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs78024064	chr3:162847010-162847011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556095506	chr3:162847020-162847021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368170748	chr3:162847027-162847028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575633757	chr3:162847037-162847038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12630142	chr3:162847051-162847052	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565237434	chr3:162847155-162847156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528008270	chr3:162847164-162847165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190648476	chr3:162847189-162847190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs140596971	chr3:162847205-162847206	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145717662	chr3:162847210-162847211	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550011527	chr3:162847219-162847220	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563632004	chr3:162847238-162847239	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532539788	chr3:162847242-162847243	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183590793	chr3:162847323-162847324	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567213199	chr3:162847324-162847325	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574093863	chr3:162847328-162847329	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571544519	chr3:162847359-162847360	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs146583881	chr3:162847361-162847362	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs547532313	chr3:162847374-162847375	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139411944	chr3:162858012-162858013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374441912	chr3:162858089-162858090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114326808	chr3:162858103-162858104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149877417	chr3:162858104-162858105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118025817	chr3:162858109-162858110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558844974	chr3:162858125-162858126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369556559	chr3:162858129-162858130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73876648	chr3:162858236-162858237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535283879	chr3:162858237-162858238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371738751	chr3:162858264-162858265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189495747	chr3:162858277-162858278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181678079	chr3:162858314-162858315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6800836	chr3:162858381-162858382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13060277	chr3:162858382-162858383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576208258	chr3:162858474-162858475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185967948	chr3:162858528-162858529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565072069	chr3:162858555-162858556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569010442	chr3:162858640-162858641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372071900	chr3:162858682-162858683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34784505	chr3:162858735-162858736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs386667751	chr3:162858774-162858775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13083126	chr3:162858775-162858776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529761272	chr3:162858786-162858787	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162847000-162847400	ZNF genes & repeats	Dnd41	blood
2	chr3:162847200-162847400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:162858000-162858800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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