Variant report

Variant	nsv895411
Chromosome Location	chr10:55390656-55417666
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	chr10:55405153..55407581-chr5:63345532..63348450,2	MCF-7	breast:

Extended variants
information (count: 692 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:692 , 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	rs16937609	chr10:55390656-55390657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186461001	chr10:55390674-55390675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146290373	chr10:55390686-55390687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190110877	chr10:55390698-55390699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558698653	chr10:55390742-55390743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73239514	chr10:55390746-55390747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569087025	chr10:55390749-55390750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181631357	chr10:55390774-55390775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186289698	chr10:55390781-55390782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375930155	chr10:55390791-55390792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34318395	chr10:55390864-55390865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139623213	chr10:55390877-55390878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10825078	chr10:55390910-55390911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536708275	chr10:55390986-55390987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60730728	chr10:55390997-55390998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570697660	chr10:55391008-55391009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191209885	chr10:55391019-55391020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375313695	chr10:55391024-55391025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368112432	chr10:55391028-55391029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144217176	chr10:55391046-55391047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138195295	chr10:55391047-55391048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577489073	chr10:55391049-55391050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546440885	chr10:55391053-55391054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112916059	chr10:55391071-55391072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57360655	chr10:55391074-55391075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562352889	chr10:55391113-55391114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144261948	chr10:55391114-55391115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182262411	chr10:55391115-55391116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374526057	chr10:55391116-55391117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541456415	chr10:55391150-55391151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12777703	chr10:55391165-55391166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185445589	chr10:55391167-55391168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191083360	chr10:55391178-55391179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183149215	chr10:55391186-55391187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571277357	chr10:55391194-55391195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533087121	chr10:55391230-55391231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72793106	chr10:55391265-55391266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569849829	chr10:55391269-55391270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12776465	chr10:55391326-55391327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs73239516	chr10:55391344-55391345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188035076	chr10:55391401-55391402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534001942	chr10:55391402-55391403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193026205	chr10:55391410-55391411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369440512	chr10:55391417-55391418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12778875	chr10:55391418-55391419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs546181207	chr10:55391427-55391428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368056533	chr10:55391560-55391561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371487028	chr10:55391579-55391580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7906396	chr10:55391609-55391610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs541878702	chr10:55391618-55391619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	17363583	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55390600-55394000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:55394000-55394400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:55394200-55394400	Enhancers	Fetal Kidney	kidney
4	chr10:55394200-55395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:55394400-55395200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:55395000-55395200	Enhancers	Fetal Kidney	kidney
7	chr10:55397000-55398400	Enhancers	Fetal Lung	lung
8	chr10:55397800-55398400	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:55398400-55403200	Weak transcription	Fetal Lung	lung
10	chr10:55403200-55406200	Enhancers	Fetal Lung	lung
11	chr10:55405200-55407400	Enhancers	Fetal Stomach	stomach
12	chr10:55406200-55406600	Flanking Active TSS	Fetal Lung	lung
13	chr10:55406200-55406600	Enhancers	Stomach Smooth Muscle	stomach
14	chr10:55406400-55407200	Enhancers	Fetal Brain Male	brain
15	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
16	chr10:55407400-55408400	Weak transcription	Fetal Stomach	stomach
17	chr10:55408600-55408800	Enhancers	Fetal Stomach	stomach
18	chr10:55417600-55418400	Enhancers	Fetal Heart	heart

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