Variant report

Variant	esv2652243
Chromosome Location	chr10:42396992-42397138
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: 44 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111659265	chr10:42396993-42396994	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs538634008	chr10:42396994-42396995	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs558669659	chr10:42396997-42396998	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs61847586	chr10:42396998-42396999	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs572206073	chr10:42396999-42397000	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs34688100	chr10:42397001-42397002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61847587	chr10:42397002-42397003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541081676	chr10:42397006-42397007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71259739	chr10:42397010-42397011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73251678	chr10:42397011-42397012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554477956	chr10:42397012-42397013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574542630	chr10:42397014-42397015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74805040	chr10:42397018-42397019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75317200	chr10:42397029-42397030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543374324	chr10:42397030-42397031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74186654	chr10:42397033-42397034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71259740	chr10:42397034-42397035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563577743	chr10:42397036-42397037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74201069	chr10:42397038-42397039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71263240	chr10:42397043-42397044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532178072	chr10:42397045-42397046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78890668	chr10:42397049-42397050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77380160	chr10:42397053-42397054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78034634	chr10:42397055-42397056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74762289	chr10:42397056-42397057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559536140	chr10:42397060-42397061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528197128	chr10:42397065-42397066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61847588	chr10:42397068-42397069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201457748	chr10:42397082-42397083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75337063	chr10:42397083-42397084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61847589	chr10:42397092-42397093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548264160	chr10:42397100-42397101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200723854	chr10:42397101-42397102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75564016	chr10:42397102-42397103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371732929	chr10:42397107-42397108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567775652	chr10:42397117-42397118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530284235	chr10:42397118-42397119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61847590	chr10:42397119-42397120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550233055	chr10:42397121-42397122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61847591	chr10:42397123-42397124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570321589	chr10:42397128-42397129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61847592	chr10:42397132-42397133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538696444	chr10:42397133-42397134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552159471	chr10:42397135-42397136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:127 , 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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