Variant report

Variant	esv3349621
Chromosome Location	chr10:45882995-45906254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45496341..45497908-chr10:45904514..45906442,2	K562	blood:
2	chr10:45891814..45893692-chr10:45907011..45909582,2	K562	blood:
3	chr10:45906079..45908146-chr10:45910632..45912489,2	K562	blood:
4	chr10:45898269..45903798-chr10:45904032..45907291,6	K562	blood:
5	chr10:45898269..45903798-chr10:45904032..45907291,6	K562	blood:
6	chr10:45866237..45868097-chr10:45900340..45902647,2	K562	blood:
7	chr10:45906072..45907665-chr10:45916489..45918577,2	K562	blood:

Extended variants
information (count: 1038 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562588457	chr10:45883016-45883017	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555805418	chr10:45883072-45883073	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76527633	chr10:45883078-45883079	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138478060	chr10:45883091-45883092	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560149274	chr10:45883155-45883156	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567726025	chr10:45883159-45883160	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184434116	chr10:45883173-45883174	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374394857	chr10:45883284-45883285	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141659976	chr10:45883306-45883307	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531914885	chr10:45883353-45883354	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550070951	chr10:45883365-45883366	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568560101	chr10:45883372-45883373	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4948999	chr10:45883406-45883407	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547399257	chr10:45883407-45883408	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565729802	chr10:45883420-45883421	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576816333	chr10:45883449-45883450	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11239506	chr10:45883471-45883472	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs558793944	chr10:45883478-45883479	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561667162	chr10:45883493-45883494	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190706620	chr10:45883514-45883515	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182039611	chr10:45883523-45883524	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572577686	chr10:45883529-45883530	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186203332	chr10:45883536-45883537	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190770429	chr10:45883576-45883577	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115846407	chr10:45883592-45883593	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560236574	chr10:45883622-45883623	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181327133	chr10:45883650-45883651	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546211902	chr10:45883663-45883664	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372702082	chr10:45883675-45883676	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369808377	chr10:45883713-45883714	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138378816	chr10:45883725-45883726	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531881087	chr10:45883769-45883770	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112615252	chr10:45883775-45883776	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77006229	chr10:45883805-45883806	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550351324	chr10:45883890-45883891	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75429831	chr10:45883918-45883919	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562103945	chr10:45883920-45883921	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75829731	chr10:45883922-45883923	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185507255	chr10:45883987-45883988	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547486664	chr10:45883996-45883997	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149251697	chr10:45884018-45884019	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572045989	chr10:45884028-45884029	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369528914	chr10:45884093-45884094	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533141964	chr10:45884119-45884120	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146188136	chr10:45884135-45884136	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570747925	chr10:45884142-45884143	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537704158	chr10:45884143-45884144	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371110255	chr10:45884158-45884159	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568257456	chr10:45884160-45884161	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535572403	chr10:45884189-45884190	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45870600-45891200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:45871400-45904600	Weak transcription	Gastric	stomach
3	chr10:45871600-45894000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:45872200-45883800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:45875800-45891200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:45876000-45899200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:45876800-45884000	Strong transcription	Spleen	Spleen
8	chr10:45876800-45884400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr10:45877000-45891000	Weak transcription	Thymus	Thymus
10	chr10:45877800-45884200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:45878800-45891400	Weak transcription	Pancreas	Pancrea
12	chr10:45879000-45883000	Weak transcription	Fetal Intestine Small	intestine
13	chr10:45879200-45891400	Weak transcription	Placenta	Placenta
14	chr10:45880000-45883600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:45880200-45884800	Strong transcription	Primary B cells from cord blood	blood
16	chr10:45880800-45883000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr10:45881000-45884400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr10:45882200-45883000	ZNF genes & repeats	GM12878-XiMat	blood
19	chr10:45882200-45883200	ZNF genes & repeats	Lung	lung
20	chr10:45883000-45884200	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr10:45883000-45884400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr10:45883600-45884600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:45884000-45907400	Weak transcription	Spleen	Spleen
24	chr10:45884200-45884600	Weak transcription	Fetal Intestine Small	intestine
25	chr10:45884200-45891200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:45884400-45885600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr10:45884400-45890800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:45884400-45891000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:45884600-45890800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:45884800-45890800	Weak transcription	Primary B cells from cord blood	blood
31	chr10:45885600-45885800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr10:45885800-45889400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:45889400-45889800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr10:45889800-45891000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr10:45890000-45890600	Weak transcription	Fetal Intestine Small	intestine
36	chr10:45890600-45891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:45890800-45891000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:45890800-45891400	Strong transcription	Primary B cells from cord blood	blood
39	chr10:45890800-45891800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
40	chr10:45891000-45891600	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr10:45891000-45891600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr10:45891000-45891600	Strong transcription	Thymus	Thymus
43	chr10:45891000-45891600	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr10:45891000-45898600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr10:45891200-45891600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr10:45891200-45891600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr10:45891200-45891600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr10:45891200-45891800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:45891200-45892000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:45891400-45891600	ZNF genes & repeats	Pancreas	Pancrea

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