Variant report

Variant	esv3421189
Chromosome Location	chr8:9253392-9254640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3B-6	chr8:9254520-9254602	l_3545_chr8:9246176-9254602_testes

Extended variants
information (count: 90 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546567857	chr8:9253417-9253418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566561434	chr8:9253507-9253508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370088785	chr8:9253512-9253513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539308393	chr8:9253522-9253523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552641179	chr8:9253545-9253546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78550536	chr8:9253551-9253552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538072714	chr8:9253577-9253578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113422149	chr8:9253597-9253598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568141279	chr8:9253607-9253608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533911600	chr8:9253644-9253645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529212049	chr8:9253687-9253688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200658821	chr8:9253688-9253689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77069629	chr8:9253705-9253706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76539721	chr8:9253715-9253716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374739124	chr8:9253718-9253719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377453673	chr8:9253721-9253722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66606860	chr8:9253722-9253723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62493843	chr8:9253725-9253726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76874309	chr8:9253728-9253729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79498089	chr8:9253729-9253730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200846898	chr8:9253731-9253732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78981621	chr8:9253733-9253734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377442585	chr8:9253743-9253744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371105264	chr8:9253746-9253747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374634206	chr8:9253747-9253748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576812997	chr8:9253749-9253750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62493844	chr8:9253753-9253754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12541684	chr8:9253755-9253756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12544363	chr8:9253757-9253758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201402315	chr8:9253760-9253761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12541685	chr8:9253763-9253764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7813605	chr8:9253765-9253766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12541686	chr8:9253771-9253772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199786554	chr8:9253774-9253775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74200574	chr8:9253776-9253777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200899313	chr8:9253778-9253779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12544364	chr8:9253779-9253780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144874373	chr8:9253785-9253786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74186331	chr8:9253790-9253791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11774926	chr8:9253791-9253792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7813736	chr8:9253795-9253796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138180220	chr8:9253807-9253808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556192550	chr8:9253810-9253811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112812221	chr8:9253816-9253817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143842337	chr8:9253825-9253826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147232372	chr8:9253841-9253842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10090242	chr8:9253849-9253850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202129595	chr8:9253850-9253851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10104787	chr8:9253851-9253852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10104789	chr8:9253853-9253854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9248000-9260000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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