Variant report

Variant	nsv550930
Chromosome Location	chr10:55365419-55395380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1043 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7904493	chr10:55365419-55365420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527414314	chr10:55365457-55365458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555980228	chr10:55365505-55365506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193022240	chr10:55365520-55365521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535204880	chr10:55365605-55365606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59556125	chr10:55365640-55365641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185359208	chr10:55365715-55365716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77814739	chr10:55365724-55365725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75398245	chr10:55365734-55365735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150514722	chr10:55365789-55365790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2046803	chr10:55365805-55365806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10825072	chr10:55365816-55365817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79519986	chr10:55365843-55365844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544367394	chr10:55365929-55365930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531790170	chr10:55365931-55365932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548408955	chr10:55366042-55366043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561924252	chr10:55366069-55366070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527913102	chr10:55366078-55366079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368503659	chr10:55366093-55366094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547120641	chr10:55366097-55366098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557887783	chr10:55366098-55366099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539745755	chr10:55366121-55366122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7083485	chr10:55366160-55366161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190605546	chr10:55366176-55366177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535509359	chr10:55366183-55366184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555532461	chr10:55366240-55366241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114795437	chr10:55366243-55366244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372678443	chr10:55366261-55366262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182253666	chr10:55366263-55366264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372544912	chr10:55366267-55366268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558082316	chr10:55366289-55366290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371246448	chr10:55366293-55366294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577822585	chr10:55366304-55366305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567010028	chr10:55366306-55366307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139443397	chr10:55366324-55366325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543362020	chr10:55366325-55366326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562867119	chr10:55366339-55366340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5785007	chr10:55366345-55366346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535887061	chr10:55366354-55366355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11003703	chr10:55366362-55366363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183560798	chr10:55366463-55366464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1489840	chr10:55366464-55366465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1489841	chr10:55366471-55366472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146702776	chr10:55366501-55366502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199890066	chr10:55366509-55366510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370674916	chr10:55366511-55366512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561992371	chr10:55366514-55366515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75271851	chr10:55366578-55366579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531012923	chr10:55366595-55366596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550226836	chr10:55366641-55366642	Weak transcription 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	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55359600-55366800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr10:55360800-55367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr10:55361200-55365800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:55361400-55367000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:55362200-55371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:55365400-55366000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:55365400-55366000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:55365400-55366000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr10:55365400-55366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:55365600-55366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:55365600-55367200	Weak transcription	Fetal Lung	lung
12	chr10:55365800-55366200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:55366000-55371200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:55366200-55366400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:55366400-55368200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr10:55366600-55368200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr10:55366800-55367000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr10:55366800-55368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:55367000-55367400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:55367000-55368000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr10:55367200-55368600	Enhancers	Fetal Lung	lung
22	chr10:55367400-55367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:55367400-55367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr10:55367800-55376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr10:55368000-55373200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:55368000-55379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:55368200-55373200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:55371200-55371800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr10:55371400-55371600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:55371400-55371600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:55371600-55381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:55373200-55373600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:55373200-55374000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr10:55375400-55375600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:55379000-55379400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr10:55379200-55379800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:55379200-55380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:55379400-55379800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr10:55379400-55379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:55379400-55379800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:55379400-55379800	Enhancers	NHEK	skin
42	chr10:55379400-55380400	Enhancers	HMEC	breast
43	chr10:55379800-55381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:55379800-55387600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr10:55390400-55390600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr10:55390600-55394000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:55394000-55394400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:55394200-55394400	Enhancers	Fetal Kidney	kidney
49	chr10:55394200-55395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:55394400-55395200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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