Variant report

Variant	esv11810
Chromosome Location	chr10:55269926-55271567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116211060	chr10:55269930-55269931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148144652	chr10:55269984-55269985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36068349	chr10:55270005-55270006	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371681067	chr10:55270017-55270018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189843909	chr10:55270019-55270020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181295510	chr10:55270047-55270048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs141964152	chr10:55270074-55270075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564841552	chr10:55270112-55270113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143089903	chr10:55270161-55270162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371004186	chr10:55270166-55270167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376356423	chr10:55270179-55270180	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150661088	chr10:55270182-55270183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563801934	chr10:55270199-55270200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73233409	chr10:55270200-55270201	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12253401	chr10:55270212-55270213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559657676	chr10:55270230-55270231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73233410	chr10:55270242-55270243	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552062399	chr10:55270257-55270258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs73233412	chr10:55270274-55270275	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185943903	chr10:55270321-55270322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138200179	chr10:55270323-55270324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367919635	chr10:55270327-55270328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555408049	chr10:55270334-55270335	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140037683	chr10:55270449-55270450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190704997	chr10:55270457-55270458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73233413	chr10:55270463-55270464	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181684038	chr10:55270484-55270485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73233414	chr10:55270584-55270585	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76963322	chr10:55270609-55270610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs351793	chr10:55270610-55270611	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558421366	chr10:55270612-55270613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575193183	chr10:55270650-55270651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143345805	chr10:55270667-55270668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543778730	chr10:55270683-55270684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563568145	chr10:55270704-55270705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546472604	chr10:55270725-55270726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550556745	chr10:55270766-55270767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs73233416	chr10:55270768-55270769	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76256533	chr10:55270778-55270779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559895458	chr10:55270782-55270783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs12360368	chr10:55270808-55270809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10762988	chr10:55270819-55270820	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73233419	chr10:55270831-55270832	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139462215	chr10:55270847-55270848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531141146	chr10:55270861-55270862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73233420	chr10:55270862-55270863	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368547884	chr10:55270906-55270907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567120209	chr10:55270908-55270909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs66825416	chr10:55270917-55270918	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371604837	chr10:55270929-55270930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Dysmorphic features	21948486	CNVD
Epilepsy	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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55259400-55272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:55264200-55277200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:55268600-55270200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:55269000-55270200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:55269200-55270000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:55269400-55270000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr10:55270000-55271200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr10:55270200-55271600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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