Variant report

Variant	nsv550289
Chromosome Location	chr10:28659502-28664743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000150054	chromatin interactions

Extended variants
information (count: 246 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12775665	chr10:28659529-28659530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558222340	chr10:28659554-28659555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76367538	chr10:28659555-28659556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80214618	chr10:28659581-28659582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149904080	chr10:28659600-28659601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531221472	chr10:28659634-28659635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113616656	chr10:28659643-28659644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527439802	chr10:28659649-28659650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146466213	chr10:28659664-28659665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557127197	chr10:28659729-28659730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141341891	chr10:28659749-28659750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191361340	chr10:28659759-28659760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547202058	chr10:28659762-28659763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564609923	chr10:28659788-28659789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116509789	chr10:28659800-28659801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78006153	chr10:28659827-28659828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567622056	chr10:28659903-28659904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78168628	chr10:28659907-28659908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112825193	chr10:28659929-28659930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529635524	chr10:28659988-28659989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183175800	chr10:28659996-28659997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115041508	chr10:28660075-28660076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376330255	chr10:28660079-28660080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74127208	chr10:28660118-28660119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552243944	chr10:28660168-28660169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71489618	chr10:28660191-28660192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561792212	chr10:28660194-28660195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561729048	chr10:28660195-28660196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370170569	chr10:28660198-28660199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556977515	chr10:28660199-28660200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377558444	chr10:28660201-28660202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3064296	chr10:28660234-28660235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200199414	chr10:28660238-28660239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3221528	chr10:28660239-28660240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185195119	chr10:28660280-28660281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530185749	chr10:28660290-28660291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534300174	chr10:28660291-28660292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76560499	chr10:28660306-28660307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567970259	chr10:28660337-28660338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189763563	chr10:28660363-28660364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557016864	chr10:28660374-28660375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575393785	chr10:28660381-28660382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539283528	chr10:28660403-28660404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115192347	chr10:28660404-28660405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78911932	chr10:28660418-28660419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540602937	chr10:28660447-28660448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562065405	chr10:28660474-28660475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574209725	chr10:28660503-28660504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182116452	chr10:28660598-28660599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1249271	chr10:28660603-28660604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:70 , 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	chr10:28654200-28660400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr10:28655000-28659600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:28656200-28661800	Weak transcription	Colonic Mucosa	Colon
5	chr10:28656800-28659800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr10:28657200-28659600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:28657200-28660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr10:28657200-28660400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:28657200-28662600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:28657400-28660000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr10:28657600-28659600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr10:28657600-28659600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:28657800-28659600	Enhancers	Primary T cells from cord blood	blood
14	chr10:28657800-28661400	Weak transcription	Placenta	Placenta
15	chr10:28658000-28659600	Weak transcription	HepG2	liver
16	chr10:28658600-28660800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:28659400-28664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:28659600-28659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:28659600-28660200	Enhancers	HepG2	liver
20	chr10:28659600-28667800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr10:28659800-28663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:28659800-28667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:28660000-28668200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr10:28660200-28663800	Weak transcription	HepG2	liver
25	chr10:28660400-28664400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:28660400-28664400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr10:28660400-28667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:28660800-28661000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:28661400-28662200	Enhancers	Placenta	Placenta
30	chr10:28662200-28663600	Weak transcription	Placenta	Placenta
31	chr10:28662600-28662800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr10:28662600-28664000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr10:28662800-28664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:28663200-28663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:28663400-28663800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:28663600-28664000	Enhancers	Placenta	Placenta
37	chr10:28663800-28664000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:28663800-28664000	Enhancers	Pancreas	Pancrea
39	chr10:28663800-28665400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:28663800-28665400	Enhancers	HMEC	breast
41	chr10:28663800-28666000	Enhancers	HepG2	liver
42	chr10:28664000-28664800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr10:28664000-28665000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr10:28664000-28665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr10:28664000-28665000	Weak transcription	Placenta	Placenta
46	chr10:28664000-28665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:28664200-28665000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr10:28664200-28665000	Enhancers	HSMMtube	muscle
49	chr10:28664200-28665200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:28664200-28665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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