Variant report

Variant	nsv608308
Chromosome Location	chr7:118896639-118969611
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:0)
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	chr7:118910007..118910665-chr7:120194855..120195659,2	MCF-7	breast:
2	chr7:118902822..118906670-chr7:118907606..118911086,3	K562	blood:
3	chr7:118909733..118910708-chr7:145816212..145816735,2	MCF-7	breast:
4	chr7:118917919..118920251-chr7:118925221..118926809,2	K562	blood:
5	chr7:118938874..118939826-chr7:129751362..129752092,2	MCF-7	breast:
6	chr7:118917919..118920251-chr7:118925221..118926809,2	K562	blood:
7	chr7:118902822..118906670-chr7:118907606..118911086,3	K562	blood:
8	chr7:118910028..118911067-chr7:119729751..119730686,4	MCF-7	breast:

No data

Extended variants
information (count: 272 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:272 , 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	rs553693136	chr7:118905231-118905232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545362630	chr7:118905242-118905243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565539140	chr7:118905245-118905246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532811940	chr7:118905260-118905261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549709703	chr7:118905269-118905270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192508184	chr7:118905306-118905307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375827431	chr7:118905309-118905310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528993840	chr7:118905339-118905340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549225849	chr7:118905350-118905351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565864246	chr7:118905396-118905397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184719981	chr7:118905399-118905400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189583889	chr7:118905406-118905407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571469995	chr7:118905427-118905428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537062597	chr7:118905435-118905436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181445466	chr7:118905528-118905529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573844930	chr7:118905564-118905565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77637658	chr7:118905579-118905580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542692551	chr7:118905594-118905595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139864398	chr7:118905688-118905689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573117316	chr7:118905712-118905713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544749784	chr7:118905794-118905795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545556718	chr7:118905803-118905804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565442524	chr7:118905888-118905889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575884407	chr7:118905957-118905958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79980390	chr7:118905962-118905963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563251298	chr7:118906035-118906036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552185839	chr7:118906093-118906094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529031280	chr7:118906125-118906126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs207468481	chr7:118906140-118906141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549113387	chr7:118906164-118906165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184393714	chr7:118906187-118906188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528296584	chr7:118906189-118906190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551509702	chr7:118906258-118906259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10232575	chr7:118906266-118906267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574950606	chr7:118906291-118906292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537351297	chr7:118906312-118906313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550729976	chr7:118906335-118906336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567308127	chr7:118906338-118906339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189081236	chr7:118906352-118906353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34737269	chr7:118906384-118906385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113639572	chr7:118906410-118906411	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77510915	chr7:118906427-118906428	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs538903012	chr7:118906454-118906455	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563866512	chr7:118906470-118906471	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560914183	chr7:118906478-118906479	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs375039439	chr7:118906552-118906553	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529975026	chr7:118906558-118906559	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143313677	chr7:118906563-118906564	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75155426	chr7:118906592-118906593	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181819879	chr7:118906594-118906595	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118905200-118906400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:118906000-118906400	Enhancers	Liver	Liver
3	chr7:118906400-118906600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:118906400-118907200	Flanking Active TSS	Liver	Liver
5	chr7:118906600-118906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:118907200-118907600	Enhancers	Liver	Liver
7	chr7:118907600-118909800	Weak transcription	Liver	Liver
8	chr7:118909800-118910800	Enhancers	Liver	Liver
9	chr7:118910200-118911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:118910200-118911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:118910200-118911400	Enhancers	HMEC	breast
12	chr7:118910200-118911800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:118910600-118911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:118910800-118911200	Enhancers	Lung	lung
15	chr7:118921400-118921800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:118921400-118921800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:118921400-118921800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:118927800-118928400	Enhancers	Fetal Brain Male	brain
19	chr7:118952200-118952800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:118965000-118965200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:118965200-118965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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