Variant report

Variant	nsv895502
Chromosome Location	chr10:57747976-58099085
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:31)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:58004930..58006745-chr10:58107564..58110540,2	K562	blood:
2	chr10:57986919..57989468-chr10:57989725..57991743,2	K562	blood:
3	chr10:57748719..57749535-chr10:57876195..57877022,4	MCF-7	breast:
4	chr10:57757077..57758579-chr10:57764722..57766777,2	MCF-7	breast:
5	chr10:57757077..57758579-chr10:57764722..57766777,2	MCF-7	breast:
6	chr10:58084297..58086595-chr10:58097491..58099883,2	K562	blood:
7	chr10:57909018..57911218-chr10:57914611..57917570,2	K562	blood:
8	chr10:58080372..58083285-chr10:58105351..58107829,2	MCF-7	breast:
9	chr10:57824291..57825869-chr10:57827938..57830838,2	MCF-7	breast:
10	chr10:57930488..57932712-chr10:57934430..57936445,2	K562	blood:
11	chr10:57927604..57930485-chr10:57936536..57938322,2	K562	blood:
12	chr10:57859224..57862107-chr10:57868320..57870697,2	K562	blood:
13	chr10:57810927..57812454-chr10:57820002..57821661,2	K562	blood:
14	chr10:57930488..57932712-chr10:57934430..57936445,2	K562	blood:
15	chr10:57755531..57757629-chr14:20811264..20812832,2	MCF-7	breast:
16	chr10:57909018..57911218-chr10:57914611..57917570,2	K562	blood:
17	chr10:58095164..58097377-chr10:58107239..58109004,2	K562	blood:
18	chr10:58084297..58086595-chr10:58097491..58099883,2	K562	blood:
19	chr10:58074309..58076472-chr10:58119158..58121235,2	K562	blood:
20	chr10:57748719..57749535-chr10:57876195..57877022,4	MCF-7	breast:
21	chr10:57859224..57862107-chr10:57868320..57870697,2	K562	blood:
22	chr10:57824291..57825869-chr10:57827938..57830838,2	MCF-7	breast:
23	chr10:57986919..57989468-chr10:57989725..57991743,2	K562	blood:
24	chr10:57810927..57812454-chr10:57820002..57821661,2	K562	blood:
25	chr10:58074675..58076472-chr10:58119735..58122663,2	K562	blood:
26	chr10:58090922..58092444-chr10:58109812..58112754,2	K562	blood:
27	chr10:57747558..57749260-chr10:57921516..57923175,2	MCF-7	breast:
28	chr10:57746592..57749487-chr10:57834078..57836757,2	K562	blood:
29	chr10:57927604..57930485-chr10:57936536..57938322,2	K562	blood:
30	chr10:57746592..57749487-chr10:57834078..57836757,2	K562	blood:
31	chr10:57747558..57749260-chr10:57921516..57923175,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-3	chr10:58072022-58072249	XLOC_008486
2	lnc-ZWINT-1	chr10:57911541-57911756	NONHSAT013466
3	lnc-MTRNR2L5-3	chr10:58062673-58062823	XLOC_008486
4	lnc-ZWINT-1	chr10:57914593-57914731	XLOC_008828
5	lnc-ZWINT-1	chr10:57914592-57914605	FPKM1_group_3344_transcript_1
6	lnc-ZWINT-1	chr10:57911542-57911756	XLOC_008828
7	lnc-ZWINT-1	chr10:57911541-57911756	FPKM1_group_3344_transcript_1
8	lnc-MTRNR2L5-3	chr10:58062672-58062823	NONHSAT013468
9	lnc-ZWINT-1	chr10:57914592-57914731	NONHSAT013466
10	lnc-MTRNR2L5-3	chr10:58072826-58074528	NONHSAT013468
11	lnc-MTRNR2L5-3	chr10:58058949-58059214	XLOC_008486
12	lnc-MTRNR2L5-3	chr10:58072021-58072249	NONHSAT013468
13	lnc-MTRNR2L5-3	chr10:58058712-58059214	NONHSAT013468
14	lnc-MTRNR2L5-3	chr10:58072827-58073281	XLOC_008486

No data

Variant related genes	Relation type
ENSG00000129484	chromatin interactions
ENSG00000122952	chromatin interactions
ENSG00000259001	chromatin interactions
TAF5L	miRNA target sites

