Variant report

Variant	nsv889989
Chromosome Location	chr8:5173733-5212268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
2	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
3	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:
4	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:

Extended variants
information (count: 670 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376294136	chr8:5178403-5178404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532082942	chr8:5178412-5178413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148528812	chr8:5178416-5178417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115502894	chr8:5178433-5178434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1004178	chr8:5178445-5178446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548330203	chr8:5178448-5178449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11993164	chr8:5178469-5178470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560457878	chr8:5178496-5178497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1004177	chr8:5178513-5178514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375721514	chr8:5178514-5178515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188636853	chr8:5178526-5178527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548944639	chr8:5178557-5178558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142635148	chr8:5178562-5178563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112009832	chr8:5178575-5178576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111649747	chr8:5178580-5178581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568795914	chr8:5178588-5178589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79217335	chr8:5178590-5178591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143441204	chr8:5178594-5178595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572964056	chr8:5178595-5178596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111921483	chr8:5178596-5178597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565145846	chr8:5178600-5178601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367843255	chr8:5178613-5178614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545177021	chr8:5178615-5178616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544562827	chr8:5178624-5178625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140219206	chr8:5178662-5178663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549856310	chr8:5178684-5178685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548270316	chr8:5178709-5178710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559863864	chr8:5178719-5178720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528641730	chr8:5178738-5178739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546889874	chr8:5178750-5178751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571853693	chr8:5178762-5178763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145215987	chr8:5178766-5178767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557260897	chr8:5178788-5178789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568896536	chr8:5178789-5178790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74557960	chr8:5178808-5178809	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554596771	chr8:5178843-5178844	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573264463	chr8:5178858-5178859	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192583285	chr8:5178867-5178868	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182098571	chr8:5178870-5178871	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376809296	chr8:5178871-5178872	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531427603	chr8:5178879-5178880	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13273452	chr8:5178887-5178888	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562784630	chr8:5178890-5178891	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73193052	chr8:5178896-5178897	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560154239	chr8:5178917-5178918	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186762391	chr8:5178920-5178921	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377088999	chr8:5178936-5178937	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552297438	chr8:5178938-5178939	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565316708	chr8:5178944-5178945	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78730069	chr8:5178955-5178956	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5178400-5179000	Enhancers	NHEK	skin
2	chr8:5178600-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:5178800-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:5178800-5179400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr8:5179000-5179400	Active TSS	A549	lung
6	chr8:5189800-5190000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:5193600-5194400	Enhancers	Fetal Brain Male	brain
8	chr8:5206400-5206800	Enhancers	Fetal Kidney	kidney
9	chr8:5206600-5207200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:5206600-5207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:5207200-5207600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:5207200-5208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:5207400-5207800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:5207600-5207800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:5207600-5208200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:5207800-5212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:5207800-5212600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:5210000-5212800	Weak transcription	Gastric	stomach

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