Variant report

Variant	esv3345974
Chromosome Location	chr10:55139871-55141994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536066366	chr10:55139928-55139929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7474815	chr10:55139973-55139974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377211586	chr10:55140018-55140019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75147614	chr10:55140036-55140037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199782236	chr10:55140102-55140103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541351318	chr10:55140223-55140224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76710775	chr10:55140234-55140235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61284846	chr10:55140244-55140245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543110478	chr10:55140262-55140263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563400196	chr10:55140273-55140274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529050965	chr10:55140291-55140292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549215777	chr10:55140343-55140344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559622294	chr10:55140407-55140408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373558302	chr10:55140416-55140417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79427144	chr10:55140441-55140442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10825010	chr10:55140469-55140470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138170835	chr10:55140525-55140526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370414657	chr10:55140527-55140528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570147952	chr10:55140532-55140533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535585817	chr10:55140596-55140597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555516336	chr10:55140632-55140633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149129778	chr10:55140635-55140636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60637312	chr10:55140639-55140640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12257882	chr10:55140640-55140641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200690177	chr10:55140655-55140656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201640434	chr10:55140675-55140676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10825011	chr10:55140676-55140677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2384242	chr10:55140693-55140694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4520502	chr10:55140718-55140719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200772421	chr10:55140780-55140781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199593447	chr10:55140781-55140782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528539578	chr10:55140794-55140795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60054026	chr10:55140795-55140796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200767919	chr10:55140796-55140797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201232962	chr10:55140801-55140802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569380374	chr10:55140860-55140861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5784996	chr10:55140957-55140958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3041312	chr10:55140958-55140959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577519790	chr10:55141000-55141001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543428787	chr10:55141001-55141002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2384243	chr10:55141026-55141027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369272331	chr10:55141029-55141030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11003604	chr10:55141057-55141058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573666004	chr10:55141077-55141078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113280234	chr10:55141103-55141104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7093381	chr10:55141139-55141140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528337514	chr10:55141146-55141147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376923081	chr10:55141156-55141157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112751989	chr10:55141181-55141182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572662598	chr10:55141236-55141237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55130800-55141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:55139600-55140200	Enhancers	Fetal Intestine Small	intestine

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