Variant report

Variant	nsv1040362
Chromosome Location	chr10:56577036-56622686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:56598785..56601451-chr10:56605100..56606903,2	K562	blood:
2	chr10:56598785..56601451-chr10:56605100..56606903,2	K562	blood:
3	chr10:56621759..56622362-chr4:187295967..187296841,2	MCF-7	breast:

Extended variants
information (count: 497 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569223319	chr10:56577044-56577045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78410015	chr10:56577059-56577060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142119121	chr10:56577088-56577089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538442431	chr10:56577100-56577101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192800833	chr10:56577120-56577121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540068513	chr10:56577133-56577134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553634921	chr10:56577231-56577232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554057704	chr10:56577255-56577256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577083856	chr10:56577279-56577280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545455551	chr10:56577289-56577290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55925661	chr10:56577341-56577342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535335377	chr10:56586800-56586801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558528282	chr10:56586808-56586809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571647436	chr10:56586811-56586812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537476513	chr10:56586831-56586832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147243997	chr10:56586846-56586847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374991921	chr10:56586878-56586879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570823833	chr10:56586895-56586896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138683598	chr10:56586901-56586902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553662159	chr10:56586946-56586947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73254004	chr10:56586955-56586956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77650240	chr10:56586964-56586965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181876021	chr10:56586966-56586967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544902193	chr10:56586980-56586981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564861795	chr10:56586991-56586992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115002093	chr10:56594445-56594446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553942508	chr10:56594473-56594474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561401250	chr10:56594484-56594485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180974012	chr10:56594511-56594512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573440018	chr10:56594536-56594537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545638076	chr10:56594573-56594574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565524619	chr10:56594585-56594586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531117947	chr10:56594593-56594594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530193484	chr10:56594648-56594649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148406726	chr10:56594701-56594702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75847919	chr10:56594733-56594734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546922668	chr10:56594897-56594898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560147487	chr10:56594916-56594917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560748970	chr10:56594925-56594926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185963425	chr10:56594954-56594955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546676216	chr10:56595012-56595013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566642080	chr10:56595043-56595044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532148376	chr10:56595046-56595047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142501287	chr10:56595063-56595064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113247071	chr10:56595078-56595079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149856373	chr10:56595161-56595162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537740576	chr10:56595172-56595173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554875665	chr10:56595180-56595181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369437108	chr10:56595199-56595200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10430482	chr10:56595219-56595220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56576400-56577400	Enhancers	NHEK	skin
2	chr10:56586800-56587000	Enhancers	Pancreas	Pancrea
3	chr10:56594400-56595400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:56594600-56595400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:56600800-56601400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:56601400-56606200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:56602200-56603200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:56602600-56603200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:56602600-56603400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:56602600-56603800	Enhancers	Fetal Brain Female	brain
11	chr10:56602600-56604400	Enhancers	Fetal Heart	heart
12	chr10:56602800-56603200	Active TSS	Left Ventricle	heart
13	chr10:56602800-56603800	Active TSS	Right Ventricle	heart
14	chr10:56603200-56606400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:56603400-56606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:56606200-56606600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:56606400-56606800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:56606800-56607800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:56611400-56611600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:56611600-56615000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:56613600-56614000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:56615000-56615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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