Extended variants
information (count: 2303 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2303 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548906987	chr10:57748127-57748128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11005162	chr10:57748156-57748157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs880268	chr10:57748174-57748175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566448946	chr10:57748192-57748193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76012471	chr10:57748207-57748208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79462871	chr10:57748237-57748238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547550433	chr10:57748253-57748254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570958643	chr10:57748316-57748317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539438285	chr10:57748320-57748321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148232175	chr10:57748327-57748328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111817944	chr10:57748375-57748376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370112981	chr10:57748389-57748390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74741448	chr10:57748401-57748402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398096976	chr10:57748405-57748406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569719766	chr10:57748418-57748419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187013902	chr10:57748465-57748466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116164007	chr10:57748495-57748496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191401244	chr10:57748519-57748520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534849356	chr10:57748686-57748687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142685252	chr10:57748763-57748764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370878145	chr10:57748803-57748804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10825706	chr10:57748852-57748853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10825707	chr10:57748865-57748866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563315190	chr10:57748933-57748934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573666249	chr10:57748944-57748945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556349303	chr10:57748972-57748973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147361201	chr10:57748980-57748981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201373563	chr10:57755532-57755533	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75602714	chr10:57755537-57755538	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200478101	chr10:57755538-57755539	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146453744	chr10:57755587-57755588	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200002530	chr10:57755592-57755593	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200595111	chr10:57755638-57755639	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142537988	chr10:57755643-57755644	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9730758	chr10:57755644-57755645	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112385256	chr10:57755646-57755647	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148842796	chr10:57755649-57755650	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113531903	chr10:57755650-57755651	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200384927	chr10:57755764-57755765	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12256283	chr10:57755767-57755768	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377121666	chr10:57755768-57755769	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11005169	chr10:57755771-57755772	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369424227	chr10:57755783-57755784	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188580772	chr10:57755794-57755795	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181156329	chr10:57755796-57755797	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372687072	chr10:57755798-57755799	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548988173	chr10:57755849-57755850	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186149109	chr10:57755850-57755851	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188905673	chr10:57755888-57755889	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375803521	chr10:57755890-57755891	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57748000-57749000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:57768000-57768200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:57768200-57768600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:57771800-57772800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:57772000-57772400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:57788000-57788600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:57788200-57788600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr10:57810600-57811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:57826600-57850600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:57843600-57844800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr10:57843600-57844800	Enhancers	Ovary	ovary
12	chr10:57844800-57846000	Weak transcription	Ovary	ovary
13	chr10:57846000-57846200	Enhancers	Ovary	ovary
14	chr10:57850600-57851400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:57850800-57851400	Enhancers	Liver	Liver
16	chr10:57851400-57855000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:57853400-57854000	Enhancers	HepG2	liver
18	chr10:57855000-57855800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:57855000-57856200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:57855200-57855600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:57855200-57856000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr10:57855400-57856000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:57855400-57856000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:57855600-57855800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:57857200-57858000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr10:57857400-57858000	Enhancers	Brain Germinal Matrix	brain
27	chr10:57857800-57858000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:57897000-57897400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr10:57901200-57901400	Enhancers	GM12878-XiMat	blood
30	chr10:57901400-57901600	Flanking Active TSS	GM12878-XiMat	blood
31	chr10:57901600-57902200	Active TSS	GM12878-XiMat	blood
32	chr10:57902200-57902600	Flanking Active TSS	GM12878-XiMat	blood
33	chr10:57902600-57902800	Enhancers	GM12878-XiMat	blood
34	chr10:57906800-57907000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:57914600-57915200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr10:57915000-57915400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr10:57915000-57915400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:57920200-57920600	Enhancers	Brain Germinal Matrix	brain
39	chr10:57923000-57924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:57924400-57924600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:57934600-57935000	Active TSS	Ovary	ovary
42	chr10:57934600-57935200	Active TSS	Right Ventricle	heart
43	chr10:57934600-57935400	Enhancers	Fetal Heart	heart
44	chr10:57935400-57937400	Weak transcription	Fetal Heart	heart
45	chr10:57937400-57938400	Enhancers	Fetal Brain Female	brain
46	chr10:57937400-57939600	Enhancers	Fetal Heart	heart
47	chr10:57945600-57946000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr10:57945600-57946000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr10:57945800-57946400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:57945800-57946400	Active TSS	HUES6 Cell Line	embryonic stem cell

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