Variant report

Variant	nsv895413
Chromosome Location	chr10:55395380-55446058
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	chr10:55405153..55407581-chr5:63345532..63348450,2	MCF-7	breast:

Extended variants
information (count: 1210 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1210 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151180054	chr10:55397069-55397070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574646184	chr10:55397070-55397071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540469590	chr10:55397089-55397090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188222759	chr10:55397106-55397107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367591017	chr10:55397148-55397149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545812088	chr10:55397166-55397167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562439310	chr10:55397168-55397169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576216936	chr10:55397205-55397206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541903349	chr10:55397218-55397219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111731506	chr10:55397222-55397223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546239942	chr10:55397231-55397232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527528666	chr10:55397249-55397250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547262332	chr10:55397255-55397256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150245814	chr10:55397256-55397257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191889953	chr10:55397274-55397275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552559684	chr10:55397281-55397282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184450092	chr10:55397360-55397361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188948737	chr10:55397401-55397402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548044625	chr10:55397405-55397406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373356083	chr10:55397409-55397410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1844445	chr10:55397423-55397424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376486005	chr10:55397488-55397489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568207007	chr10:55397526-55397527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115384015	chr10:55397545-55397546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1844446	chr10:55397556-55397557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539710852	chr10:55397566-55397567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140724625	chr10:55397568-55397569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145912755	chr10:55397569-55397570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541841785	chr10:55397578-55397579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368197879	chr10:55397612-55397613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572026271	chr10:55397613-55397614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541245051	chr10:55397639-55397640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11003723	chr10:55397650-55397651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs202036046	chr10:55397763-55397764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35957518	chr10:55397765-55397766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367725538	chr10:55397784-55397785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376022348	chr10:55397854-55397855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138464769	chr10:55397893-55397894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568241861	chr10:55397929-55397930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534007894	chr10:55397948-55397949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76073935	chr10:55397952-55397953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4935454	chr10:55397986-55397987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572041441	chr10:55398008-55398009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556941035	chr10:55398022-55398023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570352194	chr10:55398048-55398049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535472801	chr10:55398071-55398072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9416289	chr10:55398076-55398077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572125023	chr10:55398096-55398097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540731552	chr10:55398161-55398162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375730994	chr10:55398172-55398173	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55397000-55398400	Enhancers	Fetal Lung	lung
2	chr10:55397800-55398400	Enhancers	Primary hematopoietic stem cells	blood
3	chr10:55398400-55403200	Weak transcription	Fetal Lung	lung
4	chr10:55403200-55406200	Enhancers	Fetal Lung	lung
5	chr10:55405200-55407400	Enhancers	Fetal Stomach	stomach
6	chr10:55406200-55406600	Flanking Active TSS	Fetal Lung	lung
7	chr10:55406200-55406600	Enhancers	Stomach Smooth Muscle	stomach
8	chr10:55406400-55407200	Enhancers	Fetal Brain Male	brain
9	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
10	chr10:55407400-55408400	Weak transcription	Fetal Stomach	stomach
11	chr10:55408600-55408800	Enhancers	Fetal Stomach	stomach
12	chr10:55417600-55418400	Enhancers	Fetal Heart	heart
13	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
14	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
21	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
27	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
30	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
31	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung
34	chr10:55424200-55424800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr10:55424200-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:55424200-55425000	Enhancers	Fetal Heart	heart
37	chr10:55424200-55425000	Enhancers	Fetal Intestine Small	intestine
38	chr10:55424200-55425000	Enhancers	Fetal Stomach	stomach
39	chr10:55424400-55424600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:55424400-55424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:55424400-55424800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr10:55424400-55424800	Enhancers	Liver	Liver
43	chr10:55424400-55424800	Enhancers	Brain Anterior Caudate	brain
44	chr10:55424400-55424800	Enhancers	Colonic Mucosa	Colon
45	chr10:55424400-55424800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr10:55424400-55424800	Enhancers	Ovary	ovary
47	chr10:55424400-55424800	Enhancers	Right Ventricle	heart
48	chr10:55424400-55425000	Enhancers	Fetal Muscle Leg	muscle
49	chr10:55424600-55424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:55424600-55424800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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