Variant report

Variant	esv3504285
Chromosome Location	chr10:55018601-55019104
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	chr10:55015124..55017354-chr10:55018929..55021209,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572566824	chr10:55018662-55018663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147593758	chr10:55018683-55018684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73356207	chr10:55018688-55018689	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2384195	chr10:55018731-55018732	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376946236	chr10:55018740-55018741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146261211	chr10:55018741-55018742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10824962	chr10:55018750-55018751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75281891	chr10:55018770-55018771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370524453	chr10:55018775-55018776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562974325	chr10:55018791-55018792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528929960	chr10:55018808-55018809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372149879	chr10:55018814-55018815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs367578793	chr10:55018839-55018840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201844044	chr10:55018862-55018863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558348916	chr10:55018908-55018909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147838765	chr10:55018915-55018916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374701471	chr10:55018942-55018943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559461323	chr10:55018962-55018963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12243146	chr10:55018997-55018998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12243149	chr10:55019007-55019008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528277121	chr10:55019014-55019015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs192383344	chr10:55019048-55019049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139489392	chr10:55019060-55019061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182145362	chr10:55019065-55019066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55018200-55019400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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