Variant report

Variant	nsv550715
Chromosome Location	chr10:45878908-45898356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45898269..45903798-chr10:45904032..45907291,6	K562	blood:
2	chr10:45891814..45893692-chr10:45907011..45909582,2	K562	blood:
3	chr10:45873911..45876149-chr10:45876487..45879214,3	K562	blood:

Extended variants
information (count: 857 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs745986	chr10:45878908-45878909	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569757094	chr10:45879000-45879001	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs536701373	chr10:45879011-45879012	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs75262268	chr10:45879058-45879059	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs11239502	chr10:45879060-45879061	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs71494776	chr10:45879062-45879063	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs137974919	chr10:45879077-45879078	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs116330285	chr10:45879081-45879082	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs189926729	chr10:45879084-45879085	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs558672394	chr10:45879087-45879088	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs181144957	chr10:45879131-45879132	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs563683930	chr10:45879175-45879176	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs531041841	chr10:45879196-45879197	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs542744604	chr10:45879279-45879280	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184659554	chr10:45879289-45879290	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528470882	chr10:45879336-45879337	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547750247	chr10:45879349-45879350	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565998518	chr10:45879379-45879380	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571662236	chr10:45879414-45879415	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188975779	chr10:45879537-45879538	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551558101	chr10:45879562-45879563	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569711449	chr10:45879591-45879592	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74386871	chr10:45879606-45879607	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553927150	chr10:45879622-45879623	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555166413	chr10:45879635-45879636	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567288497	chr10:45879706-45879707	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149489405	chr10:45879815-45879816	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574063157	chr10:45879886-45879887	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543373505	chr10:45879937-45879938	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182065110	chr10:45879981-45879982	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143846038	chr10:45879985-45879986	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76502040	chr10:45879988-45879989	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557570628	chr10:45880019-45880020	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs575743585	chr10:45880051-45880052	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs142213734	chr10:45880052-45880053	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs4948671	chr10:45880056-45880057	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs74128483	chr10:45880064-45880065	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540655184	chr10:45880093-45880094	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs565235749	chr10:45880158-45880159	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs186473848	chr10:45880214-45880215	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551378277	chr10:45880224-45880225	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563545317	chr10:45880237-45880238	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530597781	chr10:45880239-45880240	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373052896	chr10:45880244-45880245	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369749993	chr10:45880281-45880282	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375126468	chr10:45880282-45880283	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139292055	chr10:45880360-45880361	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144080623	chr10:45880366-45880367	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546197122	chr10:45880400-45880401	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191810504	chr10:45880419-45880420	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45870600-45891200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:45870800-45880400	Weak transcription	Esophagus	oesophagus
3	chr10:45871400-45904600	Weak transcription	Gastric	stomach
4	chr10:45871600-45894000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:45872200-45883800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:45875800-45891200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:45876000-45899200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:45876400-45879200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
9	chr10:45876600-45879000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:45876600-45879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:45876800-45884000	Strong transcription	Spleen	Spleen
12	chr10:45876800-45884400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr10:45877000-45879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:45877000-45880800	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:45877000-45882800	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:45877000-45891000	Weak transcription	Thymus	Thymus
17	chr10:45877200-45880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:45877400-45879000	Strong transcription	Primary B cells from cord blood	blood
19	chr10:45877600-45880000	Strong transcription	GM12878-XiMat	blood
20	chr10:45877800-45884200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:45878000-45879000	Strong transcription	Fetal Intestine Small	intestine
22	chr10:45878200-45879200	Genic enhancers	Placenta	Placenta
23	chr10:45878800-45880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:45878800-45880200	Enhancers	Adipose Nuclei	Adipose
25	chr10:45878800-45880200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
26	chr10:45878800-45891400	Weak transcription	Pancreas	Pancrea
27	chr10:45879000-45879200	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:45879000-45880200	Genic enhancers	Primary B cells from cord blood	blood
29	chr10:45879000-45880200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:45879000-45883000	Weak transcription	Fetal Intestine Small	intestine
31	chr10:45879200-45879600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:45879200-45880000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
33	chr10:45879200-45891400	Weak transcription	Placenta	Placenta
34	chr10:45879400-45880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:45879600-45879800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr10:45879600-45879800	Enhancers	Lung	lung
37	chr10:45879600-45880200	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:45879800-45881200	Weak transcription	Lung	lung
39	chr10:45880000-45880200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:45880000-45880800	Weak transcription	GM12878-XiMat	blood
41	chr10:45880000-45883600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr10:45880200-45881000	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr10:45880200-45884800	Strong transcription	Primary B cells from cord blood	blood
44	chr10:45880800-45881400	ZNF genes & repeats	GM12878-XiMat	blood
45	chr10:45880800-45883000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr10:45881000-45884400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr10:45881200-45881400	ZNF genes & repeats	Lung	lung
48	chr10:45881400-45882200	Weak transcription	GM12878-XiMat	blood
49	chr10:45882200-45883000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr10:45882200-45883200	ZNF genes & repeats	Lung	lung

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