Variant report

Variant	nsv982896
Chromosome Location	chr10:55082458-55090462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 324 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543384504	chr10:55082576-55082577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548215723	chr10:55082585-55082586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182349130	chr10:55082623-55082624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187395616	chr10:55082631-55082632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371521694	chr10:55082642-55082643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570586807	chr10:55082695-55082696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561858704	chr10:55082716-55082717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569770189	chr10:55082719-55082720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527826470	chr10:55082739-55082740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547968777	chr10:55082762-55082763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568052290	chr10:55082768-55082769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570986876	chr10:55082778-55082779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78168784	chr10:55082788-55082789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550511061	chr10:55082798-55082799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569642768	chr10:55082831-55082832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535452235	chr10:55082843-55082844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141632186	chr10:55082849-55082850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150077587	chr10:55082901-55082902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189653085	chr10:55082929-55082930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539479115	chr10:55082965-55082966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557916038	chr10:55082989-55082990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577775055	chr10:55082990-55082991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75458803	chr10:55083011-55083012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556837743	chr10:55083048-55083049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575990011	chr10:55083090-55083091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541814421	chr10:55083099-55083100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561794538	chr10:55083118-55083119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562050199	chr10:55083160-55083161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182356783	chr10:55083161-55083162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541202126	chr10:55083180-55083181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185605411	chr10:55083256-55083257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190166084	chr10:55083258-55083259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550450696	chr10:55083270-55083271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563962029	chr10:55083272-55083273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527664960	chr10:55083310-55083311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182805254	chr10:55083331-55083332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200478465	chr10:55083356-55083357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188625283	chr10:55083357-55083358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565573272	chr10:55083395-55083396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12217268	chr10:55083412-55083413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138377771	chr10:55083453-55083454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192998279	chr10:55083472-55083473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116209726	chr10:55083481-55083482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536861065	chr10:55083487-55083488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556780555	chr10:55083543-55083544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150557471	chr10:55083662-55083663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200401354	chr10:55083664-55083665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573597646	chr10:55083666-55083667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11003574	chr10:55083677-55083678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11003575	chr10:55083710-55083711	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55073400-55084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:55077600-55094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:55084000-55084400	Enhancers	Adipose Nuclei	Adipose
4	chr10:55084600-55085000	Enhancers	NHEK	skin
5	chr10:55084800-55085000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:55084800-55085200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:55084800-55085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:55084800-55085200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:55084800-55085200	Enhancers	NH-A	brain
10	chr10:55084800-55085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:55084800-55085600	Enhancers	HMEC	breast
12	chr10:55085000-55092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:55086000-55086200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:55086000-55086800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:55086000-55087000	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:55086200-55087000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:55086800-55087200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:55088600-55095400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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