Variant report

Variant	nsv551061
Chromosome Location	chr10:58175630-58340191
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:58228483..58231037-chr10:58240976..58242980,2	MCF-7	breast:
2	chr10:58226384..58228084-chr10:58231233..58232927,2	K562	blood:
3	chr10:58228483..58231037-chr10:58240976..58242980,2	MCF-7	breast:
4	chr10:58279559..58282795-chr10:58291482..58294244,3	K562	blood:
5	chr10:58338696..58340505-chr10:58341566..58344213,2	K562	blood:
6	chr10:58279559..58281447-chr10:58292091..58294244,2	K562	blood:
7	chr10:58310627..58311484-chr10:58424524..58425160,3	MCF-7	breast:
8	chr10:58279559..58282795-chr10:58291482..58294244,3	K562	blood:
9	chr10:58225018..58228182-chr10:58230388..58232933,3	K562	blood:
10	chr10:58226384..58228084-chr10:58231233..58232927,2	K562	blood:
11	chr10:58225018..58228182-chr10:58230388..58232933,3	K562	blood:
12	chr10:58293053..58295597-chr10:58297273..58300708,4	K562	blood:
13	chr10:58293053..58295597-chr10:58297273..58300708,4	K562	blood:
14	chr10:58279559..58281447-chr10:58292091..58294244,2	K562	blood:

No data

Extended variants
information (count: 622 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534281798	chr10:58191836-58191837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147243100	chr10:58191855-58191856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574268564	chr10:58191882-58191883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538459975	chr10:58191921-58191922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17653747	chr10:58191990-58191991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116884558	chr10:58192062-58192063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545437188	chr10:58192064-58192065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111996791	chr10:58192092-58192093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189500146	chr10:58192127-58192128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113170929	chr10:58192146-58192147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561477972	chr10:58192171-58192172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116034083	chr10:58192186-58192187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535210752	chr10:58192261-58192262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553800839	chr10:58192309-58192310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550769965	chr10:58192317-58192318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562599480	chr10:58192335-58192336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181139678	chr10:58192373-58192374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55799219	chr10:58192384-58192385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566861179	chr10:58192389-58192390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527721282	chr10:58192426-58192427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549476029	chr10:58192444-58192445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73283693	chr10:58192470-58192471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76170395	chr10:58192473-58192474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556721668	chr10:58192494-58192495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539602496	chr10:58192499-58192500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200048375	chr10:58192516-58192517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571795520	chr10:58192552-58192553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539310545	chr10:58192566-58192567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372939602	chr10:58192585-58192586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572484693	chr10:58192596-58192597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147707722	chr10:58199602-58199603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538999127	chr10:58199606-58199607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557326218	chr10:58199608-58199609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192688249	chr10:58199659-58199660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559048744	chr10:58199664-58199665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533868031	chr10:58199688-58199689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555196683	chr10:58199796-58199797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573754074	chr10:58199818-58199819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552161588	chr10:58199888-58199889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544093538	chr10:58199992-58199993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544681340	chr10:58208633-58208634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs562977908	chr10:58208637-58208638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12264132	chr10:58208667-58208668	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551680826	chr10:58208670-58208671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12257459	chr10:58208672-58208673	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527966146	chr10:58208682-58208683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142685164	chr10:58208712-58208713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368828057	chr10:58208728-58208729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567690799	chr10:58208745-58208746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184009995	chr10:58208750-58208751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Obesity	21131291	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58191800-58192600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:58199600-58200000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr10:58208600-58208800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:58214000-58216600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:58216600-58217000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:58216600-58217200	ZNF genes & repeats	Aorta	Aorta
7	chr10:58216600-58225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:58225600-58226000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:58226000-58226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:58247400-58247800	Enhancers	Ovary	ovary
11	chr10:58295400-58295600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr10:58297200-58298600	Enhancers	HMEC	breast
13	chr10:58297400-58298600	Enhancers	NHEK	skin
14	chr10:58297600-58298000	Enhancers	A549	lung
15	chr10:58297600-58298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:58297600-58298200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr10:58297600-58298200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:58297600-58298200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:58297600-58298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:58297600-58298400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:58297600-58298400	Enhancers	NH-A	brain
22	chr10:58297600-58298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:58297600-58298600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:58297800-58298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr10:58297800-58298200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr10:58297800-58298400	Enhancers	Hela-S3	cervix
27	chr10:58297800-58298600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:58310800-58311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:58330000-58330200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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