Variant report

Variant	esv3365642
Chromosome Location	chr10:27274319-27283413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27279898..27282608-chr10:27294339..27295905,2	K562	blood:
2	chr10:27278560..27280778-chr10:27284132..27286157,2	MCF-7	breast:
3	chr10:27276414..27278401-chr10:27289394..27292379,2	K562	blood:

Extended variants
information (count: 313 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35970026	chr10:27274328-27274329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564226637	chr10:27274344-27274345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77655442	chr10:27274368-27274369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34750729	chr10:27274387-27274388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549579585	chr10:27274403-27274404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569394877	chr10:27274436-27274437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188420859	chr10:27274458-27274459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548563910	chr10:27274463-27274464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571564333	chr10:27274526-27274527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73596342	chr10:27274542-27274543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79953357	chr10:27274594-27274595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116310101	chr10:27274607-27274608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143060181	chr10:27274622-27274623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9971103	chr10:27274632-27274633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111765536	chr10:27274649-27274650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180932891	chr10:27274680-27274681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576586053	chr10:27274681-27274682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536001175	chr10:27274688-27274689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150678016	chr10:27274727-27274728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185775189	chr10:27274750-27274751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377574127	chr10:27274758-27274759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566255945	chr10:27274774-27274775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192325016	chr10:27274840-27274841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34465845	chr10:27274853-27274854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535216663	chr10:27274871-27274872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4253976	chr10:27274879-27274880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574333649	chr10:27274929-27274930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543189363	chr10:27274938-27274939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563186897	chr10:27274958-27274959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528944165	chr10:27274967-27274968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36164349	chr10:27275033-27275034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575356224	chr10:27275039-27275040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548630374	chr10:27275240-27275241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559189670	chr10:27275292-27275293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528063190	chr10:27275312-27275313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373421621	chr10:27275442-27275443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571110029	chr10:27275464-27275465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540166144	chr10:27275475-27275476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550395255	chr10:27275544-27275545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556483594	chr10:27275709-27275710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149490734	chr10:27275804-27275805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184053122	chr10:27275817-27275818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61851009	chr10:27275829-27275830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61851010	chr10:27275873-27275874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572462853	chr10:27275893-27275894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535001588	chr10:27276006-27276007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557893199	chr10:27276049-27276050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577863180	chr10:27276073-27276074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199650302	chr10:27276101-27276102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563249618	chr10:27276117-27276118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27243000-27294800	Weak transcription	Liver	Liver
2	chr10:27251600-27290000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:27253400-27286400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:27255400-27286800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:27255600-27282600	Weak transcription	Brain Anterior Caudate	brain
6	chr10:27257600-27319000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:27258200-27291200	Weak transcription	Left Ventricle	heart
8	chr10:27258400-27290000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:27269000-27293400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:27270400-27291000	Weak transcription	Adipose Nuclei	Adipose
11	chr10:27272600-27276600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:27273200-27290000	Weak transcription	Primary T cells from cord blood	blood
13	chr10:27276600-27277000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:27276800-27277000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr10:27277000-27284000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:27277000-27291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:27277800-27290200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:27278600-27278800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:27278600-27309200	Weak transcription	HSMM	muscle
20	chr10:27278800-27286600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:27279800-27286200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:27280600-27295000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:27280800-27281200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr10:27280800-27281400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:27280800-27282600	Weak transcription	Psoas Muscle	Psoas
26	chr10:27280800-27290800	Weak transcription	Ovary	ovary
27	chr10:27281400-27286200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:27282600-27283000	Strong transcription	Brain Anterior Caudate	brain
29	chr10:27282600-27283200	Strong transcription	Psoas Muscle	Psoas
30	chr10:27282600-27286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:27283000-27291800	Weak transcription	Brain Anterior Caudate	brain
32	chr10:27283200-27388400	Weak transcription	Psoas Muscle	Psoas
33	chr10:27283400-27284400	Enhancers	NHDF-Ad	bronchial

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