Variant report

Variant	esv12383
Chromosome Location	chr10:367481-369597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:368780..371728-chr10:384825..386792,2	MCF-7	breast:

Extended variants
information (count: 163 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3132014	chr10:367482-367483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562204179	chr10:367483-367484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139591058	chr10:367487-367488	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574222452	chr10:367488-367489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564603985	chr10:367491-367492	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377171868	chr10:367494-367495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200572236	chr10:367495-367496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533442138	chr10:367501-367502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550269377	chr10:367509-367510	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569086445	chr10:367513-367514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537996236	chr10:367520-367521	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375577112	chr10:367525-367526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11251713	chr10:367529-367530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201345834	chr10:367531-367532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61837310	chr10:367544-367545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112340449	chr10:367562-367563	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113829466	chr10:367563-367564	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80210391	chr10:367574-367575	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7069099	chr10:367578-367579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78002308	chr10:367580-367581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75126669	chr10:367591-367592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35696712	chr10:367593-367594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34151827	chr10:367623-367624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3125041	chr10:367627-367628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11492937	chr10:367635-367636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3132015	chr10:367642-367643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75231223	chr10:367656-367657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77049459	chr10:367672-367673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3123250	chr10:367676-367677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75095237	chr10:367678-367679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11492938	chr10:367684-367685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74203700	chr10:367689-367690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11492939	chr10:367691-367692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3132016	chr10:367705-367706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71374354	chr10:367716-367717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71492964	chr10:367721-367722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34394505	chr10:367725-367726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67087772	chr10:367736-367737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67552899	chr10:367738-367739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34272670	chr10:367740-367741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs68007563	chr10:367754-367755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576683228	chr10:367765-367766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75226729	chr10:367774-367775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs33984012	chr10:367789-367790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34483088	chr10:367819-367820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139662947	chr10:367852-367853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74417053	chr10:367901-367902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76455874	chr10:367950-367951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140131762	chr10:367999-368000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373792121	chr10:368244-368245	Weak transcription	n/a	n/a	Overlapped CNVs	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	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:329000-375200	Weak transcription	Psoas Muscle	Psoas
2	chr10:331400-375400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:342400-375600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:344200-369400	Weak transcription	A549	lung
5	chr10:344200-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:349200-379400	Weak transcription	Thymus	Thymus
7	chr10:351400-367600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:353200-375600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:353200-375600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:354000-369800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:354000-372200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:354400-369800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:355000-375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:355200-372200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:355400-382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:356600-370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:361600-369800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:361600-372200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:361800-369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:361800-372200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:363800-369000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr10:363800-382800	Weak transcription	Fetal Brain Male	brain
23	chr10:364000-369400	Weak transcription	NH-A	brain
24	chr10:364000-371000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:364200-369600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:364200-369600	Weak transcription	Right Ventricle	heart
27	chr10:364200-372200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:364400-367600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr10:364400-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:364400-369800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:364600-369400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr10:364600-369600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:364600-369800	Weak transcription	Right Atrium	heart
34	chr10:364600-369800	Weak transcription	HepG2	liver
35	chr10:364600-370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:364600-370200	Weak transcription	NHDF-Ad	bronchial
37	chr10:364600-371200	Weak transcription	Primary T cells from cord blood	blood
38	chr10:364600-372200	Weak transcription	Gastric	stomach
39	chr10:364600-372200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:364600-375200	Weak transcription	Esophagus	oesophagus
41	chr10:364600-382400	Weak transcription	Fetal Kidney	kidney
42	chr10:364600-383200	Weak transcription	Fetal Heart	heart
43	chr10:364800-369400	Weak transcription	NHLF	lung
44	chr10:364800-369800	Weak transcription	Placenta	Placenta
45	chr10:364800-369800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:364800-370200	Weak transcription	Spleen	Spleen
47	chr10:365000-369600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr10:365000-369800	Weak transcription	Primary B cells from cord blood	blood
49	chr10:365400-372000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:366200-367600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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