Variant report

Variant	nsv470951
Chromosome Location	chr10:58905847-58970006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58957814..58958334-chr4:116457976..116458496,2	MCF-7	breast:
2	chr10:58887742..58890502-chr10:58913371..58916213,2	MCF-7	breast:
3	chr10:58964683..58966262-chr10:58967768..58970622,2	K562	blood:
4	chr10:58964683..58966262-chr10:58967768..58970622,2	K562	blood:

Extended variants
information (count: 2366 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2366 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12269040	chr10:58905847-58905848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550794644	chr10:58905848-58905849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562671078	chr10:58905854-58905855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189435062	chr10:58905859-58905860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12254838	chr10:58905878-58905879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117549854	chr10:58905919-58905920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558450351	chr10:58905932-58905933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575165587	chr10:58905936-58905937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1120047	chr10:58905942-58905943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549092139	chr10:58905960-58905961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567787302	chr10:58905982-58905983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537948358	chr10:58905997-58905998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371243868	chr10:58906014-58906015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7906620	chr10:58906049-58906050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529848001	chr10:58906053-58906054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146693157	chr10:58906054-58906055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572385082	chr10:58906079-58906080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540259374	chr10:58906101-58906102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555060155	chr10:58906126-58906127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11005662	chr10:58906151-58906152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111749855	chr10:58906181-58906182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116500631	chr10:58906192-58906193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562527820	chr10:58906212-58906213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148734205	chr10:58906217-58906218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150328724	chr10:58906218-58906219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560474094	chr10:58906264-58906265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140690315	chr10:58906270-58906271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146386446	chr10:58906278-58906279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142016165	chr10:58906283-58906284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186669652	chr10:58906305-58906306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148125614	chr10:58906307-58906308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374575789	chr10:58906308-58906309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371800495	chr10:58906316-58906317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372060511	chr10:58906320-58906321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139641655	chr10:58906334-58906335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12761331	chr10:58906370-58906371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538878340	chr10:58906464-58906465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7907282	chr10:58906471-58906472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534302746	chr10:58906481-58906482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566074099	chr10:58906503-58906504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143983051	chr10:58906545-58906546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147308247	chr10:58906565-58906566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541299363	chr10:58906580-58906581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116845854	chr10:58906595-58906596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544162653	chr10:58906612-58906613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556316497	chr10:58906613-58906614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191971738	chr10:58906625-58906626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565495888	chr10:58906633-58906634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545263329	chr10:58906649-58906650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368748941	chr10:58906654-58906655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58903600-58906800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:58906800-58907200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:58907200-58907400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:58907400-58907800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:58921200-58921400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr10:58921200-58923200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr10:58921400-58923000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:58923000-58923200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr10:58923200-58924400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:58923400-58925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:58924400-58924600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr10:58924800-58926200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr10:58925000-58925600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:58925000-58925800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:58925000-58926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:58925200-58925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:58925400-58925600	ZNF genes & repeats	Lung	lung
18	chr10:58925400-58925800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:58925400-58926000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:58925600-58926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:58925800-58926600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr10:58926000-58926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:58926400-58927200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:58926600-58927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:58927200-58928200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:58927800-58928800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:58928200-58929000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:58930200-58959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:58932400-58932800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:58932800-58933000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:58933000-58947200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:58936400-58937200	Enhancers	Fetal Brain Female	brain
33	chr10:58945800-58946200	Enhancers	Fetal Kidney	kidney
34	chr10:58945800-58946400	Enhancers	Fetal Lung	lung
35	chr10:58947800-58949200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:58952400-58968400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:58959000-58960000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:58959200-58960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:58960200-58966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:58963600-58963800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr10:58963800-58970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr10:58966600-58967400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:58967400-58970600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:58968400-58969200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:58969200-58970800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:58970000-58973400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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