Variant report

Variant	nsv551057
Chromosome Location	chr10:57921163-58063346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:58004930..58006745-chr10:58107564..58110540,2	K562	blood:
2	chr10:57930488..57932712-chr10:57934430..57936445,2	K562	blood:
3	chr10:57927604..57930485-chr10:57936536..57938322,2	K562	blood:
4	chr10:57930488..57932712-chr10:57934430..57936445,2	K562	blood:
5	chr10:57986919..57989468-chr10:57989725..57991743,2	K562	blood:
6	chr10:57986919..57989468-chr10:57989725..57991743,2	K562	blood:
7	chr10:57747558..57749260-chr10:57921516..57923175,2	MCF-7	breast:
8	chr10:57927604..57930485-chr10:57936536..57938322,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-3	chr10:58062672-58062823	NONHSAT013468
2	lnc-MTRNR2L5-3	chr10:58058712-58059214	NONHSAT013468
3	lnc-MTRNR2L5-3	chr10:58058949-58059214	XLOC_008486
4	lnc-MTRNR2L5-3	chr10:58062673-58062823	XLOC_008486

No data

Extended variants
information (count: 423 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150494075	chr10:57923018-57923019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368515686	chr10:57923039-57923040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552733185	chr10:57923046-57923047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572790705	chr10:57923059-57923060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541360707	chr10:57923120-57923121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192816584	chr10:57923140-57923141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145347531	chr10:57923155-57923156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184708577	chr10:57923179-57923180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189030571	chr10:57923183-57923184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75459455	chr10:57923215-57923216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs118042709	chr10:57923258-57923259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559490865	chr10:57923425-57923426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78124285	chr10:57923426-57923427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551280982	chr10:57923447-57923448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141373071	chr10:57923516-57923517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536928422	chr10:57923618-57923619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550397174	chr10:57923635-57923636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11005236	chr10:57923642-57923643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536007273	chr10:57923646-57923647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552983566	chr10:57923647-57923648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138869565	chr10:57923702-57923703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141906684	chr10:57923733-57923734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558508889	chr10:57923765-57923766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578256721	chr10:57923865-57923866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12247492	chr10:57923908-57923909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563920906	chr10:57923971-57923972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2392983	chr10:57923972-57923973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371439107	chr10:57924024-57924025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143665834	chr10:57924045-57924046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148096720	chr10:57924057-57924058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373743018	chr10:57924189-57924190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551391396	chr10:57924190-57924191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79012945	chr10:57924205-57924206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141776920	chr10:57924213-57924214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530751737	chr10:57924227-57924228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550456175	chr10:57924251-57924252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567349786	chr10:57924258-57924259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536402927	chr10:57924279-57924280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75259617	chr10:57924286-57924287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546680358	chr10:57924295-57924296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576629651	chr10:57924343-57924344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566533470	chr10:57924473-57924474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538333332	chr10:57924482-57924483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140497660	chr10:57924489-57924490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2392984	chr10:57924509-57924510	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7922940	chr10:57924525-57924526	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374332462	chr10:57924527-57924528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192620162	chr10:57924576-57924577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574169139	chr10:57924596-57924597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576093858	chr10:57934600-57934601	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Autism	20858243	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57923000-57924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:57924400-57924600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:57934600-57935000	Active TSS	Ovary	ovary
4	chr10:57934600-57935200	Active TSS	Right Ventricle	heart
5	chr10:57934600-57935400	Enhancers	Fetal Heart	heart
6	chr10:57935400-57937400	Weak transcription	Fetal Heart	heart
7	chr10:57937400-57938400	Enhancers	Fetal Brain Female	brain
8	chr10:57937400-57939600	Enhancers	Fetal Heart	heart
9	chr10:57945600-57946000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr10:57945600-57946000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:57945800-57946400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr10:57945800-57946400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr10:57946000-57946200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:57946000-57946400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr10:57946000-57946400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr10:57946200-57946600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr10:57972800-57973000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:57972800-57973000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:58000000-58000600	Active TSS	Hela-S3	cervix
20	chr10:58007800-58008800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:58011400-58011600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:58023200-58023400	Enhancers	Aorta	Aorta
23	chr10:58037200-58037800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:58060800-58061600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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