Variant report

Variant	nsv889881
Chromosome Location	chr8:2611142-2667710
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:77)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:2588918..2591630-chr8:2632391..2633990,2	K562	blood:
2	chr8:2620268..2621855-chr8:2623779..2625844,2	K562	blood:
3	chr8:2643241..2645944-chr8:2661981..2664507,2	K562	blood:
4	chr8:2589525..2591658-chr8:2644551..2646934,3	K562	blood:
5	chr8:2620268..2621855-chr8:2623779..2625844,2	K562	blood:
6	chr8:2578255..2580228-chr8:2646659..2649405,2	K562	blood:
7	chr8:2626526..2629237-chr8:2643013..2645044,2	K562	blood:
8	chr8:2632102..2633803-chr8:2636020..2638844,2	K562	blood:
9	chr8:2622298..2624399-chr8:2625541..2627206,2	K562	blood:
10	chr8:2584493..2586709-chr8:2648044..2650794,2	K562	blood:
11	chr8:2594821..2596661-chr8:2659400..2661815,2	K562	blood:
12	chr8:2584178..2586642-chr8:2609654..2611417,2	K562	blood:
13	chr8:2582743..2584939-chr8:2639124..2641022,2	K562	blood:
14	chr8:2647477..2649422-chr8:2653897..2655519,2	K562	blood:
15	chr8:2578154..2579763-chr8:2619502..2622316,2	K562	blood:
16	chr8:2613070..2615435-chr8:2618441..2620746,3	K562	blood:
17	chr8:2640358..2642193-chr8:2645128..2647083,3	K562	blood:
18	chr8:2582656..2585104-chr8:2624688..2627704,3	K562	blood:
19	chr8:2582217..2584470-chr8:2644052..2646887,2	K562	blood:
20	chr8:2631918..2634126-chr8:2639992..2641827,2	K562	blood:
21	chr8:2583662..2585649-chr8:2628654..2630173,2	K562	blood:
22	chr8:2642351..2644132-chr8:2644764..2647688,2	K562	blood:
23	chr8:2631918..2634126-chr8:2639188..2641827,3	K562	blood:
24	chr8:2660909..2663235-chr8:2664296..2666445,2	K562	blood:
25	chr8:2578568..2580077-chr8:2629449..2631121,2	K562	blood:
26	chr8:2617946..2621855-chr8:2622304..2626900,6	K562	blood:
27	chr8:2581583..2583717-chr8:2629779..2632659,2	K562	blood:
28	chr8:2631963..2633946-chr8:2635441..2638844,4	K562	blood:
29	chr8:2636014..2638648-chr8:2639734..2641610,2	K562	blood:
30	chr8:2636014..2638648-chr8:2639734..2641610,2	K562	blood:
31	chr8:2591664..2593883-chr8:2609640..2612536,2	K562	blood:
32	chr8:2596453..2598067-chr8:2617789..2620635,2	K562	blood:
33	chr8:2599818..2601466-chr8:2615794..2618126,2	K562	blood:
34	chr8:2660410..2661970-chr8:2666525..2669002,2	K562	blood:
35	chr8:2647922..2650103-chr8:2653223..2655397,2	K562	blood:
36	chr8:2582217..2585126-chr8:2645115..2648033,3	K562	blood:
37	chr8:2642351..2644132-chr8:2644764..2647688,2	K562	blood:
38	chr8:2631963..2633946-chr8:2635441..2638844,4	K562	blood:
39	chr8:2624634..2626171-chr8:2626385..2627921,2	K562	blood:
40	chr8:2631918..2634126-chr8:2639992..2641827,2	K562	blood:
41	chr8:2620299..2623099-chr8:2627454..2628985,2	K562	blood:
42	chr8:2646083..2648399-chr8:2651265..2652785,2	K562	blood:
43	chr8:2607225..2609833-chr8:2620743..2622482,2	K562	blood:
44	chr8:2647922..2650103-chr8:2653223..2655397,2	K562	blood:
45	chr8:2564777..2566535-chr8:2633073..2636041,2	K562	blood:
46	chr8:2660410..2661970-chr8:2666525..2669002,2	K562	blood:
47	chr8:2621028..2623848-chr8:2627969..2631873,3	K562	blood:
48	chr8:2607558..2609833-chr8:2620267..2622243,2	K562	blood:
49	chr8:2629126..2630939-chr8:2635641..2638052,2	K562	blood:
50	chr8:2662992..2664821-chr8:2705336..2706995,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-4	chr8:2665889-2665956	ENSG00000253853
2	lnc-MYOM2-4	chr8:2662104-2662227	ENSG00000253853
3	lnc-MYOM2-4	chr8:2662104-2662202	XLOC_006690

