Variant report

Variant	esv1816330
Chromosome Location	chr10:43999354-44002994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192403945	chr10:43999370-43999371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4550171	chr10:43999394-43999395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561813531	chr10:43999444-43999445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573820323	chr10:43999475-43999476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540981308	chr10:43999479-43999480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137966397	chr10:43999495-43999496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80034252	chr10:43999528-43999529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113919670	chr10:43999574-43999575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71505679	chr10:43999656-43999657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563890151	chr10:43999661-43999662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188225872	chr10:43999665-43999666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116737330	chr10:43999719-43999720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181058022	chr10:43999724-43999725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113753426	chr10:43999737-43999738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369589806	chr10:43999742-43999743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201180197	chr10:43999744-43999745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377680448	chr10:43999745-43999746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60343677	chr10:43999748-43999749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35795823	chr10:43999759-43999760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529005980	chr10:43999760-43999761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11238571	chr10:43999768-43999769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547358954	chr10:43999810-43999811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565583517	chr10:43999827-43999828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539696039	chr10:43999890-43999891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557803535	chr10:43999898-43999899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376607160	chr10:43999919-43999920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569633517	chr10:43999942-43999943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186339092	chr10:43999957-43999958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555147103	chr10:43999960-43999961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3006405	chr10:43999963-43999964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189675472	chr10:44000011-44000012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113276571	chr10:44000045-44000046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185742362	chr10:44000085-44000086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542328152	chr10:44000107-44000108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199569959	chr10:44000170-44000171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67546046	chr10:44000171-44000172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79058631	chr10:44000173-44000174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79699226	chr10:44000174-44000175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79897564	chr10:44000181-44000182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531233197	chr10:44000188-44000189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369016124	chr10:44000275-44000276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61860006	chr10:44000297-44000298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373127930	chr10:44000311-44000312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543200151	chr10:44000314-44000315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369159484	chr10:44000344-44000345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150557708	chr10:44000345-44000346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61860007	chr10:44000382-44000383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113578811	chr10:44000434-44000435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565656663	chr10:44000438-44000439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532303018	chr10:44000471-44000472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43987400-44003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:43994600-44002200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:43996400-44002400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:43998000-44005000	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:43999400-43999600	ZNF genes & repeats	Brain Angular Gyrus	brain
6	chr10:43999600-44000000	Weak transcription	Brain Angular Gyrus	brain
7	chr10:44000400-44002800	Weak transcription	Ovary	ovary
8	chr10:44002000-44002400	Enhancers	Fetal Heart	heart
9	chr10:44002200-44003000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
10	chr10:44002400-44002800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
11	chr10:44002800-44003200	Weak transcription	Brain Cingulate Gyrus	brain

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