Variant report

Variant	nsv889186
Chromosome Location	chr7:125878744-125975251
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:9)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
2	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
3	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
4	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
5	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
6	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
7	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
8	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
9	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-5	chr7:125886687-125886768	XLOC_006235
2	lnc-ARF5-5	chr7:125924175-125924216	XLOC_006235
3	lnc-ARF5-5	chr7:125886687-125886785	XLOC_006235
4	lnc-ARF5-5	chr7:125891205-125891250	NONHSAT123116
5	lnc-ARF5-5	chr7:125924175-125924312	XLOC_006235
6	lnc-ARF5-5	chr7:125886687-125886768	NONHSAT123116

No data

Variant related genes	Relation type
SLC33A1	miRNA target sites
FBXW7	miRNA target sites

Extended variants
information (count: 174 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568625030	chr7:125886708-125886709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs529478772	chr7:125886751-125886752	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs551320483	chr7:125886768-125886769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs546310629	chr7:125893818-125893819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188692977	chr7:125893830-125893831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529118210	chr7:125893837-125893838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550477972	chr7:125893857-125893858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569178227	chr7:125893901-125893902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181596863	chr7:125893915-125893916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557989335	chr7:125893920-125893921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566897489	chr7:125893927-125893928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534152221	chr7:125893946-125893947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186321854	chr7:125893948-125893949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191134178	chr7:125893977-125893978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549815024	chr7:125901857-125901858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571528237	chr7:125901859-125901860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6960672	chr7:125901871-125901872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577226814	chr7:125901909-125901910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554077906	chr7:125901937-125901938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566338621	chr7:125901969-125901970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191848202	chr7:125901974-125901975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548035524	chr7:125902003-125902004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533596771	chr7:125902024-125902025	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11766257	chr7:125902025-125902026	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558517448	chr7:125902052-125902053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs146956345	chr7:125902176-125902177	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182824529	chr7:125902179-125902180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79353532	chr7:125904803-125904804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535058561	chr7:125904804-125904805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142042009	chr7:125904823-125904824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371140969	chr7:125904840-125904841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574732713	chr7:125904887-125904888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541983179	chr7:125904963-125904964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73451625	chr7:125905012-125905013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116983587	chr7:125905029-125905030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181535358	chr7:125905040-125905041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77857241	chr7:125905041-125905042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs337909	chr7:125905053-125905054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540880285	chr7:125905082-125905083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535652599	chr7:125905084-125905085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559089440	chr7:125905091-125905092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529663602	chr7:125905093-125905094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547895640	chr7:125905094-125905095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555970459	chr7:125905148-125905149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185756677	chr7:125905154-125905155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs207468576	chr7:125905166-125905167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs337910	chr7:125905191-125905192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140967678	chr7:125905192-125905193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150430665	chr7:125905221-125905222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534619757	chr7:125905262-125905263	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125893800-125894000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:125893800-125894000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:125901800-125902200	Active TSS	GM12878-XiMat	blood
4	chr7:125904800-125905200	Enhancers	Spleen	Spleen
5	chr7:125905200-125905600	Active TSS	Spleen	Spleen
6	chr7:125915200-125916000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:125963800-125964000	Enhancers	Left Ventricle	heart
8	chr7:125966400-125967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:125967000-125967400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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