Variant report

Variant	nsv609708
Chromosome Location	chr8:2595978-2652428
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:93)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:2578154..2579763-chr8:2619502..2622316,2	K562	blood:
2	chr8:2599331..2602317-chr8:2606711..2608405,2	K562	blood:
3	chr8:2591672..2593360-chr8:2600937..2603510,2	K562	blood:
4	chr8:2626526..2629237-chr8:2643013..2645044,2	K562	blood:
5	chr8:2585736..2588066-chr8:2601157..2603810,2	K562	blood:
6	chr8:2594321..2595985-chr8:2596545..2598928,2	K562	blood:
7	chr8:2597895..2600148-chr8:2611111..2612738,2	K562	blood:
8	chr8:2640358..2642193-chr8:2645128..2647083,3	K562	blood:
9	chr8:2598798..2600959-chr8:2603763..2608405,4	K562	blood:
10	chr8:2596453..2598067-chr8:2617789..2620635,2	K562	blood:
11	chr8:2631918..2634126-chr8:2639188..2641827,3	K562	blood:
12	chr8:2594821..2596661-chr8:2659400..2661815,2	K562	blood:
13	chr8:2589525..2591658-chr8:2644551..2646934,3	K562	blood:
14	chr8:2613070..2615435-chr8:2618441..2620746,3	K562	blood:
15	chr8:2640358..2642193-chr8:2645128..2647083,3	K562	blood:
16	chr8:2593399..2598428-chr8:2599653..2604121,4	K562	blood:
17	chr8:2598798..2600959-chr8:2603763..2608405,4	K562	blood:
18	chr8:2582656..2585104-chr8:2624688..2627704,3	K562	blood:
19	chr8:2631918..2634126-chr8:2639992..2641827,2	K562	blood:
20	chr8:2578568..2580077-chr8:2629449..2631121,2	K562	blood:
21	chr8:2629126..2630939-chr8:2635641..2638052,2	K562	blood:
22	chr8:2584493..2586709-chr8:2648044..2650794,2	K562	blood:
23	chr8:2582743..2584939-chr8:2639124..2641022,2	K562	blood:
24	chr8:2583662..2585649-chr8:2628654..2630173,2	K562	blood:
25	chr8:2613070..2615435-chr8:2618441..2620746,3	K562	blood:
26	chr8:2620299..2623099-chr8:2627454..2628985,2	K562	blood:
27	chr8:2606417..2608305-chr8:6263383..6265567,2	K562	blood:
28	chr8:2581583..2583717-chr8:2629779..2632659,2	K562	blood:
29	chr8:2626526..2629237-chr8:2643013..2645044,2	K562	blood:
30	chr8:2599818..2601466-chr8:2615794..2618126,2	K562	blood:
31	chr8:2588399..2590579-chr8:2619953..2621933,2	K562	blood:
32	chr8:2646083..2648399-chr8:2651265..2652785,2	K562	blood:
33	chr8:2582217..2585126-chr8:2645115..2648033,3	K562	blood:
34	chr8:2629126..2630939-chr8:2635641..2638052,2	K562	blood:
35	chr8:2631963..2633946-chr8:2635441..2638844,4	K562	blood:
36	chr8:2590579..2593269-chr8:2597345..2599839,2	K562	blood:
37	chr8:2647477..2649422-chr8:2653897..2655519,2	K562	blood:
38	chr8:2582217..2584470-chr8:2644052..2646887,2	K562	blood:
39	chr8:2642351..2644132-chr8:2644764..2647688,2	K562	blood:
40	chr8:2624634..2626171-chr8:2626385..2627921,2	K562	blood:
41	chr8:2617946..2621855-chr8:2622304..2626900,6	K562	blood:
42	chr8:2592045..2593873-chr8:2639139..2641093,2	K562	blood:
43	chr8:2642351..2644132-chr8:2644764..2647688,2	K562	blood:
44	chr8:2643241..2645944-chr8:2661981..2664507,2	K562	blood:
45	chr8:2624634..2626171-chr8:2626385..2627921,2	K562	blood:
46	chr8:2585106..2587038-chr8:2631319..2633373,2	K562	blood:
47	chr8:2576472..2578839-chr8:2602489..2604209,2	K562	blood:
48	chr8:2599331..2602317-chr8:2606711..2608405,2	K562	blood:
49	chr8:2607594..2609173-chr8:2610051..2612762,2	K562	blood:
50	chr8:2588732..2590770-chr8:2607526..2610029,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147316	chromatin interactions
ENSG00000254319	chromatin interactions
ENSG00000253853	chromatin interactions
ENSG00000246089	chromatin interactions

