Variant report

Variant	esv3375471
Chromosome Location	chr10:744152-748550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:731969..737087-chr10:747564..751327,5	MCF-7	breast:
2	chr10:736326..739216-chr10:743425..745379,3	K562	blood:
3	chr10:739447..741646-chr10:745969..747507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs142934933	chr10:744162-744163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563894255	chr10:744163-744164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189690774	chr10:744165-744166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114458813	chr10:744263-744264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200801492	chr10:744294-744295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192339079	chr10:744306-744307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540577063	chr10:744308-744309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564117691	chr10:744322-744323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533432266	chr10:744328-744329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529508997	chr10:744329-744330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184467793	chr10:744346-744347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189624694	chr10:744349-744350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576575944	chr10:744351-744352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566134419	chr10:744352-744353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556198818	chr10:744354-744355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201956421	chr10:744369-744370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs816305	chr10:744407-744408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557834133	chr10:744418-744419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571634446	chr10:744420-744421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181885887	chr10:744421-744422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186214812	chr10:744439-744440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575819510	chr10:744465-744466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541669436	chr10:744472-744473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189167373	chr10:744492-744493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571766190	chr10:744496-744497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541135553	chr10:744515-744516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563905396	chr10:744521-744522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370367914	chr10:744531-744532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532979857	chr10:744562-744563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543748640	chr10:744582-744583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12763675	chr10:744591-744592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528611132	chr10:744631-744632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151176479	chr10:744662-744663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549560173	chr10:744681-744682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560005891	chr10:744699-744700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140178860	chr10:744714-744715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551877353	chr10:744716-744717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571532210	chr10:744747-744748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551753435	chr10:744823-744824	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs146941560	chr10:744829-744830	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs137905110	chr10:744854-744855	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs143370557	chr10:744873-744874	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs537334168	chr10:744874-744875	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs555106644	chr10:744881-744882	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs2986286	chr10:744882-744883	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs79971896	chr10:744905-744906	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs73576306	chr10:744930-744931	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs77462697	chr10:744968-744969	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs181647112	chr10:744969-744970	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs59501186	chr10:745050-745051	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:736400-746400	Weak transcription	Right Atrium	heart
2	chr10:737600-746000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:739800-746000	Weak transcription	Spleen	Spleen
4	chr10:740000-746200	Weak transcription	Pancreas	Pancrea
5	chr10:743800-746000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:744000-746400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:744800-746000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:745200-745400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:745200-745800	Bivalent Enhancer	Fetal Kidney	kidney
10	chr10:745400-745800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:745400-745800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:745600-745800	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr10:746000-746200	Bivalent/Poised TSS	Fetal Lung	lung
14	chr10:746000-746600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:746000-746600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:746200-746400	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr10:746200-746600	ZNF genes & repeats	Pancreas	Pancrea
18	chr10:746400-746600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:746400-746600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:746400-746600	Bivalent Enhancer	Fetal Kidney	kidney
21	chr10:746400-746600	Enhancers	Gastric	stomach
22	chr10:746400-746600	ZNF genes & repeats	Right Atrium	heart
23	chr10:746600-746800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:746600-747200	Weak transcription	Right Atrium	heart
25	chr10:746600-751600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:746600-758000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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