Variant report

Variant	nsv895512
Chromosome Location	chr10:58640650-58834542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58778105..58780680-chr10:58788272..58790903,2	MCF-7	breast:
2	chr10:58778105..58780680-chr10:58788272..58790903,2	MCF-7	breast:
3	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
4	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:

Extended variants
information (count: 1436 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6481237	chr10:58640650-58640651	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1925296	chr10:58640728-58640729	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139284836	chr10:58640738-58640739	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570916946	chr10:58640745-58640746	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187726314	chr10:58640749-58640750	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540035822	chr10:58640753-58640754	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558113924	chr10:58640768-58640769	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61854711	chr10:58640769-58640770	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192806990	chr10:58640780-58640781	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs35044524	chr10:58640799-58640800	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35097418	chr10:58640846-58640847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199984394	chr10:58640848-58640849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369446629	chr10:58640851-58640852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144298198	chr10:58640888-58640889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540556687	chr10:58640889-58640890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11005571	chr10:58640900-58640901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184358191	chr10:58640947-58640948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574116621	chr10:58640953-58640954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541413623	chr10:58640962-58640963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187705618	chr10:58640981-58640982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368036567	chr10:58641007-58641008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146545515	chr10:58641026-58641027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35317000	chr10:58641131-58641132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551587342	chr10:58641143-58641144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76712615	chr10:58641195-58641196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537301679	chr10:58641205-58641206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528280373	chr10:58641219-58641220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546932084	chr10:58641234-58641235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568335918	chr10:58641253-58641254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535856845	chr10:58641303-58641304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75646731	chr10:58641331-58641332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141257720	chr10:58641395-58641396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569559518	chr10:58641397-58641398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117838134	chr10:58641460-58641461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558214770	chr10:58641493-58641494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192732646	chr10:58641494-58641495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144864449	chr10:58641521-58641522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12764475	chr10:58641535-58641536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1925297	chr10:58641620-58641621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs184041952	chr10:58641638-58641639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145651782	chr10:58641639-58641640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563182341	chr10:58641640-58641641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575156835	chr10:58641645-58641646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545614642	chr10:58641684-58641685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189193273	chr10:58641714-58641715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111816071	chr10:58641723-58641724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1925298	chr10:58641732-58641733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181551929	chr10:58641742-58641743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539332710	chr10:58641746-58641747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557103513	chr10:58641764-58641765	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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58640200-58640800	Flanking Active TSS	Fetal Lung	lung
2	chr10:58640400-58640800	Enhancers	Adipose Nuclei	Adipose
3	chr10:58640400-58641200	Enhancers	Ovary	ovary
4	chr10:58640600-58641200	Enhancers	Fetal Stomach	stomach
5	chr10:58640800-58642000	Enhancers	Fetal Lung	lung
6	chr10:58641000-58641600	Enhancers	Fetal Kidney	kidney
7	chr10:58655200-58655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:58676800-58677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:58688600-58689200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr10:58688600-58689600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:58694600-58694800	ZNF genes & repeats	Gastric	stomach
12	chr10:58694600-58698000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:58705200-58707200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:58705600-58706000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:58722800-58723400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:58734600-58734800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:58736600-58737000	Enhancers	Fetal Heart	heart
18	chr10:58769400-58772000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:58770000-58770200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:58770400-58773800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr10:58772000-58776200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:58772800-58774600	Weak transcription	Right Atrium	heart
23	chr10:58774200-58774600	Enhancers	Right Ventricle	heart
24	chr10:58774200-58776200	Enhancers	Fetal Heart	heart
25	chr10:58774400-58774800	Enhancers	Left Ventricle	heart
26	chr10:58774600-58775200	Active TSS	Right Atrium	heart
27	chr10:58774800-58775000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:58774800-58775200	Active TSS	Left Ventricle	heart
29	chr10:58774800-58775200	Active TSS	Right Ventricle	heart
30	chr10:58775000-58775200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr10:58775000-58775200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr10:58775000-58775200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:58775200-58775400	Flanking Active TSS	Left Ventricle	heart
34	chr10:58775200-58775400	Enhancers	Right Atrium	heart
35	chr10:58775200-58776000	Weak transcription	Right Ventricle	heart
36	chr10:58775200-58776200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:58775200-58777000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr10:58775200-58777000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr10:58775200-58777200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:58775400-58776200	Enhancers	Left Ventricle	heart
41	chr10:58775400-58777000	Weak transcription	Right Atrium	heart
42	chr10:58776000-58776200	Enhancers	Right Ventricle	heart
43	chr10:58776200-58776400	Weak transcription	Right Ventricle	heart
44	chr10:58776200-58777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:58776200-58779800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:58777000-58777400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr10:58777000-58777400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr10:58777000-58777400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:58777000-58777600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:58777000-58779200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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