Variant report

Variant	nsv820063
Chromosome Location	chr10:96954277-96954895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530002609	chr10:96954277-96954278	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs591157	chr10:96954298-96954299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11188225	chr10:96954360-96954361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11591256	chr10:96954425-96954426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs592041	chr10:96954473-96954474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs592055	chr10:96954479-96954480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs147411988	chr10:96954490-96954491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs681838	chr10:96954511-96954512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139748655	chr10:96954538-96954539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544576358	chr10:96954548-96954549	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542903005	chr10:96954584-96954585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145317273	chr10:96954602-96954603	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576309640	chr10:96954663-96954664	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545491227	chr10:96954670-96954671	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377087973	chr10:96954716-96954717	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10882566	chr10:96954732-96954733	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147561122	chr10:96954754-96954755	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148598720	chr10:96954764-96954765	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561056826	chr10:96954846-96954847	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530064372	chr10:96954873-96954874	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96943400-96955200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:96944000-96954800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:96944000-96955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:96944000-96955800	Weak transcription	Aorta	Aorta
5	chr10:96944000-96961400	Weak transcription	Fetal Intestine Small	intestine
6	chr10:96944200-96990400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:96948600-96955200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:96949800-96980600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:96952800-96974600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:96953600-96954400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:96953600-96954400	Enhancers	Thymus	Thymus
12	chr10:96953800-96954600	Enhancers	Fetal Muscle Leg	muscle
13	chr10:96953800-96954600	Flanking Active TSS	Fetal Thymus	thymus
14	chr10:96953800-96956200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:96953800-96956400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:96953800-96956800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:96953800-96956800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:96954000-96954600	Enhancers	Stomach Mucosa	stomach
19	chr10:96954000-96955800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:96954200-96954600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr10:96954200-96954600	Enhancers	Pancreas	Pancrea
22	chr10:96954200-96955400	Enhancers	HepG2	liver
23	chr10:96954400-96954600	Enhancers	HSMMtube	muscle
24	chr10:96954400-96954800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:96954400-96955800	Weak transcription	Thymus	Thymus
26	chr10:96954400-96956400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr10:96954600-96955000	Active TSS	Fetal Thymus	thymus
28	chr10:96954600-96955000	Weak transcription	Pancreas	Pancrea
29	chr10:96954600-96955200	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:96954600-96955600	Weak transcription	HSMMtube	muscle
31	chr10:96954600-96957000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:96954600-96957000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr10:96954800-96956200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:96954800-96956200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr10:96954800-96956200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:96954800-96957000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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