Variant report

Variant	nsv895500
Chromosome Location	chr10:57718804-57806382
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	chr10:57757077..57758579-chr10:57764722..57766777,2	MCF-7	breast:
2	chr10:57747558..57749260-chr10:57921516..57923175,2	MCF-7	breast:
3	chr10:57748719..57749535-chr10:57876195..57877022,4	MCF-7	breast:
4	chr10:57717449..57719826-chr10:58113141..58115181,2	K562	blood:
5	chr10:57757077..57758579-chr10:57764722..57766777,2	MCF-7	breast:
6	chr10:57755531..57757629-chr14:20811264..20812832,2	MCF-7	breast:
7	chr10:57746592..57749487-chr10:57834078..57836757,2	K562	blood:
8	chr10:57714459..57717334-chr10:57718560..57721356,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-6	chr10:57742028-57742255	l_316_chr10:57728954-57743287_hela
2	lnc-MTRNR2L5-6	chr10:57732679-57732829	l_316_chr10:57728954-57743287_hela
3	lnc-MTRNR2L5-6	chr10:57728955-57729220	l_316_chr10:57728954-57743287_hela
4	lnc-MTRNR2L5-6	chr10:57742833-57743287	l_316_chr10:57728954-57743287_hela

No data

Variant related genes	Relation type
ENSG00000129484	chromatin interactions
ENSG00000259001	chromatin interactions

Extended variants
information (count: 511 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12780311	chr10:57726026-57726027	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112212101	chr10:57726099-57726100	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371671488	chr10:57726100-57726101	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187400325	chr10:57726101-57726102	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs59909755	chr10:57726104-57726105	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs61853661	chr10:57726114-57726115	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139076590	chr10:57726119-57726120	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543608747	chr10:57726135-57726136	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs202043103	chr10:57726149-57726150	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192804561	chr10:57726255-57726256	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138370957	chr10:57726257-57726258	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10825687	chr10:57726271-57726272	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs534914680	chr10:57726283-57726284	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539939596	chr10:57726294-57726295	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558196391	chr10:57726315-57726316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112325745	chr10:57726371-57726372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149905403	chr10:57726405-57726406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147578509	chr10:57726431-57726432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553757651	chr10:57726442-57726443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58135915	chr10:57726449-57726450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573587000	chr10:57726462-57726463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546120433	chr10:57726500-57726501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542563276	chr10:57726509-57726510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111796982	chr10:57726528-57726529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559392861	chr10:57726548-57726549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572955408	chr10:57726559-57726560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544893383	chr10:57726563-57726564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144871085	chr10:57726571-57726572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530651548	chr10:57726574-57726575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369136996	chr10:57726594-57726595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533919147	chr10:57728009-57728010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545333864	chr10:57728012-57728013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78513774	chr10:57728038-57728039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191818017	chr10:57728054-57728055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7912650	chr10:57728066-57728067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183987785	chr10:57728070-57728071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141443074	chr10:57728074-57728075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558391874	chr10:57728105-57728106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145094643	chr10:57728122-57728123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74468183	chr10:57728123-57728124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190423068	chr10:57728132-57728133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539032421	chr10:57728140-57728141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558857035	chr10:57728161-57728162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541153669	chr10:57728247-57728248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181697301	chr10:57728283-57728284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538014731	chr10:57728423-57728424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559509830	chr10:57728484-57728485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200669440	chr10:57728504-57728505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201450115	chr10:57728505-57728506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372803503	chr10:57728509-57728510	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57726000-57726200	Active TSS	Hela-S3	cervix
2	chr10:57726000-57726400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:57726200-57726400	Flanking Active TSS	Hela-S3	cervix
4	chr10:57726400-57726600	Enhancers	Hela-S3	cervix
5	chr10:57728000-57728600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:57736400-57737200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:57737000-57737200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:57737200-57738400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:57737200-57738600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:57737400-57737600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:57737600-57738200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:57737800-57739000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:57738200-57738800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr10:57738200-57740000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:57738400-57739000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:57738400-57739200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:57738400-57739200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr10:57738400-57739600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:57738400-57740000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:57738600-57738800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:57738600-57739600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:57738800-57739200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:57738800-57739400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:57738800-57739600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr10:57739000-57739600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:57739000-57739600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr10:57739000-57739600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:57739000-57739600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:57739200-57739400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:57739200-57739600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr10:57739200-57739600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr10:57739400-57739600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:57739600-57739800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:57739600-57739800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:57739600-57739800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:57739600-57740000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:57739600-57740000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr10:57739600-57742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:57748000-57749000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:57768000-57768200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:57768200-57768600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:57771800-57772800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:57772000-57772400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:57788000-57788600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr10:57788200-57788600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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