Variant report

Variant	nsv998389
Chromosome Location	chr3:162581361-162655486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
2	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
3	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
4	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-2	chr3:162631870-162632022	NONHSAT093026

Extended variants
information (count: 1244 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1244 , 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	rs557941382	chr3:162582638-162582639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577908561	chr3:162582643-162582644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12696170	chr3:162582664-162582665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539216121	chr3:162582672-162582673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12696171	chr3:162582696-162582697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572797759	chr3:162582712-162582713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188883234	chr3:162582716-162582717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563526850	chr3:162582748-162582749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143935635	chr3:162582782-162582783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115763080	chr3:162582933-162582934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544312424	chr3:162582989-162582990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181680055	chr3:162583430-162583431	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533576278	chr3:162583461-162583462	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549336441	chr3:162583514-162583515	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148632594	chr3:162583523-162583524	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs62396473	chr3:162583535-162583536	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76222205	chr3:162583662-162583663	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77467618	chr3:162583686-162583687	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62396474	chr3:162583687-162583688	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531571153	chr3:162583821-162583822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142632716	chr3:162583844-162583845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538746676	chr3:162583934-162583935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116716581	chr3:162583944-162583945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185676815	chr3:162583963-162583964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71315913	chr3:162584014-162584015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539666552	chr3:162584120-162584121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552738686	chr3:162584149-162584150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143307526	chr3:162584190-162584191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190199561	chr3:162584198-162584199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555208759	chr3:162584211-162584212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575206029	chr3:162584265-162584266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114575429	chr3:162584469-162584470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143641034	chr3:162584637-162584638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146723855	chr3:162584687-162584688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79095876	chr3:162584808-162584809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540865468	chr3:162584851-162584852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140365225	chr3:162584855-162584856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144123638	chr3:162584862-162584863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529483054	chr3:162584907-162584908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543356927	chr3:162584919-162584920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9681801	chr3:162585130-162585131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559718820	chr3:162585284-162585285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578018938	chr3:162585297-162585298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146520682	chr3:162585320-162585321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545517926	chr3:162585333-162585334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9682530	chr3:162585387-162585388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530773358	chr3:162585469-162585470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551478480	chr3:162585480-162585481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571752471	chr3:162585528-162585529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527764590	chr3:162585569-162585570	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162582600-162584000	Enhancers	Dnd41	blood
2	chr3:162583400-162583800	Active TSS	Osteobl	bone
3	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:162596800-162597400	Enhancers	Dnd41	blood
8	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
9	chr3:162600800-162601200	Enhancers	Dnd41	blood
10	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
12	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
13	chr3:162610200-162610800	Enhancers	A549	lung
14	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
19	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
20	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
21	chr3:162648200-162648400	Enhancers	Aorta	Aorta
22	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
23	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
24	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
25	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung
26	chr3:162653200-162654400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:162653800-162655000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:162654000-162655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:162654200-162654800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:162654200-162655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:162654400-162654800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:162654400-162665200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:162654600-162654800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:162654800-162655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:162654800-162655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:162655400-162655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:162655400-162656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:162655400-162656200	Enhancers	Fetal Lung	lung

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