Variant report

Variant	nsv1026607
Chromosome Location	chr8:2733604-2852674
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:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
2	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
3	chr16:12825533..12827033-chr8:2762155..2763733,2	K562	blood:
4	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
5	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
6	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
7	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
8	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
9	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
10	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:
11	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
12	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
13	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
14	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
15	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
16	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
17	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
18	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
19	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
20	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
21	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
22	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
23	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
24	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
25	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
26	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
27	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
28	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:
29	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
30	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
31	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-13	chr8:2778500-2779629	NONHSAT124739

No data

Extended variants
information (count: 5999 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:5999 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552791003	chr8:2733607-2733608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144112971	chr8:2733629-2733630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148665275	chr8:2733639-2733640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562723798	chr8:2733654-2733655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547788147	chr8:2733773-2733774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548679935	chr8:2733783-2733784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568323835	chr8:2733813-2733814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144368075	chr8:2733816-2733817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550601878	chr8:2733824-2733825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570396214	chr8:2733827-2733828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539374944	chr8:2733831-2733832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552862288	chr8:2733874-2733875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75497699	chr8:2733875-2733876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568734968	chr8:2733876-2733877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573007771	chr8:2733881-2733882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147402610	chr8:2733895-2733896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531771231	chr8:2733906-2733907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555440732	chr8:2733908-2733909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11985526	chr8:2733923-2733924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371352293	chr8:2733925-2733926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568243366	chr8:2733941-2733942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11353913	chr8:2733946-2733947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564107218	chr8:2733960-2733961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537386216	chr8:2733963-2733964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56367760	chr8:2733975-2733976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546500098	chr8:2733994-2733995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191260613	chr8:2734021-2734022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528695326	chr8:2734042-2734043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182686974	chr8:2734045-2734046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2627290	chr8:2734052-2734053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562208858	chr8:2734071-2734072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530945976	chr8:2734078-2734079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144700260	chr8:2734080-2734081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187062897	chr8:2734108-2734109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539313278	chr8:2734126-2734127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546881186	chr8:2734137-2734138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566498671	chr8:2734156-2734157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12114676	chr8:2734168-2734169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs151257874	chr8:2734179-2734180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555310849	chr8:2734187-2734188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs341672	chr8:2734202-2734203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537969874	chr8:2734207-2734208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140429604	chr8:2734212-2734213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577730186	chr8:2734224-2734225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567880126	chr8:2734242-2734243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559999115	chr8:2734248-2734249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573505938	chr8:2734258-2734259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542394022	chr8:2734301-2734302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192207132	chr8:2734324-2734325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530883534	chr8:2734336-2734337	Enhancers 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:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2732800-2736600	Enhancers	Fetal Brain Male	brain
2	chr8:2733200-2734200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:2733400-2734400	Weak transcription	Fetal Kidney	kidney
4	chr8:2733400-2734600	Enhancers	Fetal Brain Female	brain
5	chr8:2734200-2735200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:2734400-2735200	Enhancers	Fetal Kidney	kidney
7	chr8:2735200-2735800	Weak transcription	Fetal Kidney	kidney
8	chr8:2735800-2736000	Enhancers	Fetal Kidney	kidney
9	chr8:2736000-2741400	Weak transcription	Fetal Kidney	kidney
10	chr8:2736400-2736800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:2736600-2737400	Weak transcription	Fetal Brain Male	brain
12	chr8:2737400-2737600	Enhancers	Fetal Brain Male	brain
13	chr8:2737600-2743000	Weak transcription	Fetal Brain Male	brain
14	chr8:2741400-2742200	Enhancers	Fetal Kidney	kidney
15	chr8:2742800-2743000	Enhancers	K562	blood
16	chr8:2743000-2743200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:2743000-2743200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:2743000-2743600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:2743000-2743600	Enhancers	Fetal Brain Male	brain
20	chr8:2743000-2744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:2743000-2744000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:2743000-2744000	Flanking Active TSS	K562	blood
23	chr8:2743000-2744000	Enhancers	NH-A	brain
24	chr8:2743200-2743400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:2743200-2743400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:2743200-2743600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:2743200-2743600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:2743200-2743600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:2743200-2743600	Enhancers	Fetal Brain Female	brain
30	chr8:2743200-2743600	Enhancers	Fetal Lung	lung
31	chr8:2743200-2743600	Active TSS	Osteobl	bone
32	chr8:2743200-2743800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:2743400-2743800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:2743400-2743800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:2743400-2743800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:2743400-2744000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:2743400-2744000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:2743400-2744400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:2743600-2744000	Enhancers	Osteobl	bone
40	chr8:2743600-2744200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:2743600-2744200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:2743600-2744200	Active TSS	Brain Hippocampus Middle	brain
43	chr8:2743600-2747000	Weak transcription	Fetal Brain Male	brain
44	chr8:2743800-2744200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:2743800-2744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:2743800-2744200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:2744000-2744200	Enhancers	K562	blood
48	chr8:2744200-2747800	Weak transcription	K562	blood
49	chr8:2744400-2744800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:2744800-2745200	Enhancers	H1 Cell Line	embryonic stem cell

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