Variant report

Variant	nsv825400
Chromosome Location	chr10:58271130-58342704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:58310627..58311484-chr10:58424524..58425160,3	MCF-7	breast:
2	chr10:58338696..58340505-chr10:58341566..58344213,2	K562	blood:
3	chr10:58279559..58282795-chr10:58291482..58294244,3	K562	blood:
4	chr10:58338696..58340505-chr10:58341566..58344213,2	K562	blood:
5	chr10:58279559..58281447-chr10:58292091..58294244,2	K562	blood:
6	chr10:58279559..58281447-chr10:58292091..58294244,2	K562	blood:
7	chr10:58293053..58295597-chr10:58297273..58300708,4	K562	blood:
8	chr10:58293053..58295597-chr10:58297273..58300708,4	K562	blood:
9	chr10:58279559..58282795-chr10:58291482..58294244,3	K562	blood:

No data

Extended variants
information (count: 123 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560588517	chr10:58295441-58295442	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs191781335	chr10:58295447-58295448	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182223945	chr10:58295477-58295478	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs201905841	chr10:58295480-58295481	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187372317	chr10:58295488-58295489	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs9943302	chr10:58295510-58295511	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs56934435	chr10:58297209-58297210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs57835860	chr10:58297241-58297242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35180428	chr10:58297294-58297295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192323583	chr10:58297310-58297311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78627687	chr10:58297318-58297319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577029452	chr10:58297332-58297333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79666754	chr10:58297341-58297342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559816110	chr10:58297364-58297365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7919770	chr10:58297379-58297380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138644114	chr10:58297389-58297390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140411437	chr10:58297390-58297391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531547152	chr10:58297391-58297392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183695782	chr10:58297393-58297394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549912392	chr10:58297399-58297400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16908959	chr10:58297400-58297401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145399195	chr10:58297440-58297441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138047720	chr10:58297448-58297449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142419254	chr10:58297535-58297536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531262622	chr10:58297577-58297578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530032369	chr10:58297599-58297600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548290904	chr10:58297634-58297635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143943621	chr10:58297654-58297655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188017696	chr10:58297656-58297657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61855101	chr10:58297663-58297664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570681344	chr10:58297680-58297681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73275470	chr10:58297709-58297710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148227324	chr10:58297722-58297723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553564216	chr10:58297732-58297733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77971566	chr10:58297737-58297738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72802984	chr10:58297755-58297756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554595824	chr10:58297763-58297764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576111371	chr10:58297941-58297942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192775251	chr10:58297949-58297950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564989964	chr10:58297968-58297969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532281480	chr10:58297969-58297970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74137685	chr10:58298022-58298023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146189763	chr10:58298026-58298027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530249499	chr10:58298041-58298042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372983191	chr10:58298047-58298048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141148741	chr10:58298053-58298054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548477152	chr10:58298138-58298139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569664950	chr10:58298156-58298157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530832901	chr10:58298160-58298161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535487555	chr10:58298168-58298169	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58295400-58295600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
2	chr10:58297200-58298600	Enhancers	HMEC	breast
3	chr10:58297400-58298600	Enhancers	NHEK	skin
4	chr10:58297600-58298000	Enhancers	A549	lung
5	chr10:58297600-58298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:58297600-58298200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr10:58297600-58298200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:58297600-58298200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:58297600-58298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:58297600-58298400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:58297600-58298400	Enhancers	NH-A	brain
12	chr10:58297600-58298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:58297600-58298600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:58297800-58298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:58297800-58298200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr10:58297800-58298400	Enhancers	Hela-S3	cervix
17	chr10:58297800-58298600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:58310800-58311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:58330000-58330200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:58341800-58344000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:58341800-58344000	Enhancers	HMEC	breast
22	chr10:58341800-58344000	Enhancers	NHEK	skin
23	chr10:58341800-58344200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:58342000-58342200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:58342200-58343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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