Variant report

Variant	nsv1048014
Chromosome Location	chr10:56053413-56104109
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	chr10:56063971..56064546-chr4:85391561..85392244,2	MCF-7	breast:

Extended variants
information (count: 705 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556691297	chr10:56058813-56058814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553894573	chr10:56058838-56058839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6481084	chr10:56058875-56058876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545461170	chr10:56058892-56058893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565280151	chr10:56058906-56058907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377393583	chr10:56058911-56058912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200702509	chr10:56058922-56058923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113605550	chr10:56058955-56058956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573647171	chr10:56058968-56058969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546000817	chr10:56058969-56058970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544575310	chr10:56058996-56058997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561269265	chr10:56059013-56059014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375484584	chr10:56059028-56059029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561765105	chr10:56059041-56059042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547012788	chr10:56059098-56059099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186789205	chr10:56059102-56059103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549865446	chr10:56059114-56059115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368995174	chr10:56059116-56059117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369197623	chr10:56059120-56059121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553685233	chr10:56059146-56059147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552241612	chr10:56059152-56059153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568573827	chr10:56059224-56059225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377467704	chr10:56059270-56059271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527958973	chr10:56059317-56059318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150936743	chr10:56059325-56059326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567735506	chr10:56059363-56059364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373884988	chr10:56059398-56059399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564129811	chr10:56059439-56059440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191592494	chr10:56059529-56059530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564833036	chr10:56059535-56059536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183837701	chr10:56059543-56059544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549976161	chr10:56059555-56059556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113405222	chr10:56059558-56059559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139443614	chr10:56059559-56059560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575760522	chr10:56059579-56059580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544740526	chr10:56059580-56059581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561232140	chr10:56059604-56059605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574914554	chr10:56059646-56059647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540918922	chr10:56059647-56059648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192956063	chr10:56059709-56059710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185038332	chr10:56059727-56059728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373418418	chr10:56059732-56059733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190378742	chr10:56059747-56059748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182086943	chr10:56059758-56059759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532004262	chr10:56059775-56059776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7898758	chr10:56059799-56059800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567693008	chr10:56059817-56059818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186423541	chr10:56059822-56059823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547658196	chr10:56059842-56059843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570612873	chr10:56059852-56059853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Developmental delay	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56058800-56066400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:56063400-56063800	Enhancers	Fetal Lung	lung
3	chr10:56066400-56066600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr10:56067200-56067800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:56096000-56097800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:56097600-56098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:56097800-56098400	Active TSS	Primary hematopoietic stem cells	blood
8	chr10:56097800-56099000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr10:56097800-56099000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:56098200-56098600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:56098200-56098600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:56098200-56098800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:56098200-56099000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:56098400-56098600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr10:56098400-56099000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:56098600-56099000	Enhancers	Primary hematopoietic stem cells	blood
17	chr10:56098600-56099000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:56098600-56101000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:56101000-56102800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr10:56101400-56102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:56101400-56102800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr10:56102000-56102200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:56102000-56102600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:56102000-56102600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:56102000-56102800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr10:56102000-56103200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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