Variant report

Variant	nsv947896
Chromosome Location	chr10:43678884-43680707
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	chr10:43679135..43682088-chr10:43694226..43696696,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CSGALNACT2	hsa-miR-215-5p	chr10:43680213-43680232
2	CSGALNACT2	hsa-miR-192-5p	chr10:43680213-43680232

Extended variants
information (count: 51 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147800973	chr10:43678925-43678926	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61744904	chr10:43678941-43678942	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150304104	chr10:43678942-43678943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369417913	chr10:43678943-43678944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373352099	chr10:43678958-43678959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55905621	chr10:43678959-43678960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138077386	chr10:43678986-43678987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373481820	chr10:43679004-43679005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74135474	chr10:43679006-43679007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17158959	chr10:43679060-43679061	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376457025	chr10:43679153-43679154	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547688010	chr10:43679173-43679174	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565810397	chr10:43679310-43679311	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539849682	chr10:43679323-43679324	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557716566	chr10:43679371-43679372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187791233	chr10:43679390-43679391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137886152	chr10:43679425-43679426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555395008	chr10:43679520-43679521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17363786	chr10:43679586-43679587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75720805	chr10:43679636-43679637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192574798	chr10:43679638-43679639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560015724	chr10:43679704-43679705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578169756	chr10:43679713-43679714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545816487	chr10:43679724-43679725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564058291	chr10:43679725-43679726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1059483	chr10:43679795-43679796	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs1059484	chr10:43679800-43679801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs375449901	chr10:43679878-43679879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374678510	chr10:43679936-43679937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183735355	chr10:43679942-43679943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17158965	chr10:43680024-43680025	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547256221	chr10:43680054-43680055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566000717	chr10:43680055-43680056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144715082	chr10:43680228-43680229	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
35	rs551409620	chr10:43680285-43680286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569718097	chr10:43680289-43680290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537006980	chr10:43680320-43680321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187680137	chr10:43680344-43680345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369949015	chr10:43680362-43680363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114356697	chr10:43680416-43680417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148219520	chr10:43680429-43680430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575847763	chr10:43680447-43680448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553273102	chr10:43680455-43680456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537855756	chr10:43680506-43680507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578224878	chr10:43680508-43680509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545709811	chr10:43680537-43680538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192901642	chr10:43680549-43680550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374803958	chr10:43680561-43680562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56353085	chr10:43680587-43680588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74562080	chr10:43680677-43680678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
2	chr10:43652600-43697200	Weak transcription	Pancreas	Pancrea
3	chr10:43655000-43680600	Weak transcription	Colonic Mucosa	Colon
4	chr10:43658800-43690600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr10:43660400-43687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:43662200-43684400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:43662200-43697600	Weak transcription	NHEK	skin
8	chr10:43662600-43690000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:43662800-43681600	Weak transcription	HMEC	breast
10	chr10:43663600-43679800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:43663600-43683800	Strong transcription	Fetal Thymus	thymus
12	chr10:43664000-43679600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr10:43664000-43680400	Strong transcription	Dnd41	blood
14	chr10:43665200-43680000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:43665400-43679400	Strong transcription	Thymus	Thymus
16	chr10:43665400-43679800	Strong transcription	Adipose Nuclei	Adipose
17	chr10:43667400-43679400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr10:43667600-43679200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr10:43667800-43685200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr10:43667800-43692800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:43668000-43685200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr10:43668200-43694000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:43668600-43683800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr10:43668600-43683800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:43668800-43680200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr10:43668800-43684400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:43669000-43684200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:43669600-43679000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:43669600-43689400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr10:43669800-43683000	Strong transcription	Fetal Brain Female	brain
31	chr10:43670000-43680000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:43670800-43679400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:43671000-43689800	Weak transcription	Gastric	stomach
34	chr10:43671200-43681800	Weak transcription	K562	blood
35	chr10:43671200-43683000	Weak transcription	Right Ventricle	heart
36	chr10:43671400-43679400	Strong transcription	Left Ventricle	heart
37	chr10:43671400-43682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:43671800-43679600	Strong transcription	Fetal Intestine Large	intestine
39	chr10:43672200-43690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:43672600-43679800	Strong transcription	HSMM	muscle
41	chr10:43673400-43683200	Weak transcription	Small Intestine	intestine
42	chr10:43673400-43684000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:43673600-43679400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:43673600-43680200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:43673600-43686400	Weak transcription	Colon Smooth Muscle	Colon
46	chr10:43673800-43680600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:43673800-43681800	Weak transcription	Fetal Brain Male	brain
48	chr10:43673800-43683000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr10:43673800-43684800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:43673800-43685000	Weak transcription	GM12878-XiMat	blood

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