Variant report

Variant	nsv971848
Chromosome Location	chr10:44919928-44923611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548869973	chr10:44919929-44919930	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs80176780	chr10:44919945-44919946	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs548982779	chr10:44919949-44919950	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs568671209	chr10:44919957-44919958	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs1147927	chr10:44919959-44919960	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528165237	chr10:44920006-44920007	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs35277714	chr10:44920105-44920106	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs547217999	chr10:44920129-44920130	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs146223657	chr10:44920130-44920131	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs564196188	chr10:44920143-44920144	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs570886674	chr10:44920203-44920204	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs139060494	chr10:44920228-44920229	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs545705119	chr10:44920250-44920251	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs551286602	chr10:44920258-44920259	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569435770	chr10:44920267-44920268	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs370824819	chr10:44920465-44920466	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs536264801	chr10:44920489-44920490	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs554517152	chr10:44920496-44920497	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs915084	chr10:44920503-44920504	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533991766	chr10:44920506-44920507	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs142376740	chr10:44920555-44920556	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372423311	chr10:44920563-44920564	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs544853033	chr10:44920564-44920565	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs543082308	chr10:44920573-44920574	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs575575283	chr10:44920582-44920583	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs542665480	chr10:44920595-44920596	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs4948626	chr10:44920605-44920606	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528203769	chr10:44920641-44920642	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs1147928	chr10:44920667-44920668	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116713134	chr10:44920698-44920699	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs532776674	chr10:44920722-44920723	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs550863086	chr10:44920795-44920796	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs117795309	chr10:44920860-44920861	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79280024	chr10:44920896-44920897	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530285773	chr10:44920930-44920931	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74375189	chr10:44920935-44920936	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566565535	chr10:44920939-44920940	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112187263	chr10:44920942-44920943	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559035661	chr10:44920945-44920946	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183159621	chr10:44920959-44920960	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs750011	chr10:44921014-44921015	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11239041	chr10:44921018-44921019	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs556849325	chr10:44921034-44921035	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs544504802	chr10:44921075-44921076	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs148693950	chr10:44921114-44921115	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs552782846	chr10:44921127-44921128	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs142242004	chr10:44921131-44921132	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs538523225	chr10:44921144-44921145	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs554900108	chr10:44921192-44921193	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs187448966	chr10:44921198-44921199	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44919000-44920000	Weak transcription	Fetal Lung	lung
2	chr10:44919000-44920000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:44919400-44920200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:44919800-44920000	Enhancers	Right Ventricle	heart
5	chr10:44919800-44920200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:44919800-44922800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr10:44920000-44922400	Enhancers	Fetal Muscle Leg	muscle
8	chr10:44920000-44922800	Enhancers	Fetal Lung	lung
9	chr10:44920800-44921000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr10:44920800-44921000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr10:44921800-44922000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:44921800-44922000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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