Variant report

Variant	esv3324238
Chromosome Location	chr10:42364681-42364795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180896562	chr10:42364681-42364682	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs62647419	chr10:42364683-42364684	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs535861103	chr10:42364685-42364686	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs555789651	chr10:42364688-42364689	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs374344060	chr10:42364689-42364690	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs200049347	chr10:42364691-42364692	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs375829459	chr10:42364693-42364694	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs111216932	chr10:42364694-42364695	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs370418525	chr10:42364695-42364696	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs569421179	chr10:42364698-42364699	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs538320121	chr10:42364704-42364705	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs557702617	chr10:42364708-42364709	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs9731899	chr10:42364709-42364710	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs11266184	chr10:42364711-42364712	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs554035561	chr10:42364713-42364714	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs62638952	chr10:42364715-42364716	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs573556950	chr10:42364718-42364719	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs200421630	chr10:42364725-42364726	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs542252898	chr10:42364730-42364731	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs374594702	chr10:42364733-42364734	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs201692432	chr10:42364734-42364735	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs202159105	chr10:42364735-42364736	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs562137504	chr10:42364740-42364741	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs9731908	chr10:42364748-42364749	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs545107061	chr10:42364752-42364753	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs9731122	chr10:42364759-42364760	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs533578238	chr10:42364760-42364761	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs189317420	chr10:42364766-42364767	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs111216895	chr10:42364769-42364770	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42354800-42366400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:42354800-42367200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr10:42354800-42367200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr10:42354800-42367200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
5	chr10:42354800-42367400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr10:42354800-42367400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr10:42354800-42367400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr10:42354800-42367400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr10:42354800-42368000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:42354800-42368000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr10:42355000-42365400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr10:42355000-42365400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:42355000-42365400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr10:42355000-42365600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr10:42355000-42365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr10:42355000-42365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:42355000-42365600	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr10:42355000-42365600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr10:42355000-42365600	ZNF genes & repeats	Aorta	Aorta
20	chr10:42355000-42365600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr10:42355000-42365600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr10:42355000-42365600	ZNF genes & repeats	Stomach Mucosa	stomach
23	chr10:42355000-42365600	ZNF genes & repeats	GM12878-XiMat	blood
24	chr10:42355000-42365600	ZNF genes & repeats	HepG2	liver
25	chr10:42355000-42365600	ZNF genes & repeats	HSMMtube	muscle
26	chr10:42355000-42365600	ZNF genes & repeats	HUVEC	blood vessel
27	chr10:42355000-42365800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr10:42355000-42365800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr10:42355000-42365800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:42355000-42365800	ZNF genes & repeats	Fetal Heart	heart
31	chr10:42355000-42365800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr10:42355000-42365800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr10:42355000-42365800	ZNF genes & repeats	K562	blood
34	chr10:42355000-42365800	ZNF genes & repeats	NH-A	brain
35	chr10:42355000-42366000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:42355000-42366000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:42355000-42366000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:42355000-42366000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr10:42355000-42366000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:42355000-42366000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr10:42355000-42366000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
42	chr10:42355000-42366000	ZNF genes & repeats	Brain Angular Gyrus	brain
43	chr10:42355000-42366000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr10:42355000-42366000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr10:42355000-42366000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:42355000-42366000	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr10:42355000-42366000	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr10:42355000-42366000	ZNF genes & repeats	Pancreas	Pancrea
49	chr10:42355000-42366000	ZNF genes & repeats	A549	lung
50	chr10:42355000-42366200	ZNF genes & repeats	Primary T cells from cord blood	blood

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