Variant report

Variant	nsv889892
Chromosome Location	chr8:2871365-2899975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:2893385..2895332-chr8:2897701..2899292,2	K562	blood:
2	chr8:2865247..2867969-chr8:2868176..2872126,4	K562	blood:
3	chr8:2893385..2895332-chr8:2897701..2899292,2	K562	blood:
4	chr12:56367505..56368235-chr8:2894157..2894798,2	MCF-7	breast:
5	chr8:2884129..2886374-chr8:2888333..2890117,2	K562	blood:
6	chr8:2884129..2886374-chr8:2888333..2890117,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-14	chr8:2879062-2880003	NONHSAT124740
2	lnc-MYOM2-14	chr8:2877373-2877426	NONHSAT124740

No data

Variant related genes	Relation type
ENSG00000111540	chromatin interactions

Extended variants
information (count: 1531 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1531 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11989141	chr8:2871365-2871366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73502900	chr8:2871439-2871440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549113493	chr8:2871468-2871469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17389359	chr8:2871477-2871478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554172499	chr8:2871498-2871499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144657084	chr8:2871540-2871541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74666975	chr8:2871573-2871574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs583172	chr8:2871576-2871577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75705962	chr8:2871581-2871582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77261605	chr8:2871600-2871601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs667762	chr8:2871632-2871633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs17079056	chr8:2871697-2871698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141988789	chr8:2871698-2871699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79000087	chr8:2871726-2871727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs33983386	chr8:2871727-2871728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113055830	chr8:2871728-2871729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72577769	chr8:2871729-2871730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71199523	chr8:2871730-2871731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376647137	chr8:2871752-2871753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143882023	chr8:2871776-2871777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374022765	chr8:2871785-2871786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183283906	chr8:2871802-2871803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78202746	chr8:2871868-2871869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150671314	chr8:2871872-2871873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574001384	chr8:2871915-2871916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557427385	chr8:2871935-2871936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187986088	chr8:2871943-2871944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369846223	chr8:2871961-2871962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539741546	chr8:2872027-2872028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79513771	chr8:2872028-2872029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562653957	chr8:2872036-2872037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140146738	chr8:2872050-2872051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576083598	chr8:2872054-2872055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577260271	chr8:2872062-2872063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542047197	chr8:2872063-2872064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545099371	chr8:2872093-2872094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575301115	chr8:2872115-2872116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372874341	chr8:2872123-2872124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs680457	chr8:2872131-2872132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368967872	chr8:2872144-2872145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143775934	chr8:2872149-2872150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192259720	chr8:2872163-2872164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77173367	chr8:2872169-2872170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560422407	chr8:2872173-2872174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548089861	chr8:2872189-2872190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529225038	chr8:2872192-2872193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549162513	chr8:2872203-2872204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569082062	chr8:2872220-2872221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561386767	chr8:2872232-2872233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551501164	chr8:2872238-2872239	Weak transcription	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2858600-2887600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:2872800-2873600	Enhancers	Fetal Brain Male	brain
3	chr8:2873200-2873600	Enhancers	Brain Germinal Matrix	brain
4	chr8:2879200-2879600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:2883800-2884200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:2883800-2884200	ZNF genes & repeats	Lung	lung
7	chr8:2884200-2886800	Weak transcription	Lung	lung
8	chr8:2885400-2885600	Enhancers	Pancreas	Pancrea
9	chr8:2885600-2886600	Weak transcription	Pancreas	Pancrea
10	chr8:2886600-2887000	ZNF genes & repeats	Pancreas	Pancrea
11	chr8:2886800-2887000	ZNF genes & repeats	Lung	lung
12	chr8:2887000-2892400	Weak transcription	Pancreas	Pancrea
13	chr8:2891400-2891600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:2891400-2893000	Enhancers	Fetal Lung	lung
15	chr8:2892400-2892600	Enhancers	Pancreas	Pancrea
16	chr8:2893000-2893800	Weak transcription	Fetal Lung	lung
17	chr8:2893800-2894000	Enhancers	Fetal Lung	lung
18	chr8:2894000-2894400	Weak transcription	Fetal Lung	lung

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