Variant report

Variant	nsv550287
Chromosome Location	chr10:28658275-28664798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:28591813..28593697-chr10:28661899..28664079,2	MCF-7	breast:
2	chr10:28663936..28666501-chr10:28668438..28671380,2	MCF-7	breast:
3	chr10:28591610..28593155-chr10:28664575..28666519,2	MCF-7	breast:
4	chr10:28592071..28593938-chr10:28656842..28659307,2	MCF-7	breast:
5	chr10:28591043..28593687-chr10:28664623..28666439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150054	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1148198	chr10:28658275-28658276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142045884	chr10:28658323-28658324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571019697	chr10:28658324-28658325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528802252	chr10:28658441-28658442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547167085	chr10:28658479-28658480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568666668	chr10:28658486-28658487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536096485	chr10:28658490-28658491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111685290	chr10:28658605-28658606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554352996	chr10:28658653-28658654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71489617	chr10:28658655-28658656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536615072	chr10:28658656-28658657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562375365	chr10:28658674-28658675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558540699	chr10:28658679-28658680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576687508	chr10:28658707-28658708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181747957	chr10:28658717-28658718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552898444	chr10:28658718-28658719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112474245	chr10:28658824-28658825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1148199	chr10:28658826-28658827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs370645575	chr10:28658847-28658848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563600727	chr10:28658850-28658851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531047958	chr10:28658876-28658877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2797594	chr10:28658887-28658888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs58789696	chr10:28658952-28658953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566979638	chr10:28658954-28658955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546448993	chr10:28658988-28658989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564506489	chr10:28658991-28658992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374148282	chr10:28659001-28659002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552875542	chr10:28659067-28659068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186926361	chr10:28659116-28659117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113393269	chr10:28659167-28659168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547303538	chr10:28659172-28659173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539310704	chr10:28659208-28659209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568803495	chr10:28659267-28659268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74127207	chr10:28659270-28659271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372357929	chr10:28659374-28659375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551177723	chr10:28659381-28659382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1249575	chr10:28659440-28659441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs12775665	chr10:28659529-28659530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558222340	chr10:28659554-28659555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76367538	chr10:28659555-28659556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80214618	chr10:28659581-28659582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149904080	chr10:28659600-28659601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531221472	chr10:28659634-28659635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113616656	chr10:28659643-28659644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527439802	chr10:28659649-28659650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146466213	chr10:28659664-28659665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557127197	chr10:28659729-28659730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141341891	chr10:28659749-28659750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191361340	chr10:28659759-28659760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547202058	chr10:28659762-28659763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28644400-28665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:28653600-28658400	Enhancers	Fetal Intestine Large	intestine
3	chr10:28654000-28658800	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:28654200-28660400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:28655000-28659600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:28655400-28658800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:28656200-28661800	Weak transcription	Colonic Mucosa	Colon
8	chr10:28656800-28658600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:28656800-28659800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr10:28657200-28658600	Enhancers	Primary B cells from cord blood	blood
11	chr10:28657200-28658600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:28657200-28659400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:28657200-28659600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr10:28657200-28660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr10:28657200-28660400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:28657200-28662600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:28657400-28658400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:28657400-28658600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr10:28657400-28660000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr10:28657600-28659600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr10:28657600-28659600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:28657800-28659400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr10:28657800-28659600	Enhancers	Primary T cells from cord blood	blood
24	chr10:28657800-28661400	Weak transcription	Placenta	Placenta
25	chr10:28658000-28659600	Weak transcription	HepG2	liver
26	chr10:28658200-28658600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:28658600-28660800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:28659400-28664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:28659600-28659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:28659600-28660200	Enhancers	HepG2	liver
31	chr10:28659600-28667800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:28659800-28663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:28659800-28667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr10:28660000-28668200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr10:28660200-28663800	Weak transcription	HepG2	liver
36	chr10:28660400-28664400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr10:28660400-28664400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr10:28660400-28667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr10:28660800-28661000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:28661400-28662200	Enhancers	Placenta	Placenta
41	chr10:28662200-28663600	Weak transcription	Placenta	Placenta
42	chr10:28662600-28662800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:28662600-28664000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr10:28662800-28664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:28663200-28663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:28663400-28663800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:28663600-28664000	Enhancers	Placenta	Placenta
48	chr10:28663800-28664000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:28663800-28664000	Enhancers	Pancreas	Pancrea
50	chr10:28663800-28665400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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