Variant report

Variant	esv3314352
Chromosome Location	chr10:28662046-28666844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000150054	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs572422553	chr10:28662101-28662102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529886386	chr10:28662137-28662138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185272850	chr10:28662138-28662139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190174228	chr10:28662153-28662154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551008414	chr10:28662179-28662180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181512933	chr10:28662187-28662188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1262021	chr10:28662188-28662189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185549077	chr10:28662205-28662206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577688870	chr10:28662275-28662276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570466591	chr10:28662281-28662282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112175707	chr10:28662304-28662305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57673230	chr10:28662306-28662307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545054109	chr10:28662307-28662308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371492172	chr10:28662312-28662313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61125297	chr10:28662314-28662315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202015040	chr10:28662316-28662317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199876462	chr10:28662318-28662319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57920635	chr10:28662321-28662322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370008680	chr10:28662325-28662326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201215898	chr10:28662327-28662328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376303284	chr10:28662328-28662329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559308323	chr10:28662330-28662331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372478947	chr10:28662331-28662332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141551045	chr10:28662338-28662339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35516681	chr10:28662339-28662340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11007061	chr10:28662342-28662343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11007062	chr10:28662345-28662346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11007063	chr10:28662352-28662353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374068471	chr10:28662353-28662354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377113259	chr10:28662357-28662358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56692319	chr10:28662359-28662360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372717209	chr10:28662361-28662362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375385567	chr10:28662362-28662363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113617993	chr10:28662363-28662364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371736325	chr10:28662367-28662368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527603630	chr10:28662381-28662382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549123308	chr10:28662406-28662407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560919413	chr10:28662421-28662422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180886034	chr10:28662433-28662434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79891290	chr10:28662482-28662483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149326433	chr10:28662540-28662541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538614113	chr10:28662593-28662594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74345722	chr10:28662616-28662617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565985825	chr10:28662626-28662627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112953049	chr10:28662635-28662636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536552733	chr10:28662670-28662671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201544602	chr10:28662675-28662676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368941947	chr10:28662726-28662727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555283425	chr10:28662731-28662732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35105348	chr10:28662740-28662741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:77 , 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	chr10:28657200-28662600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:28659400-28664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:28659600-28667800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr10:28659800-28663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:28659800-28667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr10:28660000-28668200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:28660200-28663800	Weak transcription	HepG2	liver
9	chr10:28660400-28664400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:28660400-28664400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr10:28660400-28667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr10:28661400-28662200	Enhancers	Placenta	Placenta
13	chr10:28662200-28663600	Weak transcription	Placenta	Placenta
14	chr10:28662600-28662800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:28662600-28664000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr10:28662800-28664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:28663200-28663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:28663400-28663800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:28663600-28664000	Enhancers	Placenta	Placenta
20	chr10:28663800-28664000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:28663800-28664000	Enhancers	Pancreas	Pancrea
22	chr10:28663800-28665400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:28663800-28665400	Enhancers	HMEC	breast
24	chr10:28663800-28666000	Enhancers	HepG2	liver
25	chr10:28664000-28664800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr10:28664000-28665000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:28664000-28665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:28664000-28665000	Weak transcription	Placenta	Placenta
29	chr10:28664000-28665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:28664200-28665000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr10:28664200-28665000	Enhancers	HSMMtube	muscle
32	chr10:28664200-28665200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:28664200-28665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:28664200-28665200	Weak transcription	Pancreas	Pancrea
35	chr10:28664200-28665200	Enhancers	NHEK	skin
36	chr10:28664400-28664800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:28664400-28664800	Enhancers	HSMM	muscle
38	chr10:28664400-28665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:28664400-28665000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr10:28664400-28665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr10:28664400-28665000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:28664400-28665000	Enhancers	Duodenum Mucosa	Duodenum
43	chr10:28664400-28665000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr10:28664400-28665200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:28664400-28665200	Enhancers	Fetal Heart	heart
46	chr10:28664400-28665200	Enhancers	A549	lung
47	chr10:28664400-28665400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:28664400-28665800	Enhancers	Aorta	Aorta
49	chr10:28664400-28666200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr10:28664400-28666800	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links