Variant report

Variant	nsv517608
Chromosome Location	chr7:140195463-140201453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:
2	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
3	chr7:140177918..140179517-chr7:140199453..140201506,2	MCF-7	breast:
4	chr7:140177655..140180336-chr7:140200057..140202817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133606	chromatin interactions

Extended variants
information (count: 257 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:257 , 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	rs12534545	chr7:140195463-140195464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	disease
2	rs554723629	chr7:140195470-140195471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573139668	chr7:140195474-140195475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140993256	chr7:140195501-140195502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559349995	chr7:140195552-140195553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370263845	chr7:140195563-140195564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112041748	chr7:140195568-140195569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532892367	chr7:140195572-140195573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191102925	chr7:140195584-140195585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563159651	chr7:140195737-140195738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113249372	chr7:140195767-140195768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80109830	chr7:140195776-140195777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74690505	chr7:140195778-140195779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530810570	chr7:140195814-140195815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144601373	chr7:140195845-140195846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72528913	chr7:140195846-140195847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71173203	chr7:140195854-140195855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10247166	chr7:140195855-140195856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116040904	chr7:140195860-140195861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114278782	chr7:140195865-140195866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549331894	chr7:140195893-140195894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112372511	chr7:140195927-140195928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567459522	chr7:140195977-140195978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11980241	chr7:140196019-140196020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546819709	chr7:140196077-140196078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571674994	chr7:140196090-140196091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538774481	chr7:140196127-140196128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28521710	chr7:140196172-140196173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199728275	chr7:140196180-140196181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550829687	chr7:140196182-140196183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535847392	chr7:140196213-140196214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367558188	chr7:140196230-140196231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557298964	chr7:140196234-140196235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200515969	chr7:140196240-140196241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538933293	chr7:140196255-140196256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200302713	chr7:140196256-140196257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200769100	chr7:140196257-140196258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60075764	chr7:140196259-140196260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189535137	chr7:140196314-140196315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573202420	chr7:140196384-140196385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57352707	chr7:140196385-140196386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13311547	chr7:140196387-140196388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181507570	chr7:140196395-140196396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201462482	chr7:140196412-140196413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56796233	chr7:140196415-140196416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186459138	chr7:140196434-140196435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190101122	chr7:140196435-140196436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571024663	chr7:140196439-140196440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181625252	chr7:140196448-140196449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186286899	chr7:140196484-140196485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140179800-140198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140185400-140197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:140185800-140198000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:140192200-140206800	Weak transcription	Right Atrium	heart
5	chr7:140193000-140206600	Weak transcription	Colonic Mucosa	Colon
6	chr7:140193600-140198000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:140194600-140195600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:140194800-140195600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:140195400-140195800	Enhancers	Gastric	stomach
10	chr7:140195400-140196000	Enhancers	K562	blood
11	chr7:140196000-140201800	Weak transcription	K562	blood
12	chr7:140197000-140197400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:140197200-140197400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:140197800-140198200	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:140198000-140198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:140198000-140198200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:140198000-140198400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:140198000-140198400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:140198200-140199400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:140198200-140202000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:140198400-140202000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:140198400-140206400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:140200000-140202000	Weak transcription	Duodenum Mucosa	Duodenum

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