Variant report

Variant	nsv889882
Chromosome Location	chr8:2619281-2865886
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:119)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:119 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:2607558..2609833-chr8:2620267..2622243,2	K562	blood:
2	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
3	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
4	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
5	chr8:2620299..2623099-chr8:2627454..2628985,2	K562	blood:
6	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
7	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
8	chr8:2578577..2581342-chr8:2628973..2630949,2	K562	blood:
9	chr8:2582217..2584470-chr8:2644052..2646887,2	K562	blood:
10	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:
11	chr8:2582656..2585104-chr8:2624688..2627704,3	K562	blood:
12	chr8:2640358..2642193-chr8:2645128..2647083,3	K562	blood:
13	chr8:2585106..2587038-chr8:2631319..2633373,2	K562	blood:
14	chr8:2621028..2623848-chr8:2627969..2631873,3	K562	blood:
15	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
16	chr8:2241146..2241991-chr8:2671759..2672451,2	MCF-7	breast:
17	chr8:2569834..2572343-chr8:2683951..2686234,2	K562	blood:
18	chr16:12825533..12827033-chr8:2762155..2763733,2	K562	blood:
19	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
20	chr8:2865247..2867969-chr8:2868176..2872126,4	K562	blood:
21	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:
22	chr8:2589525..2591658-chr8:2644551..2646934,3	K562	blood:
23	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
24	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
25	chr8:2568252..2570741-chr8:2670037..2672346,3	K562	blood:
26	chr8:2642351..2644132-chr8:2644764..2647688,2	K562	blood:
27	chr8:2564777..2566535-chr8:2633073..2636041,2	K562	blood:
28	chr8:2426482..2427246-chr8:2671820..2672460,2	MCF-7	breast:
29	chr8:2479991..2481177-chr8:2671774..2672712,4	K562	blood:
30	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:
31	chr8:2308369..2308915-chr8:2671740..2672327,2	MCF-7	breast:
32	chr8:2643241..2645944-chr8:2661981..2664507,2	K562	blood:
33	chr8:2211929..2212491-chr8:2672159..2672723,2	K562	blood:
34	chr8:2583662..2585649-chr8:2628654..2630173,2	K562	blood:
35	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
36	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
37	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
38	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
39	chr8:2620268..2621855-chr8:2623779..2625844,2	K562	blood:
40	chr8:2632102..2633803-chr8:2636020..2638844,2	K562	blood:
41	chr8:2624634..2626171-chr8:2626385..2627921,2	K562	blood:
42	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
43	chr8:2578154..2579763-chr8:2619502..2622316,2	K562	blood:
44	chr8:2631918..2634126-chr8:2639188..2641827,3	K562	blood:
45	chr8:2578255..2580228-chr8:2646659..2649405,2	K562	blood:
46	chr8:2631918..2634126-chr8:2639992..2641827,2	K562	blood:
47	chr8:2582743..2584939-chr8:2639124..2641022,2	K562	blood:
48	chr8:2592045..2593873-chr8:2639139..2641093,2	K562	blood:
49	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
50	chr8:2594821..2596661-chr8:2659400..2661815,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-4	chr8:2676789-2676941	ENSG00000253853
2	lnc-MYOM2-4	chr8:2679916-2680004	ENSG00000253853
3	lnc-MYOM2-11	chr8:2670856-2671431	NONHSAT124737
4	lnc-MYOM2-13	chr8:2778500-2779629	NONHSAT124739
5	lnc-MYOM2-4	chr8:2665889-2665956	ENSG00000253853
6	lnc-MYOM2-12	chr8:2691861-2692100	NONHSAT124738
7	lnc-MYOM2-4	chr8:2662104-2662202	XLOC_006690
8	lnc-MYOM2-12	chr8:2692294-2692594	NONHSAT124738
9	lnc-MYOM2-12	chr8:2694306-2694604	NONHSAT124738
10	lnc-MYOM2-4	chr8:2662104-2662227	ENSG00000253853

No data

Variant related genes	Relation type
ENSG00000249694	chromatin interactions
ENSG00000253853	chromatin interactions
ENSG00000254319	chromatin interactions

