Variant report

Variant	esv3347549
Chromosome Location	chr10:54003746-54005744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74135378	chr10:54003769-54003770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556446343	chr10:54003811-54003812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140515392	chr10:54003851-54003852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16928359	chr10:54003856-54003857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74135379	chr10:54003876-54003877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572335890	chr10:54003943-54003944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541557518	chr10:54004004-54004005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558280988	chr10:54004011-54004012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577115641	chr10:54004086-54004087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11001339	chr10:54004121-54004122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs80313648	chr10:54004133-54004134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574771036	chr10:54004156-54004157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562792807	chr10:54004213-54004214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1213068	chr10:54004278-54004279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201543060	chr10:54004291-54004292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36055516	chr10:54004292-54004293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67513214	chr10:54004293-54004294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56206870	chr10:54004294-54004295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541742071	chr10:54004305-54004306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72787337	chr10:54004343-54004344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114246473	chr10:54004358-54004359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12218397	chr10:54004393-54004394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570169532	chr10:54004429-54004430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199767178	chr10:54004431-54004432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199582721	chr10:54004437-54004438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529689371	chr10:54004455-54004456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35704644	chr10:54004464-54004465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200499458	chr10:54004465-54004466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34146864	chr10:54004468-54004469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373975566	chr10:54004519-54004520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72255973	chr10:54004537-54004538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12766520	chr10:54004538-54004539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367727764	chr10:54004541-54004542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183889824	chr10:54004543-54004544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549937434	chr10:54004545-54004546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189580424	chr10:54004561-54004562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369399292	chr10:54004575-54004576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71032633	chr10:54004581-54004582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368550102	chr10:54004582-54004583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180809928	chr10:54004585-54004586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371964156	chr10:54004591-54004592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375231873	chr10:54004597-54004598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201631151	chr10:54004610-54004611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61034239	chr10:54004612-54004613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66599448	chr10:54004615-54004616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555778261	chr10:54004656-54004657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1194504	chr10:54004659-54004660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71032634	chr10:54004672-54004673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554020395	chr10:54004682-54004683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113545391	chr10:54004703-54004704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Chronic lymphocytic leukemia	21546498	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta

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