Variant report

Variant	nsv516038
Chromosome Location	chr10:56881508-56993816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:56930146..56932824-chr10:56934216..56936608,2	K562	blood:
2	chr10:56926801..56928606-chr10:56934525..56937343,2	K562	blood:
3	chr10:56926801..56928606-chr10:56934525..56937343,2	K562	blood:
4	chr10:56930146..56932824-chr10:56934216..56936608,2	K562	blood:

Extended variants
information (count: 1053 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555773680	chr10:56901243-56901244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10825472	chr10:56901246-56901247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7914330	chr10:56901252-56901253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557982289	chr10:56901305-56901306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191041718	chr10:56901357-56901358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145252104	chr10:56901360-56901361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563554936	chr10:56901366-56901367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58529830	chr10:56901437-56901438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35454941	chr10:56901541-56901542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542251479	chr10:56901614-56901615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113971886	chr10:56901620-56901621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71504003	chr10:56901621-56901622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398096972	chr10:56901630-56901631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7900671	chr10:56901656-56901657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539610702	chr10:56901702-56901703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551420991	chr10:56901724-56901725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182727876	chr10:56901731-56901732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564654060	chr10:56901775-56901776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76918264	chr10:56901778-56901779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111704836	chr10:56903200-56903201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574895054	chr10:56903255-56903256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115834026	chr10:56903282-56903283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562185063	chr10:56903322-56903323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560663111	chr10:56903345-56903346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1936454	chr10:56903361-56903362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201740002	chr10:56903391-56903392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1936455	chr10:56903450-56903451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1936456	chr10:56903458-56903459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188207798	chr10:56903482-56903483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367837439	chr10:56903483-56903484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571623102	chr10:56903498-56903499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530939978	chr10:56903502-56903503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35401733	chr10:56903514-56903515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374750677	chr10:56903534-56903535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533318399	chr10:56903537-56903538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1936457	chr10:56903577-56903578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5785116	chr10:56903583-56903584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371608830	chr10:56903584-56903585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536425273	chr10:56903616-56903617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191896530	chr10:56903663-56903664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150079391	chr10:56903695-56903696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184036736	chr10:56903718-56903719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200000604	chr10:56903772-56903773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200787510	chr10:56903776-56903777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111850733	chr10:56903777-56903778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397971584	chr10:56903784-56903785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373512493	chr10:56903785-56903786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376407733	chr10:56903786-56903787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374857660	chr10:56903787-56903788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1444669	chr10:56903794-56903795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56901200-56901800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:56903200-56903800	Enhancers	HMEC	breast
3	chr10:56903400-56904400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:56903400-56906400	Enhancers	HUVEC	blood vessel
5	chr10:56903800-56904200	Flanking Active TSS	HMEC	breast
6	chr10:56904000-56904400	Enhancers	Hela-S3	cervix
7	chr10:56904200-56905000	Enhancers	HMEC	breast
8	chr10:56905000-56905600	Weak transcription	HMEC	breast
9	chr10:56905600-56906400	Enhancers	HMEC	breast
10	chr10:56905600-56906400	Enhancers	NH-A	brain
11	chr10:56905800-56906600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:56914400-56915000	Enhancers	Fetal Heart	heart
13	chr10:56915000-56918200	Weak transcription	Fetal Heart	heart
14	chr10:56918200-56919000	Enhancers	Fetal Heart	heart
15	chr10:56918400-56918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:56918400-56918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:56918800-56920600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:56920000-56920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr10:56920000-56920800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:56920000-56921800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr10:56920200-56920800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:56920200-56921400	Enhancers	HMEC	breast
23	chr10:56920400-56921200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:56920400-56921600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:56920600-56920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:56920600-56921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:56920800-56922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:56921200-56921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:56921600-56922800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:56922200-56922400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:56922400-56922600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr10:56932200-56932600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:56932200-56932800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:56932200-56933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:56932200-56933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr10:56932600-56933000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr10:56932600-56933000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:56932800-56933000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:56932800-56934000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr10:56933000-56934000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:56933000-56934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:56933000-56934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:56933000-56934400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr10:56933200-56933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:56933600-56934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:56934000-56934200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:56934000-56934400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:56934000-56934600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr10:56934000-56934600	Enhancers	Fetal Stomach	stomach
50	chr10:56934200-56934400	Enhancers	HUES6 Cell Line	embryonic stem cell

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