Variant report

Variant	esv3337700
Chromosome Location	chr10:28663096-28666094
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	chr10:28591043..28593687-chr10:28664623..28666439,2	MCF-7	breast:
3	chr10:28663936..28666501-chr10:28668438..28671380,2	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: 111 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80084301	chr10:28663114-28663115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577826926	chr10:28663124-28663125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544990463	chr10:28663163-28663164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149272879	chr10:28663246-28663247	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560190837	chr10:28663253-28663254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34085854	chr10:28663261-28663262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs61849570	chr10:28663270-28663271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561265952	chr10:28663277-28663278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535315125	chr10:28663278-28663279	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148400496	chr10:28663294-28663295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11007064	chr10:28663357-28663358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565012058	chr10:28663388-28663389	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144007961	chr10:28663404-28663405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546251428	chr10:28663556-28663557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78643399	chr10:28663573-28663574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs59443181	chr10:28663639-28663640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139877931	chr10:28663645-28663646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61849571	chr10:28663675-28663676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72298420	chr10:28663678-28663679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34464117	chr10:28663695-28663696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568631043	chr10:28663698-28663699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192131980	chr10:28663707-28663708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548577386	chr10:28663710-28663711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555676463	chr10:28663711-28663712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570360805	chr10:28663712-28663713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537213005	chr10:28663725-28663726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559214698	chr10:28663735-28663736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571313958	chr10:28663742-28663743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558447816	chr10:28663744-28663745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538730069	chr10:28663791-28663792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183974604	chr10:28663869-28663870	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1573126	chr10:28663874-28663875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116770757	chr10:28663892-28663893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143766463	chr10:28663939-28663940	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114821274	chr10:28663945-28663946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554262574	chr10:28663958-28663959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs5784059	chr10:28663959-28663960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs397751020	chr10:28663969-28663970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112723874	chr10:28663974-28663975	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76768421	chr10:28664049-28664050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564747595	chr10:28664097-28664098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145082468	chr10:28664163-28664164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369721185	chr10:28664167-28664168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188514120	chr10:28664168-28664169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201590731	chr10:28664204-28664205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2126751	chr10:28664275-28664276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191940591	chr10:28664276-28664277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530026091	chr10:28664328-28664329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182862429	chr10:28664383-28664384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35580134	chr10:28664402-28664403	Weak transcription Enhancers	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:72 , 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	chr10:28659800-28663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:28659800-28667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr10:28660000-28668200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:28660200-28663800	Weak transcription	HepG2	liver
8	chr10:28660400-28664400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:28660400-28664400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr10:28660400-28667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:28662200-28663600	Weak transcription	Placenta	Placenta
12	chr10:28662600-28664000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr10:28662800-28664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:28663200-28663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:28663400-28663800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:28663600-28664000	Enhancers	Placenta	Placenta
17	chr10:28663800-28664000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:28663800-28664000	Enhancers	Pancreas	Pancrea
19	chr10:28663800-28665400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:28663800-28665400	Enhancers	HMEC	breast
21	chr10:28663800-28666000	Enhancers	HepG2	liver
22	chr10:28664000-28664800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:28664000-28665000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:28664000-28665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:28664000-28665000	Weak transcription	Placenta	Placenta
26	chr10:28664000-28665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:28664200-28665000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:28664200-28665000	Enhancers	HSMMtube	muscle
29	chr10:28664200-28665200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:28664200-28665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:28664200-28665200	Weak transcription	Pancreas	Pancrea
32	chr10:28664200-28665200	Enhancers	NHEK	skin
33	chr10:28664400-28664800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr10:28664400-28664800	Enhancers	HSMM	muscle
35	chr10:28664400-28665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:28664400-28665000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr10:28664400-28665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:28664400-28665000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:28664400-28665000	Enhancers	Duodenum Mucosa	Duodenum
40	chr10:28664400-28665000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr10:28664400-28665200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:28664400-28665200	Enhancers	Fetal Heart	heart
43	chr10:28664400-28665200	Enhancers	A549	lung
44	chr10:28664400-28665400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:28664400-28665800	Enhancers	Aorta	Aorta
46	chr10:28664400-28666200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr10:28664400-28666800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr10:28664600-28665200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr10:28664600-28665200	Enhancers	Osteobl	bone
50	chr10:28664600-28665400	Enhancers	Stomach Mucosa	stomach

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