Variant report

Variant	nsv522731
Chromosome Location	chr10:50293456-50294670
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	chr10:50287416..50289075-chr10:50291865..50294530,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12269023	chr10:50293456-50293457	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184205545	chr10:50293530-50293531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146468073	chr10:50293549-50293550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532863784	chr10:50293556-50293557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10508910	chr10:50293567-50293568	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190009237	chr10:50293656-50293657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369375035	chr10:50293664-50293665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569247147	chr10:50293783-50293784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181365496	chr10:50293784-50293785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556980015	chr10:50293794-50293795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548301490	chr10:50293818-50293819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566608022	chr10:50293826-50293827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61848381	chr10:50293832-50293833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533993845	chr10:50293899-50293900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558736976	chr10:50293900-50293901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554137674	chr10:50293934-50293935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564572998	chr10:50293936-50293937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78097647	chr10:50293954-50293955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576733904	chr10:50293974-50293975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374010764	chr10:50293981-50293982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369685389	chr10:50293982-50293983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373630221	chr10:50294095-50294096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574531875	chr10:50294153-50294154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541825419	chr10:50294156-50294157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560323369	chr10:50294158-50294159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572188179	chr10:50294164-50294165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545553236	chr10:50294184-50294185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565480278	chr10:50294234-50294235	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386743543	chr10:50294262-50294263	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4508127	chr10:50294263-50294264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562841467	chr10:50294315-50294316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530067585	chr10:50294330-50294331	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548190517	chr10:50294340-50294341	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566499530	chr10:50294376-50294377	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186518741	chr10:50294426-50294427	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77007213	chr10:50294432-50294433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80275624	chr10:50294443-50294444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374505215	chr10:50294447-50294448	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537640491	chr10:50294489-50294490	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556449939	chr10:50294619-50294620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375361425	chr10:50294626-50294627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4317904	chr10:50294670-50294671	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50272600-50294200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:50283200-50298200	Weak transcription	Spleen	Spleen
3	chr10:50288400-50293600	Enhancers	HSMMtube	muscle
4	chr10:50289000-50294200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:50289200-50294400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:50289400-50294200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:50289600-50298800	Weak transcription	Fetal Thymus	thymus
8	chr10:50290200-50298200	Weak transcription	Colonic Mucosa	Colon
9	chr10:50290400-50295000	Weak transcription	K562	blood
10	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
11	chr10:50291200-50297200	Weak transcription	Lung	lung
12	chr10:50291400-50293800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:50291600-50293800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:50291600-50294200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:50291800-50299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:50292200-50294200	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:50292200-50294400	Weak transcription	Brain Angular Gyrus	brain
18	chr10:50292200-50294400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:50292200-50296400	Weak transcription	Right Atrium	heart
20	chr10:50292200-50296600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:50292200-50302600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:50292200-50311800	Weak transcription	Aorta	Aorta
23	chr10:50292400-50294200	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:50292600-50294000	Weak transcription	Brain Anterior Caudate	brain
25	chr10:50293000-50293600	Strong transcription	Left Ventricle	heart
26	chr10:50293000-50294200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:50293000-50294400	Weak transcription	Fetal Lung	lung
28	chr10:50293200-50294400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:50293200-50296400	Weak transcription	Right Ventricle	heart
30	chr10:50293200-50297000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:50293400-50294200	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:50293400-50294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:50293400-50294400	Weak transcription	Fetal Intestine Large	intestine
34	chr10:50293400-50294400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:50293400-50296600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:50293400-50296600	Weak transcription	Fetal Stomach	stomach
37	chr10:50293400-50296800	Weak transcription	Ovary	ovary
38	chr10:50293400-50312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:50293600-50294000	Weak transcription	Left Ventricle	heart
40	chr10:50293600-50294200	Weak transcription	HSMMtube	muscle
41	chr10:50293800-50294000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:50294000-50294400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:50294000-50294600	Strong transcription	Left Ventricle	heart
44	chr10:50294200-50294600	ZNF genes & repeats	HSMMtube	muscle
45	chr10:50294200-50294800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr10:50294200-50295600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:50294200-50295800	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr10:50294400-50294600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:50294400-50294600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:50294400-50294800	ZNF genes & repeats	Brain Angular Gyrus	brain

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