Variant report

Variant	esv8452
Chromosome Location	chr10:42392607-42396190
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	chr1:115646794..115647295-chr10:42392648..42393148,2	MCF-7	breast:

Extended variants
information (count: 1134 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148864263	chr10:42392610-42392611	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs200239938	chr10:42392611-42392612	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs143606469	chr10:42392618-42392619	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs151000416	chr10:42392619-42392620	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs535812743	chr10:42392620-42392621	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs555594988	chr10:42392630-42392631	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs1909347	chr10:42392631-42392632	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs56184519	chr10:42392632-42392633	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs74206611	chr10:42392638-42392639	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs1909348	chr10:42392639-42392640	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs55655132	chr10:42392644-42392645	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs141691299	chr10:42392654-42392655	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs150311797	chr10:42392655-42392656	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs138279114	chr10:42392660-42392661	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs34528657	chr10:42392665-42392666	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs149605781	chr10:42392666-42392667	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs569356900	chr10:42392667-42392668	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs144402796	chr10:42392668-42392669	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs141050115	chr10:42392671-42392672	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs578029473	chr10:42392677-42392678	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs143302300	chr10:42392678-42392679	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs540167262	chr10:42392683-42392684	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs147467552	chr10:42392692-42392693	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs139868797	chr10:42392694-42392695	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs142872258	chr10:42392699-42392700	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs1141204	chr10:42392701-42392702	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs139153702	chr10:42392702-42392703	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs74214723	chr10:42392706-42392707	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs144988156	chr10:42392715-42392716	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs141147210	chr10:42392716-42392717	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs144881002	chr10:42392717-42392718	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs553990251	chr10:42392719-42392720	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs113315867	chr10:42392720-42392721	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs140214294	chr10:42392722-42392723	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs143507773	chr10:42392729-42392730	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs148000217	chr10:42392730-42392731	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs141671285	chr10:42392735-42392736	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs150254380	chr10:42392737-42392738	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs139235715	chr10:42392742-42392743	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs143362282	chr10:42392746-42392747	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs573580121	chr10:42392747-42392748	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs147523928	chr10:42392748-42392749	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs139883077	chr10:42392749-42392750	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs149552860	chr10:42392751-42392752	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs144296373	chr10:42392752-42392753	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs148750680	chr10:42392753-42392754	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs142326516	chr10:42392754-42392755	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs146014544	chr10:42392755-42392756	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs139894777	chr10:42392756-42392757	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs78407373	chr10:42392762-42392763	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	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:139 , 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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