Variant report

Variant	esv3506687
Chromosome Location	chr10:369124-369884
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: 74 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7078132	chr10:369142-369143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375497177	chr10:369143-369144	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72478218	chr10:369144-369145	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113466966	chr10:369146-369147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373238358	chr10:369154-369155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7068453	chr10:369161-369162	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369352381	chr10:369191-369192	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373586284	chr10:369195-369196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376795220	chr10:369197-369198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61837311	chr10:369203-369204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74408962	chr10:369210-369211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112654992	chr10:369240-369241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7098314	chr10:369244-369245	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562331053	chr10:369245-369246	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9794668	chr10:369246-369247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78320112	chr10:369257-369258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78301874	chr10:369259-369260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201640012	chr10:369275-369276	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370938066	chr10:369276-369277	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199959257	chr10:369284-369285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555807411	chr10:369285-369286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112729246	chr10:369289-369290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7098335	chr10:369293-369294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113739583	chr10:369295-369296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373869370	chr10:369306-369307	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368002727	chr10:369308-369309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201192600	chr10:369324-369325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67822570	chr10:369325-369326	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11282252	chr10:369337-369338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192432986	chr10:369338-369339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112885869	chr10:369339-369340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113678810	chr10:369340-369341	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539242936	chr10:369342-369343	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74748076	chr10:369344-369345	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544817382	chr10:369355-369356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370605256	chr10:369357-369358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562444481	chr10:369377-369378	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572634393	chr10:369381-369382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541443722	chr10:369384-369385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111283039	chr10:369391-369392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3132017	chr10:369393-369394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113383180	chr10:369399-369400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113863989	chr10:369402-369403	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564493141	chr10:369403-369404	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs3132018	chr10:369404-369405	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533328225	chr10:369406-369407	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111913456	chr10:369415-369416	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs202191751	chr10:369416-369417	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550303771	chr10:369426-369427	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563723581	chr10:369460-369461	Weak transcription Strong transcription Enhancers Active TSS	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:181 , 50 per page) page: 1 2 3 4

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	chr10:353200-375600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:353200-375600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:354000-369800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:354000-372200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:354400-369800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:355000-375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:355200-372200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:355400-382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:356600-370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:361600-369800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:361600-372200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:361800-369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:361800-372200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr10:363800-382800	Weak transcription	Fetal Brain Male	brain
21	chr10:364000-369400	Weak transcription	NH-A	brain
22	chr10:364000-371000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr10:364200-369600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:364200-369600	Weak transcription	Right Ventricle	heart
25	chr10:364200-372200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:364400-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:364400-369800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:364600-369400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:364600-369600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:364600-369800	Weak transcription	Right Atrium	heart
31	chr10:364600-369800	Weak transcription	HepG2	liver
32	chr10:364600-370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:364600-370200	Weak transcription	NHDF-Ad	bronchial
34	chr10:364600-371200	Weak transcription	Primary T cells from cord blood	blood
35	chr10:364600-372200	Weak transcription	Gastric	stomach
36	chr10:364600-372200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr10:364600-375200	Weak transcription	Esophagus	oesophagus
38	chr10:364600-382400	Weak transcription	Fetal Kidney	kidney
39	chr10:364600-383200	Weak transcription	Fetal Heart	heart
40	chr10:364800-369400	Weak transcription	NHLF	lung
41	chr10:364800-369800	Weak transcription	Placenta	Placenta
42	chr10:364800-369800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr10:364800-370200	Weak transcription	Spleen	Spleen
44	chr10:365000-369600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:365000-369800	Weak transcription	Primary B cells from cord blood	blood
46	chr10:365400-372000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:366200-380800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:367200-369600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:367200-370200	Weak transcription	Brain Germinal Matrix	brain
50	chr10:367400-369400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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