Variant report

Variant	nsv514563
Chromosome Location	chr10:58902430-58935698
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	chr10:58887742..58890502-chr10:58913371..58916213,2	MCF-7	breast:

Extended variants
information (count: 864 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10566729	chr10:58902493-58902494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199941280	chr10:58902496-58902497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139474761	chr10:58902503-58902504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71998305	chr10:58902505-58902506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs398013592	chr10:58902513-58902514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57783847	chr10:58902514-58902515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146761725	chr10:58902515-58902516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192104191	chr10:58902528-58902529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151219529	chr10:58902545-58902546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200263484	chr10:58902548-58902549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140411607	chr10:58902631-58902632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550673094	chr10:58902656-58902657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558702468	chr10:58902680-58902681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185472439	chr10:58902685-58902686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114210638	chr10:58902695-58902696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563157268	chr10:58902802-58902803	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs118129852	chr10:58902818-58902819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs117003821	chr10:58902828-58902829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201424977	chr10:58902832-58902833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs67400560	chr10:58902834-58902835	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533918297	chr10:58902835-58902836	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs397709524	chr10:58902852-58902853	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78534872	chr10:58902854-58902855	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572135068	chr10:58902857-58902858	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377369987	chr10:58902873-58902874	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563657153	chr10:58902889-58902890	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529703080	chr10:58902895-58902896	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189526936	chr10:58902898-58902899	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543345727	chr10:58902938-58902939	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370654532	chr10:58902939-58902940	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs375166911	chr10:58902946-58902947	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552535329	chr10:58902955-58902956	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373969786	chr10:58902977-58902978	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564664450	chr10:58902980-58902981	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368842887	chr10:58902982-58902983	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144986327	chr10:58903005-58903006	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181527299	chr10:58903047-58903048	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149090158	chr10:58903061-58903062	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374984954	chr10:58903104-58903105	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375121015	chr10:58903110-58903111	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535893594	chr10:58903148-58903149	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185860280	chr10:58903211-58903212	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144637370	chr10:58903218-58903219	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188361243	chr10:58903243-58903244	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181810978	chr10:58903252-58903253	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576636440	chr10:58903273-58903274	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371198889	chr10:58903289-58903290	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534476079	chr10:58903290-58903291	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372112550	chr10:58903301-58903302	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs373378632	chr10:58903324-58903325	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58902000-58902800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:58902000-58903600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:58902400-58903400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:58902600-58903400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr10:58902800-58903200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:58903200-58903400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr10:58903200-58903400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:58903600-58906800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:58906800-58907200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:58907200-58907400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:58907400-58907800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:58921200-58921400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr10:58921200-58923200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr10:58921400-58923000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:58923000-58923200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr10:58923200-58924400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:58923400-58925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:58924400-58924600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr10:58924800-58926200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr10:58925000-58925600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:58925000-58925800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr10:58925000-58926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:58925200-58925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:58925400-58925600	ZNF genes & repeats	Lung	lung
25	chr10:58925400-58925800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:58925400-58926000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:58925600-58926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:58925800-58926600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:58926000-58926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:58926400-58927200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:58926600-58927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:58927200-58928200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:58927800-58928800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr10:58928200-58929000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:58930200-58959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:58932400-58932800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:58932800-58933000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:58933000-58947200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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