Extended variants
information (count: 12933 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:12933 , 50 per page) page: 1 2 3 4 5 6 7 ... 259

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4388475	chr8:2619281-2619282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557005175	chr8:2619294-2619295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369621095	chr8:2619298-2619299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4527897	chr8:2619312-2619313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537857884	chr8:2619335-2619336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546680482	chr8:2619375-2619376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557320146	chr8:2619440-2619441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577362067	chr8:2619479-2619480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189588050	chr8:2619503-2619504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56033235	chr8:2619530-2619531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543884932	chr8:2619544-2619545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56411257	chr8:2619586-2619587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149407910	chr8:2619589-2619590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377758046	chr8:2619603-2619604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542013893	chr8:2619609-2619610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577847242	chr8:2619638-2619639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192858986	chr8:2619658-2619659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531104124	chr8:2619699-2619700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544643944	chr8:2619711-2619712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144763885	chr8:2619733-2619734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76879197	chr8:2619738-2619739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547132130	chr8:2619745-2619746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373677600	chr8:2619773-2619774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566944094	chr8:2619775-2619776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373247621	chr8:2619785-2619786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185229769	chr8:2619808-2619809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17077227	chr8:2619841-2619842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537746470	chr8:2619847-2619848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557357019	chr8:2619894-2619895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4358824	chr8:2619903-2619904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529167071	chr8:2619904-2619905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17077236	chr8:2619935-2619936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549221050	chr8:2619960-2619961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553470627	chr8:2619991-2619992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573616332	chr8:2620044-2620045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190174259	chr8:2620057-2620058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555682136	chr8:2620078-2620079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575924056	chr8:2620093-2620094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544906639	chr8:2620101-2620102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116304582	chr8:2620133-2620134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578087651	chr8:2620165-2620166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139203390	chr8:2620196-2620197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560574802	chr8:2620226-2620227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55653427	chr8:2620232-2620233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549206910	chr8:2620257-2620258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562520626	chr8:2620265-2620266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531664644	chr8:2620287-2620288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370362093	chr8:2620294-2620295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563505858	chr8:2620324-2620325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571177967	chr8:2620325-2620326	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2616600-2620000	Weak transcription	K562	blood
2	chr8:2618800-2619400	Enhancers	Fetal Intestine Small	intestine
3	chr8:2619400-2619800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:2619800-2620200	Enhancers	Fetal Intestine Small	intestine
5	chr8:2620000-2621600	Enhancers	K562	blood
6	chr8:2621600-2626200	Weak transcription	K562	blood
7	chr8:2622600-2623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:2623200-2623400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:2623600-2625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:2625000-2625200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:2625000-2625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:2625200-2625400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:2625400-2626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:2625600-2626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:2626200-2626800	Enhancers	K562	blood
16	chr8:2626800-2627000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:2626800-2627200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:2626800-2627200	Flanking Active TSS	K562	blood
19	chr8:2627000-2627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:2627200-2627600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:2627200-2628200	Enhancers	K562	blood
22	chr8:2627200-2628400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:2627600-2628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:2627800-2628000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr8:2627800-2628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:2627800-2629800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:2628000-2628800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:2628000-2628800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:2628000-2629400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:2628000-2629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:2628000-2629600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:2628000-2629600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:2628200-2629000	Flanking Active TSS	K562	blood
34	chr8:2628200-2629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:2628200-2629800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:2628400-2629200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:2628400-2629600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:2628600-2629400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:2629000-2629800	Enhancers	K562	blood
40	chr8:2629800-2634400	Weak transcription	K562	blood
41	chr8:2634400-2634600	Enhancers	K562	blood
42	chr8:2634600-2635200	Genic enhancers	K562	blood
43	chr8:2635200-2635800	Enhancers	K562	blood
44	chr8:2635800-2640600	Weak transcription	K562	blood
45	chr8:2640600-2642200	Enhancers	K562	blood
46	chr8:2641200-2641800	Enhancers	Fetal Heart	heart
47	chr8:2641800-2645200	Weak transcription	Fetal Heart	heart
48	chr8:2642200-2644000	Weak transcription	K562	blood
49	chr8:2644000-2646000	Enhancers	K562	blood
50	chr8:2645200-2645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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