Variant report

Variant	nsv1048286
Chromosome Location	chr10:112915770-113001105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112995616..112998299-chr10:113023569..113026059,2	K562	blood:
2	chr10:112946834..112949229-chr10:112955362..112957216,2	K562	blood:
3	chr10:112835831..112836588-chr10:112967176..112967740,2	MCF-7	breast:
4	chr10:112946834..112949229-chr10:112955362..112957216,2	K562	blood:
5	chr10:112835895..112836921-chr10:112966908..112967850,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150594	chromatin interactions

Extended variants
information (count: 1788 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1788 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117831115	chr10:112915786-112915787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539975801	chr10:112915800-112915801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537298502	chr10:112915815-112915816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs884741	chr10:112915817-112915818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576789906	chr10:112915818-112915819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544509790	chr10:112915850-112915851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552506565	chr10:112915980-112915981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184516163	chr10:112915991-112915992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115853559	chr10:112916022-112916023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557827648	chr10:112916055-112916056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566571649	chr10:112916063-112916064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187399172	chr10:112916223-112916224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549243191	chr10:112916224-112916225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148904828	chr10:112916303-112916304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537897621	chr10:112916305-112916306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559569689	chr10:112916311-112916312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555112475	chr10:112916336-112916337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556144128	chr10:112916355-112916356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114351612	chr10:112916382-112916383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538964623	chr10:112916404-112916405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs554315441	chr10:112916414-112916415	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs572580936	chr10:112916421-112916422	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs533872628	chr10:112916431-112916432	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs570800074	chr10:112916456-112916457	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs193038077	chr10:112916457-112916458	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs369662899	chr10:112916510-112916511	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs143525286	chr10:112916541-112916542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs377141820	chr10:112916580-112916581	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs544186239	chr10:112916584-112916585	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs148046205	chr10:112916585-112916586	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs577978537	chr10:112916604-112916605	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs7476076	chr10:112916610-112916611	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs545001231	chr10:112916648-112916649	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs560275794	chr10:112916680-112916681	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs527532228	chr10:112916713-112916714	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs143920973	chr10:112916740-112916741	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs184859299	chr10:112916741-112916742	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs398114762	chr10:112916745-112916746	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs542447994	chr10:112916837-112916838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189953499	chr10:112916869-112916870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181221049	chr10:112916923-112916924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183938493	chr10:112916927-112916928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188275293	chr10:112916952-112916953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183327620	chr10:112916961-112916962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140985306	chr10:112916975-112916976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566255411	chr10:112917024-112917025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373709344	chr10:112917075-112917076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531558686	chr10:112917103-112917104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181933384	chr10:112917116-112917117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186305324	chr10:112917128-112917129	Enhancers Weak transcription	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112912400-112918000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:112914800-112917200	Enhancers	Adipose Nuclei	Adipose
3	chr10:112915600-112916800	Enhancers	Duodenum Mucosa	Duodenum
4	chr10:112916400-112916800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
5	chr10:112916800-112919000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:112917200-112918600	Weak transcription	Adipose Nuclei	Adipose
7	chr10:112918000-112919000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:112918000-112919200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr10:112918200-112919000	Enhancers	NHDF-Ad	bronchial
10	chr10:112918600-112919000	Enhancers	Adipose Nuclei	Adipose
11	chr10:112921000-112921600	Enhancers	Fetal Muscle Leg	muscle
12	chr10:112921200-112922000	Enhancers	Colonic Mucosa	Colon
13	chr10:112921200-112922000	Enhancers	Spleen	Spleen
14	chr10:112921400-112922200	Enhancers	Duodenum Mucosa	Duodenum
15	chr10:112921800-112922200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr10:112934400-112935800	Enhancers	Fetal Muscle Leg	muscle
17	chr10:112935000-112935800	Enhancers	K562	blood
18	chr10:112935200-112936200	Enhancers	HSMMtube	muscle
19	chr10:112935400-112935600	Enhancers	HSMM	muscle
20	chr10:112935400-112935800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:112935400-112935800	Enhancers	Psoas Muscle	Psoas
22	chr10:112935400-112936000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:112936200-112936400	Enhancers	HSMM	muscle
24	chr10:112940400-112943600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:112941200-112942000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:112941200-112944400	Enhancers	Ovary	ovary
27	chr10:112942000-112943000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:112942000-112943600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:112942000-112946000	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:112942800-112943200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:112943000-112943200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:112943200-112943400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:112943200-112945800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:112943200-112946200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:112943600-112946200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:112943600-112947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:112946000-112946600	Enhancers	Fetal Brain Female	brain
38	chr10:112946000-112947400	Enhancers	Fetal Muscle Leg	muscle
39	chr10:112946200-112946400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:112946200-112946600	Enhancers	Psoas Muscle	Psoas
41	chr10:112946200-112946600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr10:112946200-112946800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr10:112946200-112946800	Enhancers	NHDF-Ad	bronchial
44	chr10:112946200-112947400	Enhancers	Adipose Nuclei	Adipose
45	chr10:112946200-112947600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:112946800-112947200	Weak transcription	NHDF-Ad	bronchial
47	chr10:112946800-112947400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:112947200-112947400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:112947200-112947600	Enhancers	HSMMtube	muscle
50	chr10:112947400-112947600	Enhancers	Skeletal Muscle Female	skeletal muscle

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