Variant report

Variant	nsv552173
Chromosome Location	chr10:112909105-112941780
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	chr10:112903232..112905667-chr10:112909742..112912400,3	K562	blood:
2	chr10:112904098..112905667-chr10:112909742..112912400,2	K562	blood:

Extended variants
information (count: 663 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs869244	chr10:112909105-112909106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs373641341	chr10:112909122-112909123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191701371	chr10:112909218-112909219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117545173	chr10:112909229-112909230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184487193	chr10:112909252-112909253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200641140	chr10:112909270-112909271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528523177	chr10:112909323-112909324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189420460	chr10:112909344-112909345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148028752	chr10:112909357-112909358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547411548	chr10:112909372-112909373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370647347	chr10:112909450-112909451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143599969	chr10:112909454-112909455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373957340	chr10:112909476-112909477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550855140	chr10:112909482-112909483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193150152	chr10:112909486-112909487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530496204	chr10:112909517-112909518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551883886	chr10:112909535-112909536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111756792	chr10:112909541-112909542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11195438	chr10:112909569-112909570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552842679	chr10:112909589-112909590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185503078	chr10:112909634-112909635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75539014	chr10:112909654-112909655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188980777	chr10:112909662-112909663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117541182	chr10:112909666-112909667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546296774	chr10:112909683-112909684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558317578	chr10:112909733-112909734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56360312	chr10:112909738-112909739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181428154	chr10:112909765-112909766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185567699	chr10:112909767-112909768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562123550	chr10:112909768-112909769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529527767	chr10:112909772-112909773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188665059	chr10:112909852-112909853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537241774	chr10:112909855-112909856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76458059	chr10:112909863-112909864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570473485	chr10:112909864-112909865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143117278	chr10:112909881-112909882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377329383	chr10:112909900-112909901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150824579	chr10:112909914-112909915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549831205	chr10:112909928-112909929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115982447	chr10:112909941-112909942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139270518	chr10:112909955-112909956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10885100	chr10:112910008-112910009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568061780	chr10:112910092-112910093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535357731	chr10:112910108-112910109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557249924	chr10:112910122-112910123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568942651	chr10:112910124-112910125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539684979	chr10:112910139-112910140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557987803	chr10:112910176-112910177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573334757	chr10:112910177-112910178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150055216	chr10:112910181-112910182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112907800-112909400	Enhancers	Fetal Muscle Leg	muscle
2	chr10:112907800-112910800	Enhancers	Placenta	Placenta
3	chr10:112908000-112909400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:112908200-112911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:112908400-112911400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:112909000-112909400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:112909400-112909600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:112909400-112911600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:112909600-112911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:112911400-112912600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:112911600-112911800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:112911600-112912000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:112911600-112912000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:112911600-112912200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:112911600-112912400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:112911800-112912000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:112911800-112912200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr10:112912000-112912400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:112912400-112918000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:112914800-112915200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:112914800-112917200	Enhancers	Adipose Nuclei	Adipose
22	chr10:112915600-112916800	Enhancers	Duodenum Mucosa	Duodenum
23	chr10:112916400-112916800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr10:112916800-112919000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:112917200-112918600	Weak transcription	Adipose Nuclei	Adipose
26	chr10:112918000-112919000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:112918000-112919200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr10:112918200-112919000	Enhancers	NHDF-Ad	bronchial
29	chr10:112918600-112919000	Enhancers	Adipose Nuclei	Adipose
30	chr10:112921000-112921600	Enhancers	Fetal Muscle Leg	muscle
31	chr10:112921200-112922000	Enhancers	Colonic Mucosa	Colon
32	chr10:112921200-112922000	Enhancers	Spleen	Spleen
33	chr10:112921400-112922200	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:112921800-112922200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr10:112934400-112935800	Enhancers	Fetal Muscle Leg	muscle
36	chr10:112935000-112935800	Enhancers	K562	blood
37	chr10:112935200-112936200	Enhancers	HSMMtube	muscle
38	chr10:112935400-112935600	Enhancers	HSMM	muscle
39	chr10:112935400-112935800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:112935400-112935800	Enhancers	Psoas Muscle	Psoas
41	chr10:112935400-112936000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:112936200-112936400	Enhancers	HSMM	muscle
43	chr10:112940400-112943600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:112941200-112942000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:112941200-112944400	Enhancers	Ovary	ovary

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