No data

Variant related genes	Relation type
ENSG00000253853	chromatin interactions
ENSG00000254319	chromatin interactions

Extended variants
information (count: 3129 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:3129 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13251661	chr8:2611142-2611143	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557896825	chr8:2611160-2611161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138432015	chr8:2611168-2611169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577866235	chr8:2611199-2611200	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534093375	chr8:2611205-2611206	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553530793	chr8:2611215-2611216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573278440	chr8:2611239-2611240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs367581357	chr8:2611251-2611252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535786978	chr8:2611263-2611264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143027912	chr8:2611327-2611328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549746556	chr8:2611329-2611330	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562255543	chr8:2611356-2611357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575691333	chr8:2611379-2611380	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544403198	chr8:2611420-2611421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564700184	chr8:2611436-2611437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533495325	chr8:2611437-2611438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185994092	chr8:2611439-2611440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10111475	chr8:2611448-2611449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529329342	chr8:2611455-2611456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549364801	chr8:2611482-2611483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569385839	chr8:2611486-2611487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191102397	chr8:2611489-2611490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551337075	chr8:2611523-2611524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571412950	chr8:2611543-2611544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73496968	chr8:2611544-2611545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551807106	chr8:2611554-2611555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554053743	chr8:2611573-2611574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183812396	chr8:2611584-2611585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535851592	chr8:2611588-2611589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555692801	chr8:2611604-2611605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575778311	chr8:2611643-2611644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565461197	chr8:2611654-2611655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369426769	chr8:2611670-2611671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371953452	chr8:2611672-2611673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534478129	chr8:2611678-2611679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140080250	chr8:2611681-2611682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578107449	chr8:2611685-2611686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6998935	chr8:2611707-2611708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145597313	chr8:2611717-2611718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557368534	chr8:2611721-2611722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187982369	chr8:2611729-2611730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536995893	chr8:2611785-2611786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375105256	chr8:2611809-2611810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549404053	chr8:2611822-2611823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7000432	chr8:2611830-2611831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138107613	chr8:2611835-2611836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142584771	chr8:2611848-2611849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571619466	chr8:2611849-2611850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527495034	chr8:2611864-2611865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547232123	chr8:2611866-2611867	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
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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2609800-2612200	Weak transcription	K562	blood
2	chr8:2612200-2613000	ZNF genes & repeats	K562	blood
3	chr8:2616600-2620000	Weak transcription	K562	blood
4	chr8:2618800-2619400	Enhancers	Fetal Intestine Small	intestine
5	chr8:2619400-2619800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:2619800-2620200	Enhancers	Fetal Intestine Small	intestine
7	chr8:2620000-2621600	Enhancers	K562	blood
8	chr8:2621600-2626200	Weak transcription	K562	blood
9	chr8:2622600-2623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:2623200-2623400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:2623600-2625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:2625000-2625200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:2625000-2625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:2625200-2625400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:2625400-2626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:2625600-2626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:2626200-2626800	Enhancers	K562	blood
18	chr8:2626800-2627000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:2626800-2627200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:2626800-2627200	Flanking Active TSS	K562	blood
21	chr8:2627000-2627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:2627200-2627600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:2627200-2628200	Enhancers	K562	blood
24	chr8:2627200-2628400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:2627600-2628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:2627800-2628000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:2627800-2628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:2627800-2629800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:2628000-2628800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:2628000-2628800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:2628000-2629400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:2628000-2629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:2628000-2629600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:2628000-2629600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:2628200-2629000	Flanking Active TSS	K562	blood
36	chr8:2628200-2629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:2628200-2629800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:2628400-2629200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:2628400-2629600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:2628600-2629400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:2629000-2629800	Enhancers	K562	blood
42	chr8:2629800-2634400	Weak transcription	K562	blood
43	chr8:2634400-2634600	Enhancers	K562	blood
44	chr8:2634600-2635200	Genic enhancers	K562	blood
45	chr8:2635200-2635800	Enhancers	K562	blood
46	chr8:2635800-2640600	Weak transcription	K562	blood
47	chr8:2640600-2642200	Enhancers	K562	blood
48	chr8:2641200-2641800	Enhancers	Fetal Heart	heart
49	chr8:2641800-2645200	Weak transcription	Fetal Heart	heart
50	chr8:2642200-2644000	Weak transcription	K562	blood

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