Variant report

Variant	nsv551835
Chromosome Location	chr10:89653034-89653686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:89638682..89641996-chr10:89653428..89657390,3	K562	blood:
2	chr10:89646944..89651726-chr10:89652897..89657139,4	MCF-7	breast:
3	chr10:89642392..89644637-chr10:89652677..89655610,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187261687	chr10:89653058-89653059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34073305	chr10:89653075-89653076	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534547088	chr10:89653107-89653108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370543522	chr10:89653131-89653132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185303478	chr10:89653140-89653141	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150763473	chr10:89653158-89653159	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188225094	chr10:89653200-89653201	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575220604	chr10:89653208-89653209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545575729	chr10:89653223-89653224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35401235	chr10:89653227-89653228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192792326	chr10:89653301-89653302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35168634	chr10:89653362-89653363	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184249068	chr10:89653372-89653373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560063964	chr10:89653398-89653399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113977734	chr10:89653422-89653423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139154420	chr10:89653448-89653449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188313022	chr10:89653534-89653535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569929184	chr10:89653549-89653550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530983384	chr10:89653560-89653561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552381593	chr10:89653574-89653575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556643409	chr10:89653621-89653622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2471996	chr10:89653632-89653633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570621629	chr10:89653639-89653640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144114389	chr10:89653641-89653642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548514151	chr10:89653655-89653656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181815033	chr10:89653675-89653676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1903858	chr10:89653686-89653687	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:120)

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
Thoracic aortic aneurysm	21092924	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
Acute lymphoblastic leukemia	22237106	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Glioblastoma multiforme	19115005	CNVD
Prostate cancer	21147910	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	20020426	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22065749	CNVD
Cancer	22000013	CNVD
Colon cancer	22065749	CNVD
Endometrial cancer	22065749	CNVD
Lung cancer	20668451	CNVD
Breast cancer	17634833	CNVD
Cancer	20215515	CNVD
Glioblastoma multiforme	21727940	CNVD
Prostate cancer	19363497	CNVD
Prostate cancer	17700571	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Ovarian cancer	21781307	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20964600	CNVD
Endometrial cancer	19261849	CNVD
Central neurocytomas	17123091	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Breast cancer	21486468	CNVD
Ovarian cancer	21486468	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89625600-89663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:89628400-89662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:89631000-89663400	Weak transcription	Brain Angular Gyrus	brain
4	chr10:89633000-89663400	Weak transcription	Pancreas	Pancrea
5	chr10:89633400-89675800	Weak transcription	Small Intestine	intestine
6	chr10:89633800-89655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:89636000-89655400	Weak transcription	Brain Substantia Nigra	brain
8	chr10:89636200-89661800	Weak transcription	Brain Anterior Caudate	brain
9	chr10:89639000-89655400	Weak transcription	Fetal Heart	heart
10	chr10:89639000-89655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:89639000-89656200	Weak transcription	Stomach Mucosa	stomach
12	chr10:89641600-89663000	Weak transcription	Esophagus	oesophagus
13	chr10:89642600-89657000	Strong transcription	Dnd41	blood
14	chr10:89644600-89654000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:89646600-89663800	Weak transcription	Fetal Kidney	kidney
16	chr10:89646800-89655800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:89646800-89657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:89646800-89659400	Strong transcription	Fetal Thymus	thymus
19	chr10:89646800-89663000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:89647000-89655400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:89647000-89667400	Weak transcription	HMEC	breast
22	chr10:89647000-89711200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:89647200-89657400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:89647200-89662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:89647200-89675400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:89647600-89655400	Weak transcription	Fetal Brain Female	brain
27	chr10:89647600-89656600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:89647600-89657000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:89647600-89671800	Weak transcription	HUVEC	blood vessel
30	chr10:89647800-89655600	Weak transcription	Liver	Liver
31	chr10:89647800-89657000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:89647800-89662000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:89647800-89665600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:89647800-89671000	Weak transcription	A549	lung
35	chr10:89648000-89654600	Weak transcription	Psoas Muscle	Psoas
36	chr10:89648000-89656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:89648000-89656800	Weak transcription	Fetal Intestine Small	intestine
38	chr10:89648000-89656800	Weak transcription	Left Ventricle	heart
39	chr10:89648000-89657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:89648000-89657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:89648000-89663000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:89648000-89663000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:89648000-89663000	Weak transcription	Lung	lung
44	chr10:89648000-89663200	Weak transcription	Gastric	stomach
45	chr10:89648000-89663200	Weak transcription	Spleen	Spleen
46	chr10:89648000-89664200	Weak transcription	NH-A	brain
47	chr10:89648000-89683000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:89648200-89657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:89648200-89662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:89648200-89663000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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