Variant report

Variant	nsv960390
Chromosome Location	chr17:60392201-60397071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:60392540-60392597	ProgFib	skin:	n/a	n/a
2	POLR2A	chr17:60395053-60395118	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60387371..60389325-chr17:60391804..60394700,2	MCF-7	breast:
2	chr17:60387132..60388706-chr17:60393027..60395897,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC053481.1-4	chr17:60393130-60394961	NONHSAT055150
2	lnc-AC053481.1-4	chr17:60394618-60394961	NONHSAT055151

No data

Variant related genes	Relation type
ENSG00000242123	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556394926	chr17:60392555-60392556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574241391	chr17:60393314-60393315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs141672293	chr17:60393337-60393338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs75132320	chr17:60393376-60393377	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs528586801	chr17:60393400-60393401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs77579432	chr17:60393434-60393435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs115432314	chr17:60393453-60393454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532987587	chr17:60393474-60393475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs11653830	chr17:60393507-60393508	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147175985	chr17:60393528-60393529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs529156166	chr17:60393553-60393554	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548702895	chr17:60393582-60393583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191462558	chr17:60393589-60393590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534322977	chr17:60393602-60393603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs9911918	chr17:60393618-60393619	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181881923	chr17:60393679-60393680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs537657933	chr17:60393686-60393687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs11871644	chr17:60393729-60393730	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574254195	chr17:60393730-60393731	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs117658374	chr17:60393740-60393741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs34602960	chr17:60393825-60393826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs141980456	chr17:60393826-60393827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs150698248	chr17:60393827-60393828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs375086047	chr17:60393828-60393829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs35228494	chr17:60393839-60393840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs74706193	chr17:60393872-60393873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535509381	chr17:60393890-60393891	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs565071493	chr17:60393893-60393894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs186087122	chr17:60393896-60393897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs371477518	chr17:60393900-60393901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs563447570	chr17:60393943-60393944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs529180973	chr17:60393999-60394000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs201254680	chr17:60394001-60394002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs56017700	chr17:60394002-60394003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs71155921	chr17:60394005-60394006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs12938086	chr17:60394006-60394007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs561484926	chr17:60394065-60394066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs12938371	chr17:60394075-60394076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs549309028	chr17:60394094-60394095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs559368421	chr17:60394121-60394122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs575006097	chr17:60394211-60394212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs556785969	chr17:60394229-60394230	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs528129533	chr17:60394299-60394300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs374787944	chr17:60394361-60394362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs190889043	chr17:60394443-60394444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs183394193	chr17:60394446-60394447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs140914495	chr17:60394447-60394448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs186611367	chr17:60394518-60394519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs563527475	chr17:60394519-60394520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs144875584	chr17:60394545-60394546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60396000-60396400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:60396400-60397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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