Variant report

Variant	nsv889994
Chromosome Location	chr8:5430301-5474720
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	chr8:5374260..5376916-chr8:5431835..5433649,2	K562	blood:

Extended variants
information (count: 1305 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1305 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577387694	chr8:5433232-5433233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74430642	chr8:5433245-5433246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79762017	chr8:5433249-5433250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544916632	chr8:5433255-5433256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563200884	chr8:5433269-5433270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183807267	chr8:5433277-5433278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542251947	chr8:5433287-5433288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568253709	chr8:5433295-5433296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116402641	chr8:5433336-5433337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528156885	chr8:5433345-5433346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189596700	chr8:5433349-5433350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10096145	chr8:5433365-5433366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533526421	chr8:5433384-5433385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374636432	chr8:5433392-5433393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34040265	chr8:5433402-5433403	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570364126	chr8:5433406-5433407	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181644941	chr8:5433423-5433424	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549093778	chr8:5433424-5433425	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149740262	chr8:5433430-5433431	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369514436	chr8:5433439-5433440	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10105978	chr8:5433456-5433457	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553014688	chr8:5433459-5433460	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565683630	chr8:5433466-5433467	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145478879	chr8:5433467-5433468	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534559257	chr8:5433476-5433477	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186674731	chr8:5433485-5433486	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554595912	chr8:5433490-5433491	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116929259	chr8:5433513-5433514	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10106095	chr8:5433531-5433532	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117820484	chr8:5433541-5433542	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192032132	chr8:5433549-5433550	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572765964	chr8:5433553-5433554	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374664658	chr8:5433570-5433571	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540341970	chr8:5433576-5433577	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181904082	chr8:5433623-5433624	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533616280	chr8:5433630-5433631	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545609361	chr8:5433631-5433632	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564044668	chr8:5433645-5433646	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557570222	chr8:5433653-5433654	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531091715	chr8:5433663-5433664	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549625820	chr8:5433688-5433689	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2733072	chr8:5433699-5433700	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528426841	chr8:5433703-5433704	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546692646	chr8:5433705-5433706	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546500198	chr8:5433725-5433726	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571404121	chr8:5433742-5433743	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559576105	chr8:5433817-5433818	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538483674	chr8:5433820-5433821	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556719179	chr8:5433862-5433863	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80128294	chr8:5433882-5433883	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Epilepsy	22083797	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
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5433200-5433800	Enhancers	Brain Substantia Nigra	brain
2	chr8:5433400-5434000	Active TSS	Brain Anterior Caudate	brain
3	chr8:5433600-5434000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:5433800-5434200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:5434200-5435000	Enhancers	Brain Substantia Nigra	brain
6	chr8:5449800-5450000	ZNF genes & repeats	Pancreas	Pancrea
7	chr8:5449800-5450200	Enhancers	Esophagus	oesophagus
8	chr8:5449800-5450200	ZNF genes & repeats	Gastric	stomach
9	chr8:5454800-5457200	Enhancers	Fetal Brain Male	brain
10	chr8:5457000-5458000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:5457600-5458000	Enhancers	Spleen	Spleen
12	chr8:5460800-5461200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:5461600-5462400	Enhancers	Brain Germinal Matrix	brain
14	chr8:5461600-5462600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:5462600-5468200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:5464600-5465000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:5467000-5467800	Enhancers	Brain Substantia Nigra	brain
18	chr8:5468200-5469600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:5468800-5469400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:5469000-5469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:5469000-5469400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:5469000-5469400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:5469200-5469600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:5469400-5472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:5470000-5470200	Enhancers	Pancreas	Pancrea
26	chr8:5471800-5472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:5472400-5472800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:5472600-5476200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:5472800-5476800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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