Variant report

Variant	nsv520391
Chromosome Location	chr8:36331511-36384831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:36358780..36360792-chr8:36362133..36364098,2	K562	blood:
2	chr8:36358780..36360792-chr8:36362133..36364098,2	K562	blood:

Extended variants
information (count: 1095 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1095 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192073329	chr8:36331617-36331618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371621536	chr8:36331681-36331682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563804611	chr8:36331683-36331684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117790069	chr8:36331724-36331725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147352718	chr8:36331786-36331787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564681176	chr8:36331795-36331796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184338722	chr8:36331808-36331809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546717595	chr8:36331832-36331833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568202963	chr8:36331835-36331836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377440124	chr8:36331839-36331840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535091390	chr8:36331850-36331851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188644643	chr8:36331852-36331853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73585297	chr8:36331860-36331861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539728862	chr8:36331915-36331916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557483867	chr8:36331933-36331934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572696961	chr8:36331971-36331972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533777192	chr8:36331972-36331973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6984795	chr8:36332018-36332019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77480427	chr8:36332051-36332052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6985948	chr8:36332068-36332069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563931575	chr8:36332088-36332089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557337510	chr8:36332117-36332118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575810034	chr8:36332122-36332123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180950267	chr8:36332128-36332129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185775086	chr8:36332131-36332132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528689689	chr8:36332135-36332136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148421439	chr8:36332149-36332150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561606437	chr8:36332169-36332170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529007366	chr8:36332179-36332180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7009892	chr8:36332263-36332264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141689958	chr8:36332265-36332266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150544874	chr8:36332266-36332267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190732252	chr8:36332321-36332322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181975153	chr8:36332322-36332323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186208882	chr8:36332342-36332343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567686128	chr8:36332406-36332407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62505705	chr8:36332407-36332408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530945161	chr8:36332408-36332409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75215338	chr8:36332409-36332410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190598173	chr8:36332433-36332434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182884851	chr8:36332441-36332442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377387443	chr8:36332470-36332471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117527740	chr8:36332485-36332486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185639305	chr8:36332498-36332499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573609117	chr8:36332509-36332510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540801927	chr8:36332526-36332527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2703852	chr8:36332561-36332562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111486993	chr8:36332571-36332572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73585302	chr8:36332597-36332598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571433499	chr8:36332603-36332604	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:36331600-36333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:36332600-36333600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:36332800-36334000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:36341600-36341800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:36347600-36348200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:36347800-36348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:36348000-36348200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:36348000-36348400	Active TSS	NHEK	skin
9	chr8:36348200-36348400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:36348200-36348400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:36348200-36348800	Enhancers	Fetal Brain Male	brain
12	chr8:36348200-36349200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:36348200-36350000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:36348200-36353200	Enhancers	Brain Germinal Matrix	brain
15	chr8:36348400-36348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:36348400-36349200	Enhancers	Brain Angular Gyrus	brain
17	chr8:36348800-36352000	Weak transcription	Fetal Brain Male	brain
18	chr8:36350000-36351600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:36351600-36351800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:36352000-36352800	Enhancers	Fetal Brain Male	brain
21	chr8:36354000-36354200	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:36357000-36358000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:36358000-36359200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:36359200-36362600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:36359400-36361600	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:36360200-36362800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:36360400-36361000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:36360400-36361200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:36360400-36361200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:36361000-36361200	Enhancers	Brain Germinal Matrix	brain
31	chr8:36361000-36362600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:36361000-36362600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:36361200-36362000	Weak transcription	Brain Germinal Matrix	brain
34	chr8:36361600-36362000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:36361800-36362600	Enhancers	Fetal Brain Male	brain
36	chr8:36361800-36362600	Enhancers	Fetal Brain Female	brain
37	chr8:36362000-36362400	Enhancers	Adipose Nuclei	Adipose
38	chr8:36362000-36362400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr8:36362000-36362600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:36362000-36362600	Enhancers	Primary hematopoietic stem cells	blood
41	chr8:36362000-36362600	Enhancers	Brain Germinal Matrix	brain
42	chr8:36362000-36362600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:36362000-36362600	Enhancers	Fetal Muscle Leg	muscle
44	chr8:36362200-36362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:36362200-36362600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:36362200-36362600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:36362400-36362600	Enhancers	Brain Anterior Caudate	brain
48	chr8:36362600-36363800	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:36363800-36364000	Enhancers	Fetal Muscle Leg	muscle
50	chr8:36367200-36368000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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