Variant report

Variant	esv21359
Chromosome Location	chr10:43027699-43029803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544368366	chr10:43027708-43027709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562543660	chr10:43027717-43027718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34957941	chr10:43027720-43027721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371077571	chr10:43027738-43027739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541712032	chr10:43027741-43027742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374695027	chr10:43027748-43027749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs210254	chr10:43027774-43027775	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs527654459	chr10:43027807-43027808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552320573	chr10:43027832-43027833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11597305	chr10:43027839-43027840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146187421	chr10:43027854-43027855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550310603	chr10:43027869-43027870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6593371	chr10:43027888-43027889	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373178514	chr10:43027902-43027903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139064897	chr10:43027913-43027914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376825810	chr10:43027925-43027926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113586375	chr10:43027974-43027975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566411581	chr10:43027989-43027990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544897529	chr10:43028017-43028018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533748212	chr10:43028060-43028061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558291869	chr10:43028077-43028078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187463912	chr10:43028154-43028155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565056537	chr10:43028165-43028166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537552899	chr10:43028186-43028187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143980532	chr10:43028190-43028191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574289724	chr10:43028193-43028194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75812399	chr10:43028237-43028238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553632618	chr10:43028267-43028268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572264638	chr10:43028276-43028277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369501299	chr10:43028376-43028377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7910294	chr10:43028432-43028433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564334852	chr10:43028499-43028500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531773287	chr10:43028566-43028567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192718625	chr10:43028582-43028583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562195376	chr10:43028583-43028584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529495511	chr10:43028633-43028634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555620833	chr10:43028653-43028654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11597902	chr10:43028691-43028692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184156772	chr10:43028724-43028725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552109020	chr10:43028763-43028764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541273208	chr10:43028802-43028803	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188830513	chr10:43028839-43028840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376441242	chr10:43028869-43028870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560332131	chr10:43028874-43028875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537892942	chr10:43028887-43028888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115566751	chr10:43028890-43028891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567846249	chr10:43028912-43028913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs151184419	chr10:43028940-43028941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192091086	chr10:43028946-43028947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184632795	chr10:43028952-43028953	Weak transcription ZNF genes & repeats	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
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43019600-43034400	Weak transcription	Fetal Thymus	thymus
2	chr10:43020400-43047000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr10:43020600-43039200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:43020600-43047000	Weak transcription	HSMM	muscle
5	chr10:43020800-43034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:43021600-43028200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:43021600-43028400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:43021600-43028600	Weak transcription	Brain Angular Gyrus	brain
9	chr10:43021600-43047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:43027000-43028200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:43027000-43029600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr10:43027000-43033200	ZNF genes & repeats	Liver	Liver
13	chr10:43027200-43028600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr10:43027200-43029200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr10:43027400-43027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:43027600-43027800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:43027600-43028800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:43027600-43034000	Weak transcription	Ovary	ovary
19	chr10:43027800-43029200	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr10:43027800-43029400	Weak transcription	Pancreas	Pancrea
21	chr10:43028000-43028200	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr10:43028200-43028600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr10:43028400-43029600	ZNF genes & repeats	Fetal Lung	lung
24	chr10:43028600-43028800	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr10:43029000-43034800	Weak transcription	K562	blood
26	chr10:43029200-43029600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
27	chr10:43029400-43029600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr10:43029600-43030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:43029600-43034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:43029600-43034600	Weak transcription	Brain Cingulate Gyrus	brain

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