Variant report

Variant	esv8688
Chromosome Location	chr10:42394392-42396965
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	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
2	chr10:42396677..42397179-chr2:92268827..92269338,2	MCF-7	breast:

Extended variants
information (count: 825 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535813769	chr10:42394393-42394394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61846523	chr10:42394397-42394398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74202068	chr10:42394398-42394399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74184431	chr10:42394399-42394400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74213908	chr10:42394402-42394403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555864908	chr10:42394403-42394404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575726850	chr10:42394404-42394405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544517094	chr10:42394413-42394414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372729534	chr10:42394422-42394423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578074711	chr10:42394423-42394424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540941689	chr10:42394426-42394427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74187011	chr10:42394433-42394434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61846524	chr10:42394436-42394437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4368470	chr10:42394439-42394440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77135373	chr10:42394442-42394443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560733297	chr10:42394443-42394444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4557123	chr10:42394444-42394445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4300976	chr10:42394468-42394469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529340227	chr10:42394474-42394475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4384921	chr10:42394484-42394485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12049687	chr10:42394489-42394490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543021386	chr10:42394494-42394495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563019667	chr10:42394497-42394498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4449275	chr10:42394504-42394505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531824070	chr10:42394506-42394507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551545147	chr10:42394507-42394508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112680286	chr10:42394508-42394509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12414873	chr10:42394511-42394512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71274791	chr10:42394517-42394518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141299710	chr10:42394522-42394523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74194560	chr10:42394532-42394533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74186533	chr10:42394534-42394535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74211543	chr10:42394535-42394536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147016068	chr10:42394538-42394539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571425051	chr10:42394540-42394541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527469398	chr10:42394548-42394549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4459855	chr10:42394555-42394556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4007585	chr10:42394559-42394560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4481117	chr10:42394560-42394561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199957759	chr10:42394561-42394562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4622869	chr10:42394565-42394566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75181840	chr10:42394566-42394567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567197904	chr10:42394567-42394568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535889092	chr10:42394569-42394570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555728007	chr10:42394571-42394572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61846525	chr10:42394579-42394580	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4626060	chr10:42394581-42394582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61846526	chr10:42394583-42394584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4449277	chr10:42394584-42394585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538728869	chr10:42394588-42394589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20858243	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
2	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
3	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
4	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
7	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
19	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
20	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
26	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
27	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
29	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
30	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
31	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr10:42373600-42400800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr10:42373600-42400800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr10:42373600-42400800	ZNF genes & repeats	Dnd41	blood
36	chr10:42373600-42400800	ZNF genes & repeats	HMEC	breast
37	chr10:42373600-42400800	ZNF genes & repeats	HSMMtube	muscle
38	chr10:42373600-42400800	ZNF genes & repeats	NH-A	brain
39	chr10:42373600-42401200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr10:42373600-42402200	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr10:42373600-42402400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr10:42373600-42402400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr10:42373600-42402400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:42373600-42402400	ZNF genes & repeats	Fetal Stomach	stomach
45	chr10:42373600-42402600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr10:42373600-42402600	ZNF genes & repeats	Liver	Liver
47	chr10:42373600-42402600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr10:42373600-42402600	ZNF genes & repeats	Fetal Brain Male	brain
49	chr10:42373600-42402800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:42373600-42402800	ZNF genes & repeats	HepG2	liver

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