Variant report

Variant	nsv982088
Chromosome Location	chr8:36374918-36385547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 312 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150755135	chr8:36374918-36374919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139874156	chr8:36374924-36374925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190977634	chr8:36374971-36374972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35992188	chr8:36374985-36374986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113524504	chr8:36375003-36375004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572940956	chr8:36375017-36375018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550167584	chr8:36375042-36375043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571900733	chr8:36375082-36375083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182808660	chr8:36375102-36375103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540388182	chr8:36375140-36375141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373368100	chr8:36375147-36375148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57990211	chr8:36375173-36375174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149838208	chr8:36375186-36375187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532493399	chr8:36375188-36375189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544361972	chr8:36375217-36375218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188813093	chr8:36375249-36375250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554729386	chr8:36375297-36375298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575899304	chr8:36375299-36375300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543412562	chr8:36375377-36375378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564766471	chr8:36375426-36375427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552680386	chr8:36375459-36375460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562575902	chr8:36375561-36375562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114832240	chr8:36375588-36375589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115664295	chr8:36375605-36375606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190851688	chr8:36375608-36375609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371165594	chr8:36375627-36375628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529854779	chr8:36375644-36375645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542682721	chr8:36375696-36375697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556304661	chr8:36375711-36375712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561056579	chr8:36375734-36375735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7013702	chr8:36375740-36375741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563000704	chr8:36375745-36375746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550146380	chr8:36375747-36375748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74697907	chr8:36375758-36375759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112295726	chr8:36375819-36375820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548127215	chr8:36375827-36375828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143480288	chr8:36375942-36375943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543597609	chr8:36375955-36375956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7018078	chr8:36375985-36375986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146380402	chr8:36376010-36376011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569720562	chr8:36376038-36376039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370227582	chr8:36376082-36376083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529536224	chr8:36376101-36376102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561921284	chr8:36376122-36376123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558501225	chr8:36376128-36376129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201116194	chr8:36376169-36376170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183112561	chr8:36376170-36376171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540891463	chr8:36376182-36376183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552871617	chr8:36376191-36376192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139763951	chr8:36376226-36376227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	19651600	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36373000-36376400	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:36375000-36375400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:36375800-36376200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:36376200-36380800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:36376400-36376800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:36376800-36377800	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:36377000-36378000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:36377800-36378000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:36377800-36378000	Enhancers	Fetal Muscle Leg	muscle
10	chr8:36378200-36380200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:36378600-36379200	Enhancers	Adipose Nuclei	Adipose
12	chr8:36380200-36381200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:36380200-36381400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:36380600-36381400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:36380800-36381200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:36380800-36381200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:36380800-36381200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:36380800-36381200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:36380800-36381800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:36381200-36383400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:36383400-36383600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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