Variant report

Variant	nsv818765
Chromosome Location	chr10:57170638-57180859
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	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 61 )

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	rs10763198	chr10:57170638-57170639	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180954810	chr10:57170650-57170651	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148656001	chr10:57170682-57170683	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577245901	chr10:57170684-57170685	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs36029275	chr10:57170685-57170686	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543071926	chr10:57170706-57170707	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs35966512	chr10:57170724-57170725	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550510153	chr10:57170733-57170734	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563261519	chr10:57170750-57170751	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568792665	chr10:57170761-57170762	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185950261	chr10:57170861-57170862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542660610	chr10:57170890-57170891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562317382	chr10:57170891-57170892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142233730	chr10:57170928-57170929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548145031	chr10:57170932-57170933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541354285	chr10:57170949-57170950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564750435	chr10:57171003-57171004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558526045	chr10:57171024-57171025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533638892	chr10:57171037-57171038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189788611	chr10:57171042-57171043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536258888	chr10:57171046-57171047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150793193	chr10:57171067-57171068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571420663	chr10:57171128-57171129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538910862	chr10:57171140-57171141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529411491	chr10:57171206-57171207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549446208	chr10:57171213-57171214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565572122	chr10:57171244-57171245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182784119	chr10:57171245-57171246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554919371	chr10:57171259-57171260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139060037	chr10:57171275-57171276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55845716	chr10:57171277-57171278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537311683	chr10:57171303-57171304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11004837	chr10:57171320-57171321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs573580401	chr10:57171322-57171323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542400882	chr10:57171350-57171351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553089714	chr10:57171405-57171406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149876901	chr10:57171418-57171419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185697560	chr10:57171441-57171442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564628145	chr10:57171494-57171495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544054400	chr10:57171547-57171548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533458679	chr10:57171577-57171578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190806383	chr10:57171605-57171606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563570344	chr10:57171606-57171607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529270463	chr10:57171608-57171609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549091645	chr10:57171655-57171656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565858625	chr10:57171713-57171714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11818876	chr10:57171740-57171741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146408555	chr10:57171763-57171764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571062512	chr10:57171792-57171793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139869742	chr10:57171827-57171828	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Autism	20858243	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57169600-57170800	Enhancers	Brain Germinal Matrix	brain
2	chr10:57169800-57171200	Enhancers	HUVEC	blood vessel
3	chr10:57170000-57170800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:57170000-57170800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:57170000-57170800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:57170000-57170800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:57170000-57170800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr10:57170000-57170800	Enhancers	Brain Substantia Nigra	brain
9	chr10:57170000-57170800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:57170000-57171000	Enhancers	Fetal Heart	heart
11	chr10:57170000-57171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:57170200-57170800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:57170200-57170800	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr10:57170400-57170800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:57170400-57170800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr10:57170400-57171000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:57170400-57171000	Enhancers	Fetal Brain Male	brain
18	chr10:57170600-57170800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:57170600-57170800	Enhancers	Brain Anterior Caudate	brain
20	chr10:57170600-57171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:57170800-57171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:57170800-57171800	Weak transcription	Brain Germinal Matrix	brain
23	chr10:57170800-57172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:57171800-57172000	Enhancers	Brain Germinal Matrix	brain

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