Variant report

Variant	nsv889884
Chromosome Location	chr8:2682287-2739988
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:3)
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	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:
2	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
3	chr8:2569834..2572343-chr8:2683951..2686234,2	K562	blood:
4	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
5	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
6	chr8:2676109..2678160-chr8:2681617..2684101,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-12	chr8:2691861-2692100	NONHSAT124738
2	lnc-MYOM2-12	chr8:2692294-2692594	NONHSAT124738
3	lnc-MYOM2-12	chr8:2694306-2694604	NONHSAT124738

No data

Extended variants
information (count: 2839 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:2839 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10216332	chr8:2682287-2682288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6998367	chr8:2682303-2682304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146325908	chr8:2682333-2682334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576976187	chr8:2682352-2682353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547389009	chr8:2682381-2682382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560506241	chr8:2682397-2682398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559582373	chr8:2682421-2682422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528486446	chr8:2682453-2682454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542182760	chr8:2682455-2682456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117170226	chr8:2682466-2682467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189043323	chr8:2682482-2682483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73660915	chr8:2682511-2682512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564284597	chr8:2682513-2682514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141820697	chr8:2682527-2682528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546939909	chr8:2682555-2682556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536278014	chr8:2682573-2682574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556605126	chr8:2682589-2682590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150697898	chr8:2682623-2682624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576657671	chr8:2682643-2682644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73660916	chr8:2682689-2682690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112883306	chr8:2682742-2682743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149849691	chr8:2682760-2682761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186455889	chr8:2682776-2682777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76264518	chr8:2682792-2682793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115579020	chr8:2682829-2682830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553276772	chr8:2682834-2682835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190910153	chr8:2682847-2682848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562451746	chr8:2682856-2682857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541895656	chr8:2682882-2682883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111741225	chr8:2682904-2682905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370573375	chr8:2682914-2682915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544736488	chr8:2682918-2682919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186014216	chr8:2682932-2682933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147943353	chr8:2682933-2682934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546801371	chr8:2682938-2682939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76770296	chr8:2682948-2682949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35614495	chr8:2682949-2682950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560475745	chr8:2682959-2682960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78213239	chr8:2682964-2682965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150629846	chr8:2682967-2682968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565829685	chr8:2682968-2682969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191291277	chr8:2682972-2682973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373847686	chr8:2682976-2682977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61085031	chr8:2682982-2682983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568842836	chr8:2682991-2682992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7834056	chr8:2682996-2682997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551082066	chr8:2682997-2682998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145168467	chr8:2683019-2683020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187509981	chr8:2683027-2683028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190537035	chr8:2683036-2683037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Breast cancer	20932292	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2675400-2695000	Weak transcription	K562	blood
2	chr8:2682400-2682800	Enhancers	Fetal Heart	heart
3	chr8:2683800-2684000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:2684000-2693200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:2688600-2706800	Weak transcription	Fetal Stomach	stomach
6	chr8:2691000-2692600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:2692000-2692200	Enhancers	Fetal Kidney	kidney
8	chr8:2692200-2708200	Weak transcription	Fetal Kidney	kidney
9	chr8:2692600-2693600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:2693200-2694200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:2693200-2702800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:2693600-2702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:2694200-2697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:2695000-2698200	Strong transcription	K562	blood
15	chr8:2697000-2698200	Enhancers	Fetal Heart	heart
16	chr8:2697000-2698800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:2698200-2718600	Weak transcription	K562	blood
18	chr8:2698800-2710400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:2703800-2705600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:2704000-2704800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:2704400-2705200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:2704600-2705200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:2704600-2705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:2705000-2705400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:2710400-2710800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr8:2725400-2726200	Enhancers	Fetal Kidney	kidney
27	chr8:2729200-2730000	Enhancers	Fetal Kidney	kidney
28	chr8:2730000-2732800	Weak transcription	Fetal Kidney	kidney
29	chr8:2732600-2733200	Enhancers	Fetal Muscle Leg	muscle
30	chr8:2732800-2733400	Enhancers	Fetal Kidney	kidney
31	chr8:2732800-2736600	Enhancers	Fetal Brain Male	brain
32	chr8:2733200-2734200	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:2733400-2734400	Weak transcription	Fetal Kidney	kidney
34	chr8:2733400-2734600	Enhancers	Fetal Brain Female	brain
35	chr8:2734200-2735200	Enhancers	Fetal Muscle Leg	muscle
36	chr8:2734400-2735200	Enhancers	Fetal Kidney	kidney
37	chr8:2735200-2735800	Weak transcription	Fetal Kidney	kidney
38	chr8:2735800-2736000	Enhancers	Fetal Kidney	kidney
39	chr8:2736000-2741400	Weak transcription	Fetal Kidney	kidney
40	chr8:2736400-2736800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:2736600-2737400	Weak transcription	Fetal Brain Male	brain
42	chr8:2737400-2737600	Enhancers	Fetal Brain Male	brain
43	chr8:2737600-2743000	Weak transcription	Fetal Brain Male	brain

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