Variant report

Variant	esv2539320
Chromosome Location	chr10:42597932-42598334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61847974	chr10:42597933-42597934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4643029	chr10:42597936-42597937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76754888	chr10:42597937-42597938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28827862	chr10:42597939-42597940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4949047	chr10:42597940-42597941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78224969	chr10:42597941-42597942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61847976	chr10:42597942-42597943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79287171	chr10:42597944-42597945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75359782	chr10:42597952-42597953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55869629	chr10:42597956-42597957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547707024	chr10:42597958-42597959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567527535	chr10:42597960-42597961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56693704	chr10:42597961-42597962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75575625	chr10:42597963-42597964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11812778	chr10:42597968-42597969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34310285	chr10:42597973-42597974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11814414	chr10:42597976-42597977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200446015	chr10:42597977-42597978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530020853	chr10:42597978-42597979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201460310	chr10:42597981-42597982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4478944	chr10:42597989-42597990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57209339	chr10:42597991-42597992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151110154	chr10:42598000-42598001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549974135	chr10:42598006-42598007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78913600	chr10:42598015-42598016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140179683	chr10:42598016-42598017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76563782	chr10:42598017-42598018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145380008	chr10:42598020-42598021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79947508	chr10:42598021-42598022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147673514	chr10:42598023-42598024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76422230	chr10:42598024-42598025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs148708446	chr10:42598025-42598026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142355254	chr10:42598029-42598030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs538712336	chr10:42598030-42598031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs151262085	chr10:42598033-42598034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs76966548	chr10:42598034-42598035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs80322529	chr10:42598035-42598036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79503364	chr10:42598037-42598038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs28880051	chr10:42598038-42598039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144769706	chr10:42598043-42598044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs12354997	chr10:42598044-42598045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558415052	chr10:42598045-42598046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140383822	chr10:42598046-42598047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139916108	chr10:42598049-42598050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77161331	chr10:42598050-42598051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74520528	chr10:42598051-42598052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs80042528	chr10:42598056-42598057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs137918764	chr10:42598059-42598060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76700912	chr10:42598063-42598064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149446253	chr10:42598065-42598066	ZNF genes & repeats	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42596600-42598000	ZNF genes & repeats	Fetal Intestine Large	intestine
2	chr10:42596600-42598600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:42596600-42598600	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr10:42596600-42600200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:42596600-42600200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:42596600-42600200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr10:42596600-42600200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr10:42596600-42600200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:42596600-42600200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:42596600-42600200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
11	chr10:42596600-42600200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr10:42596600-42600200	ZNF genes & repeats	Aorta	Aorta
13	chr10:42596600-42600200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr10:42596600-42600200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr10:42596600-42600200	ZNF genes & repeats	Colonic Mucosa	Colon
16	chr10:42596600-42600200	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr10:42596600-42600200	ZNF genes & repeats	Placenta	Placenta
18	chr10:42596600-42600200	ZNF genes & repeats	Fetal Stomach	stomach
19	chr10:42596600-42600200	ZNF genes & repeats	Small Intestine	intestine
20	chr10:42596600-42600200	ZNF genes & repeats	Stomach Mucosa	stomach
21	chr10:42596600-42600200	ZNF genes & repeats	Spleen	Spleen
22	chr10:42596600-42600200	ZNF genes & repeats	HSMMtube	muscle
23	chr10:42596600-42600200	ZNF genes & repeats	Osteobl	bone
24	chr10:42596600-42600400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:42596600-42600400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr10:42596600-42600400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr10:42596600-42600400	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr10:42596600-42600400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr10:42596600-42600400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr10:42596600-42600400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
35	chr10:42596600-42600400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
36	chr10:42596600-42600400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr10:42596600-42600400	ZNF genes & repeats	GM12878-XiMat	blood
38	chr10:42596600-42600400	ZNF genes & repeats	Hela-S3	cervix
39	chr10:42596600-42600400	ZNF genes & repeats	NH-A	brain
40	chr10:42596600-42600600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr10:42596600-42600600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr10:42596600-42600600	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr10:42596600-42600600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr10:42596600-42600600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:42596600-42600600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
49	chr10:42596600-42600800	ZNF genes & repeats	HUVEC	blood vessel
50	chr10:42596600-42601400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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