Variant report

Variant	esv3317607
Chromosome Location	chr10:44204492-44206069
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	chr10:44204490..44205996-chr10:44207800..44210534,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138902629	chr10:44204496-44204497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527626953	chr10:44204504-44204505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200015817	chr10:44204513-44204514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200945183	chr10:44204516-44204517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147140800	chr10:44204524-44204525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113048695	chr10:44204531-44204532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552498433	chr10:44204539-44204540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570690141	chr10:44204547-44204548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538022883	chr10:44204550-44204551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550313726	chr10:44204556-44204557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117461432	chr10:44204587-44204588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183243938	chr10:44204608-44204609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187875335	chr10:44204615-44204616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572344219	chr10:44204616-44204617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75990824	chr10:44204623-44204624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79377820	chr10:44204624-44204625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117759989	chr10:44204625-44204626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78268981	chr10:44204651-44204652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76365037	chr10:44204652-44204653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75810395	chr10:44204653-44204654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75933568	chr10:44204664-44204665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77648297	chr10:44204677-44204678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79037115	chr10:44204679-44204680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112581529	chr10:44204688-44204689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201699696	chr10:44204720-44204721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543579278	chr10:44204748-44204749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111969481	chr10:44204771-44204772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113804896	chr10:44204776-44204777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112288498	chr10:44204783-44204784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113973205	chr10:44204784-44204785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113108605	chr10:44204840-44204841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111804069	chr10:44204849-44204850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111325547	chr10:44204855-44204856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113076704	chr10:44204860-44204861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112458822	chr10:44204867-44204868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112375686	chr10:44204868-44204869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555990621	chr10:44204895-44204896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113528527	chr10:44204896-44204897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574436150	chr10:44204898-44204899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112715007	chr10:44204904-44204905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56104909	chr10:44204910-44204911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111311285	chr10:44204911-44204912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541552710	chr10:44204922-44204923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372943338	chr10:44204923-44204924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112295232	chr10:44204932-44204933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111552457	chr10:44204939-44204940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112029583	chr10:44204942-44204943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373148294	chr10:44204951-44204952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112699911	chr10:44204985-44204986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112217026	chr10:44204995-44204996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44203000-44204600	Enhancers	Osteobl	bone
2	chr10:44203200-44204600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:44203200-44204600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:44203400-44207200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:44204200-44205800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:44204200-44207000	Weak transcription	Spleen	Spleen

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