Variant report

Variant	nsv550874
Chromosome Location	chr10:53816171-53841105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1010 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1010 , 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	rs1903997	chr10:53816171-53816172	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184528830	chr10:53816192-53816193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189427518	chr10:53816204-53816205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544671978	chr10:53816250-53816251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564638923	chr10:53816252-53816253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530564128	chr10:53816253-53816254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540852242	chr10:53816263-53816264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192178035	chr10:53816311-53816312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184730767	chr10:53816312-53816313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35174895	chr10:53816353-53816354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10762550	chr10:53816380-53816381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563231996	chr10:53816448-53816449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189227879	chr10:53816461-53816462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181592143	chr10:53816493-53816494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372681983	chr10:53816530-53816531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185806807	chr10:53816565-53816566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189710001	chr10:53816584-53816585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181265760	chr10:53816642-53816643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139199217	chr10:53816659-53816660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564023329	chr10:53816662-53816663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571925619	chr10:53816681-53816682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560781289	chr10:53816723-53816724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7086973	chr10:53816737-53816738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550956728	chr10:53816823-53816824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142579411	chr10:53816827-53816828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577644248	chr10:53816829-53816830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532980557	chr10:53816838-53816839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536237199	chr10:53816854-53816855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553084627	chr10:53816877-53816878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552870834	chr10:53816916-53816917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566397884	chr10:53816933-53816934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151296919	chr10:53816955-53816956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534838347	chr10:53816982-53816983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557633074	chr10:53816994-53816995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371414941	chr10:53817044-53817045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140535326	chr10:53817067-53817068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543302981	chr10:53817090-53817091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150456038	chr10:53817091-53817092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573717474	chr10:53817186-53817187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147734118	chr10:53817238-53817239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74911174	chr10:53817290-53817291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528143292	chr10:53817311-53817312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75323902	chr10:53817340-53817341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565290289	chr10:53817345-53817346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531132686	chr10:53817353-53817354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142664312	chr10:53817355-53817356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374814512	chr10:53817376-53817377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186185886	chr10:53817407-53817408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191041431	chr10:53817408-53817409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546560181	chr10:53817443-53817444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Chronic lymphocytic leukemia	21546498	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
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53803800-53822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:53804000-53822800	Weak transcription	Aorta	Aorta
3	chr10:53805800-53816800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:53805800-53824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:53806600-53816200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:53814400-53842800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:53815000-53827000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:53816000-53816200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:53816000-53817200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:53816200-53816600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:53816200-53817400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr10:53816600-53817400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:53816600-53817400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:53816800-53817400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:53816800-53817400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr10:53816800-53817400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr10:53816800-53817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:53817200-53820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:53817400-53820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:53817400-53820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:53817400-53820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:53817400-53822800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:53817400-53822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:53817400-53830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:53819400-53824000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:53820600-53821000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:53820600-53821000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:53820600-53821200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:53820800-53821200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:53820800-53821200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:53821000-53822800	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:53821000-53825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:53821000-53828600	Weak transcription	Lung	lung
34	chr10:53821200-53823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:53821200-53824000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:53821200-53826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:53821200-53826000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:53821400-53823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:53821400-53823000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:53821600-53822800	Weak transcription	Fetal Stomach	stomach
41	chr10:53822600-53825000	Weak transcription	Colonic Mucosa	Colon
42	chr10:53822800-53823000	ZNF genes & repeats	Aorta	Aorta
43	chr10:53822800-53823000	ZNF genes & repeats	Esophagus	oesophagus
44	chr10:53822800-53823600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr10:53822800-53823600	ZNF genes & repeats	Fetal Stomach	stomach
46	chr10:53822800-53824000	Strong transcription	Fetal Muscle Leg	muscle
47	chr10:53822800-53824200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:53822800-53824200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:53823000-53823200	Strong transcription	Aorta	Aorta
50	chr10:53823000-53824000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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