Variant report

Variant	nsv889883
Chromosome Location	chr8:2639198-2808860
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:72)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
2	chr8:2479991..2481177-chr8:2671774..2672712,4	K562	blood:
3	chr16:12825533..12827033-chr8:2762155..2763733,2	K562	blood:
4	chr8:2643241..2645944-chr8:2661981..2664507,2	K562	blood:
5	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:
6	chr8:2660410..2661970-chr8:2666525..2669002,2	K562	blood:
7	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
8	chr8:2646083..2648399-chr8:2651265..2652785,2	K562	blood:
9	chr8:2640358..2642193-chr8:2645128..2647083,3	K562	blood:
10	chr8:2675575..2676101-chr8:3394089..3394683,2	MCF-7	breast:
11	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
12	chr8:2676109..2678160-chr8:2681617..2684101,2	K562	blood:
13	chr8:2241146..2241991-chr8:2671759..2672451,2	MCF-7	breast:
14	chr8:2676109..2678160-chr8:2681617..2684101,2	K562	blood:
15	chr8:2660410..2661970-chr8:2666525..2669002,2	K562	blood:
16	chr8:2631918..2634126-chr8:2639992..2641827,2	K562	blood:
17	chr8:2750431..2753920-chr8:2754914..2757254,3	K562	blood:
18	chr8:2647922..2650103-chr8:2653223..2655397,2	K562	blood:
19	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
20	chr8:2563425..2566170-chr8:2680096..2682261,2	K562	blood:
21	chr8:2647477..2649422-chr8:2653897..2655519,2	K562	blood:
22	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
23	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
24	chr8:2582217..2584470-chr8:2644052..2646887,2	K562	blood:
25	chr8:2568252..2570741-chr8:2670037..2672346,3	K562	blood:
26	chr8:2426482..2427246-chr8:2671820..2672460,2	MCF-7	breast:
27	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
28	chr8:2578255..2580228-chr8:2646659..2649405,2	K562	blood:
29	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
30	chr8:2643241..2645944-chr8:2661981..2664507,2	K562	blood:
31	chr8:2631918..2634126-chr8:2639188..2641827,3	K562	blood:
32	chr8:2569757..2570653-chr8:2671876..2672455,2	K562	blood:
33	chr8:2640358..2642193-chr8:2645128..2647083,3	K562	blood:
34	chr8:2499248..2502177-chr8:2672093..2674140,2	K562	blood:
35	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
36	chr8:2642351..2644132-chr8:2644764..2647688,2	K562	blood:
37	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
38	chr8:2735475..2738288-chr8:2740776..2743385,2	K562	blood:
39	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
40	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
41	chr8:2582743..2584939-chr8:2639124..2641022,2	K562	blood:
42	chr8:2211929..2212491-chr8:2672159..2672723,2	K562	blood:
43	chr8:2646083..2648399-chr8:2651265..2652785,2	K562	blood:
44	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
45	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
46	chr8:2574708..2577541-chr8:2645508..2647339,2	K562	blood:
47	chr8:2584493..2586709-chr8:2648044..2650794,2	K562	blood:
48	chr8:2671763..2673486-chr8:2679211..2682060,2	K562	blood:
49	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:
50	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 8390 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:8390 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2924899	chr8:2639198-2639199	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555874575	chr8:2639207-2639208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140698594	chr8:2639216-2639217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2924898	chr8:2639251-2639252	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545765145	chr8:2639254-2639255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2924897	chr8:2639266-2639267	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79675471	chr8:2639292-2639293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540137692	chr8:2639293-2639294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150173748	chr8:2639299-2639300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575968039	chr8:2639319-2639320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573624811	chr8:2639339-2639340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544994476	chr8:2639340-2639341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564987032	chr8:2639347-2639348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182076889	chr8:2639375-2639376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562633084	chr8:2639420-2639421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78343646	chr8:2639424-2639425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2924896	chr8:2639448-2639449	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35169667	chr8:2639474-2639475	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138742170	chr8:2639495-2639496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187228529	chr8:2639518-2639519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529305898	chr8:2639519-2639520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376670874	chr8:2639520-2639521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567048739	chr8:2639532-2639533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71519891	chr8:2639538-2639539	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550632401	chr8:2639567-2639568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192108863	chr8:2639619-2639620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549092048	chr8:2639630-2639631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182666948	chr8:2639675-2639676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537967576	chr8:2639684-2639685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141761340	chr8:2639721-2639722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185959367	chr8:2639738-2639739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190241950	chr8:2639764-2639765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554084334	chr8:2639777-2639778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573834216	chr8:2639788-2639789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542644214	chr8:2639793-2639794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146230647	chr8:2639829-2639830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576079043	chr8:2639849-2639850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373873718	chr8:2639852-2639853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111680037	chr8:2639866-2639867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs578236389	chr8:2639870-2639871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138867348	chr8:2639876-2639877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560875457	chr8:2639901-2639902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539582787	chr8:2639907-2639908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149389358	chr8:2639913-2639914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34264769	chr8:2639919-2639920	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71519892	chr8:2639948-2639949	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532897188	chr8:2639954-2639955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531555979	chr8:2639961-2639962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551502470	chr8:2639976-2639977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148622768	chr8:2639995-2639996	Weak transcription	Chromatin interactive region	1 gene(s)	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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2635800-2640600	Weak transcription	K562	blood
2	chr8:2640600-2642200	Enhancers	K562	blood
3	chr8:2641200-2641800	Enhancers	Fetal Heart	heart
4	chr8:2641800-2645200	Weak transcription	Fetal Heart	heart
5	chr8:2642200-2644000	Weak transcription	K562	blood
6	chr8:2644000-2646000	Enhancers	K562	blood
7	chr8:2645200-2645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:2645200-2646800	Enhancers	Fetal Heart	heart
9	chr8:2645400-2645600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:2645400-2645800	Enhancers	Brain Anterior Caudate	brain
11	chr8:2645400-2645800	Enhancers	Brain Hippocampus Middle	brain
12	chr8:2645400-2649400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:2645600-2645800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:2645600-2649400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:2645800-2650800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:2646000-2646400	Flanking Active TSS	K562	blood
17	chr8:2646200-2647400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:2646400-2646600	Enhancers	K562	blood
19	chr8:2646600-2651200	Weak transcription	K562	blood
20	chr8:2647200-2647800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:2647400-2647800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:2647400-2648000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:2647400-2648000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:2647400-2648200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:2647400-2648400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:2647800-2649400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:2647800-2649800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:2648000-2650200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:2648200-2650000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:2648400-2649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:2649400-2649600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:2649400-2649600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:2649400-2650400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:2649400-2650600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:2649400-2651400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:2649600-2650000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:2649800-2650800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:2649800-2650800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:2650000-2651000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:2650000-2651200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:2650200-2651200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:2650400-2650800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:2650800-2651000	Enhancers	Brain Anterior Caudate	brain
44	chr8:2650800-2651400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:2650800-2651400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:2651200-2653400	Strong transcription	K562	blood
47	chr8:2651600-2652000	Weak transcription	Fetal Kidney	kidney
48	chr8:2652800-2655400	Weak transcription	Fetal Kidney	kidney
49	chr8:2653400-2654600	Weak transcription	K562	blood
50	chr8:2654600-2655000	ZNF genes & repeats	K562	blood

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