Variant report

Variant	nsv6698
Chromosome Location	chr10:56030123-56074572
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: 437 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547735360	chr10:56041605-56041606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148888732	chr10:56041608-56041609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531999647	chr10:56041616-56041617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146980825	chr10:56041618-56041619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7918002	chr10:56041626-56041627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549887867	chr10:56041646-56041647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138225533	chr10:56041684-56041685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569907589	chr10:56041685-56041686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535643832	chr10:56041737-56041738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555046804	chr10:56041782-56041783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181959555	chr10:56041798-56041799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565924387	chr10:56041836-56041837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562434286	chr10:56041862-56041863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112933364	chr10:56041881-56041882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115174705	chr10:56041896-56041897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61853312	chr10:56041906-56041907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372190470	chr10:56041939-56041940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577897529	chr10:56041951-56041952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543627375	chr10:56041982-56041983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529642451	chr10:56041986-56041987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547822717	chr10:56042026-56042027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185823469	chr10:56042051-56042052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7907468	chr10:56042069-56042070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76576828	chr10:56042111-56042112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189602075	chr10:56042128-56042129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12262364	chr10:56042135-56042136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs527679465	chr10:56042202-56042203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547795507	chr10:56042205-56042206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35804115	chr10:56042236-56042237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574462397	chr10:56042247-56042248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181203449	chr10:56042278-56042279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564606939	chr10:56042325-56042326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527393504	chr10:56042367-56042368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186758460	chr10:56042388-56042389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188090431	chr10:56043604-56043605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374228100	chr10:56043611-56043612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376739976	chr10:56043615-56043616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370895250	chr10:56043619-56043620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10825296	chr10:56043660-56043661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541378075	chr10:56043685-56043686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143837572	chr10:56043700-56043701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528682277	chr10:56043733-56043734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551417447	chr10:56043745-56043746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532372519	chr10:56043759-56043760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571408891	chr10:56043762-56043763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530519941	chr10:56043769-56043770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11593951	chr10:56043784-56043785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567283906	chr10:56043810-56043811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536521121	chr10:56043826-56043827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546579290	chr10:56043840-56043841	Enhancers	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
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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56041600-56042200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:56041600-56042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:56041600-56042200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:56041800-56042200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr10:56041800-56042400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:56043600-56044000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:56048600-56048800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:56058800-56066400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:56063400-56063800	Enhancers	Fetal Lung	lung
10	chr10:56066400-56066600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:56067200-56067800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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