Variant report

Variant	nsv608357
Chromosome Location	chr7:125861708-125940162
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:4)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
2	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
3	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
4	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-5	chr7:125891205-125891250	NONHSAT123116
2	lnc-ARF5-5	chr7:125886687-125886785	XLOC_006235
3	lnc-ARF5-5	chr7:125873713-125873937	NONHSAT123116
4	lnc-ARF5-5	chr7:125886687-125886768	NONHSAT123116
5	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
6	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
7	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
8	lnc-ARF5-5	chr7:125924175-125924216	XLOC_006235
9	lnc-ARF5-5	chr7:125886687-125886768	XLOC_006235
10	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
11	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
12	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
13	lnc-ARF5-5	chr7:125924175-125924312	XLOC_006235

No data

Variant related genes	Relation type
FBXO8	miRNA target sites
SLC30A7	miRNA target sites
SLC31A2	miRNA target sites
FBXW7	miRNA target sites
FBXO34	miRNA target sites
SLC33A1	miRNA target sites

Extended variants
information (count: 269 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6955163	chr7:125861708-125861709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181591557	chr7:125861727-125861728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369373798	chr7:125861737-125861738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35134483	chr7:125861805-125861806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369669202	chr7:125861835-125861836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186307903	chr7:125861841-125861842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191151739	chr7:125861847-125861848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545318414	chr7:125861934-125861935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7805877	chr7:125861935-125861936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142777789	chr7:125861947-125861948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7805905	chr7:125862004-125862005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150623685	chr7:125862087-125862088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60099197	chr7:125862125-125862126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376390694	chr7:125862126-125862127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182121855	chr7:125862154-125862155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139680524	chr7:125862176-125862177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574244078	chr7:125862193-125862194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7805847	chr7:125862206-125862207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547945078	chr7:125862224-125862225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566248788	chr7:125862237-125862238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73438805	chr7:125862289-125862290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548612082	chr7:125862309-125862310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78223792	chr7:125862401-125862402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145845095	chr7:125862411-125862412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555968018	chr7:125862416-125862417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572899271	chr7:125862449-125862450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140087211	chr7:125862479-125862480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59979818	chr7:125862500-125862501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553884654	chr7:125862532-125862533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186347374	chr7:125862535-125862536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530657024	chr7:125862554-125862555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56177706	chr7:125862557-125862558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555032097	chr7:125862558-125862559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561176689	chr7:125862565-125862566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576490338	chr7:125862580-125862581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60656747	chr7:125862605-125862606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529897331	chr7:125862610-125862611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565259335	chr7:125862638-125862639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546490362	chr7:125862657-125862658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145526207	chr7:125862663-125862664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147593206	chr7:125862664-125862665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559891712	chr7:125862700-125862701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530369518	chr7:125862701-125862702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73438807	chr7:125862734-125862735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568297647	chr7:125862736-125862737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531219953	chr7:125862755-125862756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549720211	chr7:125862781-125862782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143068978	chr7:125862807-125862808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538685989	chr7:125862836-125862837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373580869	chr7:125862845-125862846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125859000-125863800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:125863800-125864000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:125868000-125869000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:125868000-125869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:125868000-125869600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:125868400-125868800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:125868400-125869400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:125871600-125871800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:125893800-125894000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:125893800-125894000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:125901800-125902200	Active TSS	GM12878-XiMat	blood
12	chr7:125904800-125905200	Enhancers	Spleen	Spleen
13	chr7:125905200-125905600	Active TSS	Spleen	Spleen
14	chr7:125915200-125916000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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