Variant report

Variant	nsv947615
Chromosome Location	chr10:55107246-55107910
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	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:
2	chr10:55105553..55107958-chr10:55109358..55111015,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545113987	chr10:55107316-55107317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565073249	chr10:55107351-55107352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530988752	chr10:55107359-55107360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34559551	chr10:55107412-55107413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544451114	chr10:55107421-55107422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113870598	chr10:55107471-55107472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183904440	chr10:55107509-55107510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111990156	chr10:55107526-55107527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546231891	chr10:55107573-55107574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188849231	chr10:55107610-55107611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74462641	chr10:55107625-55107626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192618653	chr10:55107653-55107654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559509847	chr10:55107671-55107672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568999942	chr10:55107701-55107702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112731754	chr10:55107788-55107789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7100563	chr10:55107805-55107806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs72787201	chr10:55107809-55107810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534118819	chr10:55107835-55107836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553060458	chr10:55107841-55107842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573176710	chr10:55107846-55107847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538676122	chr10:55107872-55107873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558624663	chr10:55107880-55107881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55104400-55108000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr10:55104400-55109400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:55104400-55117400	Weak transcription	H1 Cell Line	embryonic stem cell

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