Variant report

Variant	nsv551054
Chromosome Location	chr10:57570418-57605472
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	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:

Extended variants
information (count: 490 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562853941	chr10:57571607-57571608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541735998	chr10:57571608-57571609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187515466	chr10:57571650-57571651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531784361	chr10:57571701-57571702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548413317	chr10:57571713-57571714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568199438	chr10:57571728-57571729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527813023	chr10:57571787-57571788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547595501	chr10:57571788-57571789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570787597	chr10:57571801-57571802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143552036	chr10:57571818-57571819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556448673	chr10:57571830-57571831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147135583	chr10:57571832-57571833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10763264	chr10:57571869-57571870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531897421	chr10:57571936-57571937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375151301	chr10:57571954-57571955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190912493	chr10:57572914-57572915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs536632441	chr10:57572968-57572969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556566857	chr10:57572979-57572980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573323448	chr10:57572980-57572981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs542081853	chr10:57573001-57573002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529622314	chr10:57573021-57573022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10825627	chr10:57573029-57573030	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572551607	chr10:57573053-57573054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541307555	chr10:57573058-57573059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77825735	chr10:57573062-57573063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575182262	chr10:57573066-57573067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544089733	chr10:57573128-57573129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150692957	chr10:57573132-57573133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563971899	chr10:57573159-57573160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78459290	chr10:57573188-57573189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549219345	chr10:57573203-57573204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565840992	chr10:57573206-57573207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180849284	chr10:57573209-57573210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551320812	chr10:57573221-57573222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571298825	chr10:57573229-57573230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185890311	chr10:57573260-57573261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556651440	chr10:57573288-57573289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573257821	chr10:57573311-57573312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535845450	chr10:57573335-57573336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556021415	chr10:57573408-57573409	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73262594	chr10:57573437-57573438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370505527	chr10:57573499-57573500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201044655	chr10:57573500-57573501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs537726391	chr10:57573504-57573505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564554947	chr10:57573518-57573519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs114765796	chr10:57573554-57573555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190060348	chr10:57573574-57573575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570177790	chr10:57573575-57573576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10763265	chr10:57573592-57573593	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555966920	chr10:57573599-57573600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Autism	20858243	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57571600-57572000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:57572800-57574400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:57573000-57573400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:57573000-57574400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:57573000-57576600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:57574200-57574400	ZNF genes & repeats	Pancreas	Pancrea
7	chr10:57574400-57576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:57574400-57582200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:57575200-57576400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:57576400-57577800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr10:57576800-57577400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:57576800-57577800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr10:57577400-57582200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:57577800-57579200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:57577800-57581400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:57578800-57579000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:57578800-57579200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:57578800-57580000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:57578800-57580200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:57579000-57579600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:57579200-57580000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr10:57579200-57582000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:57579200-57582200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:57579200-57582600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr10:57579400-57579600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr10:57579600-57580200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr10:57579600-57580400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:57580000-57580400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr10:57580000-57580600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr10:57580200-57580400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr10:57580200-57580600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr10:57580400-57580600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr10:57580400-57582200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:57580400-57582400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr10:57580600-57581000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr10:57580600-57581400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:57580600-57582600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr10:57581000-57581800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr10:57581200-57581400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:57581200-57581800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:57581400-57581600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr10:57581400-57581800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:57581400-57582600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr10:57581600-57582000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr10:57581800-57582200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:57581800-57582200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:57582000-57582400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr10:57582000-57582600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr10:57582200-57582400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:57582200-57582600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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