Variant report

Variant	nsv889886
Chromosome Location	chr8:2740502-2877503
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
2	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
3	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
4	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
5	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
6	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
7	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
8	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
9	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
10	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
11	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
12	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
13	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
14	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
15	chr8:2865247..2867969-chr8:2868176..2872126,4	K562	blood:
16	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:
17	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
18	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
19	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
20	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
21	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
22	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
23	chr16:12825533..12827033-chr8:2762155..2763733,2	K562	blood:
24	chr8:2865247..2867969-chr8:2868176..2872126,4	K562	blood:
25	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
26	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
27	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
28	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
29	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
30	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-14	chr8:2877373-2877426	NONHSAT124740
2	lnc-MYOM2-13	chr8:2778500-2779629	NONHSAT124739

No data

Extended variants
information (count: 7032 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:7032 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs641525	chr8:2740502-2740503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs543694489	chr8:2740530-2740531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563785963	chr8:2740531-2740532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529776988	chr8:2740534-2740535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147561035	chr8:2740554-2740555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376073396	chr8:2740563-2740564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553129464	chr8:2740566-2740567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80053758	chr8:2740570-2740571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184857726	chr8:2740587-2740588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112827430	chr8:2740595-2740596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140897346	chr8:2740612-2740613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528330345	chr8:2740616-2740617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2627265	chr8:2740637-2740638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568063358	chr8:2740638-2740639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs642375	chr8:2740689-2740690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574926998	chr8:2740693-2740694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150162539	chr8:2740708-2740709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539173365	chr8:2740728-2740729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552960966	chr8:2740744-2740745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572876910	chr8:2740789-2740790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189700158	chr8:2740790-2740791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555292029	chr8:2740857-2740858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575065345	chr8:2740874-2740875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114845934	chr8:2740890-2740891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs654151	chr8:2740892-2740893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532606356	chr8:2740904-2740905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79303570	chr8:2740907-2740908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559275903	chr8:2740928-2740929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs653754	chr8:2740941-2740942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138597312	chr8:2740946-2740947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568001120	chr8:2740964-2740965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148869167	chr8:2740987-2740988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577814525	chr8:2740998-2740999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7823974	chr8:2741015-2741016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2670085	chr8:2741022-2741023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs528339673	chr8:2741028-2741029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377118221	chr8:2741035-2741036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553097865	chr8:2741041-2741042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566609077	chr8:2741046-2741047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77663846	chr8:2741049-2741050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555428934	chr8:2741052-2741053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145056477	chr8:2741053-2741054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575047684	chr8:2741056-2741057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543776153	chr8:2741060-2741061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192965473	chr8:2741083-2741084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577369297	chr8:2741093-2741094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs654641	chr8:2741122-2741123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546035087	chr8:2741123-2741124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2721276	chr8:2741138-2741139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs654665	chr8:2741140-2741141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2736000-2741400	Weak transcription	Fetal Kidney	kidney
2	chr8:2737600-2743000	Weak transcription	Fetal Brain Male	brain
3	chr8:2741400-2742200	Enhancers	Fetal Kidney	kidney
4	chr8:2742800-2743000	Enhancers	K562	blood
5	chr8:2743000-2743200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:2743000-2743200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:2743000-2743600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:2743000-2743600	Enhancers	Fetal Brain Male	brain
9	chr8:2743000-2744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:2743000-2744000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:2743000-2744000	Flanking Active TSS	K562	blood
12	chr8:2743000-2744000	Enhancers	NH-A	brain
13	chr8:2743200-2743400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:2743200-2743400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:2743200-2743600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:2743200-2743600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:2743200-2743600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr8:2743200-2743600	Enhancers	Fetal Brain Female	brain
19	chr8:2743200-2743600	Enhancers	Fetal Lung	lung
20	chr8:2743200-2743600	Active TSS	Osteobl	bone
21	chr8:2743200-2743800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:2743400-2743800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:2743400-2743800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:2743400-2743800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr8:2743400-2744000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:2743400-2744000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:2743400-2744400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:2743600-2744000	Enhancers	Osteobl	bone
29	chr8:2743600-2744200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:2743600-2744200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:2743600-2744200	Active TSS	Brain Hippocampus Middle	brain
32	chr8:2743600-2747000	Weak transcription	Fetal Brain Male	brain
33	chr8:2743800-2744200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:2743800-2744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:2743800-2744200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:2744000-2744200	Enhancers	K562	blood
37	chr8:2744200-2747800	Weak transcription	K562	blood
38	chr8:2744400-2744800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:2744800-2745200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:2747000-2748000	Enhancers	Fetal Brain Male	brain
41	chr8:2756800-2757200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:2756800-2757400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:2756800-2757600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr8:2756800-2757600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:2757000-2757600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:2757000-2757800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:2757200-2757600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:2757200-2757600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:2757200-2757800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:2768000-2768200	Enhancers	Gastric	stomach

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