Variant report

Variant	nsv550320
Chromosome Location	chr10:28664275-28665418
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	chr10:28591610..28593155-chr10:28664575..28666519,2	MCF-7	breast:
3	chr10:28591043..28593687-chr10:28664623..28666439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150054	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 41 )

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	rs2126751	chr10:28664275-28664276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191940591	chr10:28664276-28664277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530026091	chr10:28664328-28664329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182862429	chr10:28664383-28664384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35580134	chr10:28664402-28664403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570224178	chr10:28664412-28664413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2169667	chr10:28664467-28664468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2169668	chr10:28664470-28664471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547659542	chr10:28664475-28664476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571056539	chr10:28664487-28664488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2169669	chr10:28664493-28664494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61849572	chr10:28664537-28664538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187203107	chr10:28664606-28664607	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113941476	chr10:28664632-28664633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115015678	chr10:28664636-28664637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554554388	chr10:28664678-28664679	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71391032	chr10:28664686-28664687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574526557	chr10:28664834-28664835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147980887	chr10:28664843-28664844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs386742348	chr10:28664848-28664849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7098921	chr10:28664849-28664850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7099376	chr10:28664886-28664887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191743034	chr10:28664887-28664888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540860672	chr10:28664959-28664960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12260243	chr10:28665041-28665042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559386437	chr10:28665045-28665046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574895592	chr10:28665065-28665066	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541807874	chr10:28665122-28665123	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140580717	chr10:28665137-28665138	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150481384	chr10:28665142-28665143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7099335	chr10:28665159-28665160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564805857	chr10:28665169-28665170	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145428110	chr10:28665190-28665191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547238485	chr10:28665245-28665246	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117419895	chr10:28665261-28665262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536355783	chr10:28665297-28665298	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371653981	chr10:28665315-28665316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569629192	chr10:28665322-28665323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7083882	chr10:28665347-28665348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548861091	chr10:28665349-28665350	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113263917	chr10:28665416-28665417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10430559	chr10:28665418-28665419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:58 , 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	chr10:28659400-28664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:28659600-28667800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr10:28659800-28667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr10:28660000-28668200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:28660400-28664400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr10:28660400-28664400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr10:28660400-28667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:28663800-28665400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:28663800-28665400	Enhancers	HMEC	breast
11	chr10:28663800-28666000	Enhancers	HepG2	liver
12	chr10:28664000-28664800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:28664000-28665000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr10:28664000-28665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:28664000-28665000	Weak transcription	Placenta	Placenta
16	chr10:28664000-28665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:28664200-28665000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:28664200-28665000	Enhancers	HSMMtube	muscle
19	chr10:28664200-28665200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:28664200-28665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:28664200-28665200	Weak transcription	Pancreas	Pancrea
22	chr10:28664200-28665200	Enhancers	NHEK	skin
23	chr10:28664400-28664800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr10:28664400-28664800	Enhancers	HSMM	muscle
25	chr10:28664400-28665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:28664400-28665000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr10:28664400-28665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr10:28664400-28665000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr10:28664400-28665000	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:28664400-28665000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:28664400-28665200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:28664400-28665200	Enhancers	Fetal Heart	heart
33	chr10:28664400-28665200	Enhancers	A549	lung
34	chr10:28664400-28665400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:28664400-28665800	Enhancers	Aorta	Aorta
36	chr10:28664400-28666200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr10:28664400-28666800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:28664600-28665200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr10:28664600-28665200	Enhancers	Osteobl	bone
40	chr10:28664600-28665400	Enhancers	Stomach Mucosa	stomach
41	chr10:28664800-28665000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:28664800-28665200	Enhancers	Hela-S3	cervix
43	chr10:28664800-28666000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr10:28664800-28670600	Weak transcription	HSMM	muscle
45	chr10:28665000-28665400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:28665000-28665400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:28665000-28666000	Enhancers	Placenta	Placenta
48	chr10:28665000-28667600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:28665200-28665600	Enhancers	Pancreas	Pancrea
50	chr10:28665200-28665800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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