Extended variants
information (count: 2609 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:2609 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11988178	chr8:2595978-2595979	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149882326	chr8:2595984-2595985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551940229	chr8:2595986-2595987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551217973	chr8:2596021-2596022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs59825062	chr8:2596023-2596024	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181691560	chr8:2596060-2596061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186809764	chr8:2596098-2596099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs17755518	chr8:2596106-2596107	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74354433	chr8:2596153-2596154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs550211950	chr8:2596155-2596156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371881357	chr8:2596158-2596159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs78057066	chr8:2596207-2596208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539124511	chr8:2596219-2596220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200752985	chr8:2596231-2596232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558800103	chr8:2596236-2596237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs397776457	chr8:2596241-2596242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28898414	chr8:2596263-2596264	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556029511	chr8:2596267-2596268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190388852	chr8:2596284-2596285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554315123	chr8:2596295-2596296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145543513	chr8:2596306-2596307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572291580	chr8:2596307-2596308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112830568	chr8:2596308-2596309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556544111	chr8:2596309-2596310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576761249	chr8:2596310-2596311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545926569	chr8:2596314-2596315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559171744	chr8:2596315-2596316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181784414	chr8:2596317-2596318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73659546	chr8:2596336-2596337	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11995648	chr8:2596341-2596342	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556894472	chr8:2596342-2596343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550448489	chr8:2596345-2596346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570078676	chr8:2596367-2596368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185128768	chr8:2596391-2596392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538266142	chr8:2596403-2596404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73496932	chr8:2596409-2596410	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs199990270	chr8:2596449-2596450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554809080	chr8:2596457-2596458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144871382	chr8:2596483-2596484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535083527	chr8:2596488-2596489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75885570	chr8:2596492-2596493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs567869917	chr8:2596502-2596503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144562758	chr8:2596513-2596514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11985078	chr8:2596541-2596542	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576807798	chr8:2596544-2596545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12541415	chr8:2596560-2596561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552908100	chr8:2596577-2596578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572864354	chr8:2596587-2596588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112560053	chr8:2596596-2596597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141370565	chr8:2596640-2596641	ZNF genes & repeats	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2592400-2596200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:2593200-2598800	ZNF genes & repeats	K562	blood
3	chr8:2609400-2609800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:2609400-2609800	ZNF genes & repeats	Esophagus	oesophagus
5	chr8:2609400-2609800	ZNF genes & repeats	Pancreas	Pancrea
6	chr8:2609800-2612200	Weak transcription	K562	blood
7	chr8:2612200-2613000	ZNF genes & repeats	K562	blood
8	chr8:2616600-2620000	Weak transcription	K562	blood
9	chr8:2618800-2619400	Enhancers	Fetal Intestine Small	intestine
10	chr8:2619400-2619800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:2619800-2620200	Enhancers	Fetal Intestine Small	intestine
12	chr8:2620000-2621600	Enhancers	K562	blood
13	chr8:2621600-2626200	Weak transcription	K562	blood
14	chr8:2622600-2623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:2623200-2623400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:2623600-2625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:2625000-2625200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:2625000-2625600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:2625200-2625400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:2625400-2626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:2625600-2626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:2626200-2626800	Enhancers	K562	blood
23	chr8:2626800-2627000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:2626800-2627200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:2626800-2627200	Flanking Active TSS	K562	blood
26	chr8:2627000-2627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:2627200-2627600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:2627200-2628200	Enhancers	K562	blood
29	chr8:2627200-2628400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:2627600-2628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:2627800-2628000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr8:2627800-2628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:2627800-2629800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:2628000-2628800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:2628000-2628800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:2628000-2629400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:2628000-2629400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:2628000-2629600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:2628000-2629600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:2628200-2629000	Flanking Active TSS	K562	blood
41	chr8:2628200-2629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:2628200-2629800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:2628400-2629200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:2628400-2629600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:2628600-2629400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:2629000-2629800	Enhancers	K562	blood
47	chr8:2629800-2634400	Weak transcription	K562	blood
48	chr8:2634400-2634600	Enhancers	K562	blood
49	chr8:2634600-2635200	Genic enhancers	K562	blood
50	chr8:2635200-2635800	Enhancers	K562	blood

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