Variant report

Variant	nsv470944
Chromosome Location	chr10:56642818-56682226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:56637516..56639044-chr10:56640862..56643411,2	K562	blood:

Extended variants
information (count: 444 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553013904	chr10:56654303-56654304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185732166	chr10:56654321-56654322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11004625	chr10:56654322-56654323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs66511024	chr10:56654335-56654336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72798539	chr10:56654403-56654404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146237758	chr10:56654511-56654512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183078777	chr10:56654558-56654559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539036167	chr10:56654573-56654574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543656185	chr10:56654579-56654580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563630251	chr10:56654708-56654709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73259942	chr10:56654712-56654713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80110230	chr10:56654752-56654753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557222065	chr10:56662003-56662004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147845288	chr10:56662016-56662017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187969287	chr10:56662043-56662044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546203702	chr10:56662105-56662106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191274811	chr10:56662132-56662133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532598030	chr10:56662143-56662144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79597548	chr10:56662224-56662225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545503436	chr10:56662277-56662278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558608400	chr10:56662282-56662283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74457297	chr10:56662293-56662294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565407947	chr10:56662299-56662300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79372152	chr10:56662312-56662313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80238485	chr10:56662319-56662320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76177506	chr10:56662323-56662324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141178598	chr10:56662450-56662451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202193110	chr10:56662495-56662496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556785041	chr10:56662537-56662538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150295275	chr10:56662538-56662539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546242216	chr10:56662568-56662569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566445055	chr10:56662596-56662597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1454471	chr10:56662603-56662604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551849772	chr10:56662606-56662607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568651175	chr10:56662629-56662630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75414626	chr10:56662690-56662691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374665780	chr10:56662772-56662773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544396873	chr10:56662797-56662798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149484289	chr10:56662904-56662905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567833074	chr10:56662913-56662914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117833151	chr10:56662922-56662923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114536281	chr10:56662924-56662925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201708690	chr10:56662948-56662949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574995012	chr10:56662960-56662961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573170521	chr10:56663022-56663023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201682336	chr10:56663030-56663031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201919389	chr10:56663031-56663032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184109274	chr10:56663054-56663055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1542351	chr10:56663191-56663192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575820012	chr10:56663202-56663203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Colorectal cancer	16774939	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56654200-56654800	Enhancers	Fetal Heart	heart
2	chr10:56662000-56663000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:56662200-56662600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr10:56662200-56663000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:56662200-56663000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:56662400-56662800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:56662400-56663000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:56662800-56666600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:56663000-56666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:56663000-56674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:56663600-56663800	Enhancers	Brain Germinal Matrix	brain
12	chr10:56664400-56667000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:56665200-56666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:56665400-56665800	Enhancers	Brain Germinal Matrix	brain
15	chr10:56666600-56667000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr10:56666600-56667000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr10:56666600-56667000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr10:56669000-56669400	Enhancers	Fetal Muscle Trunk	muscle
19	chr10:56673800-56674200	Enhancers	HUVEC	blood vessel

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