Variant report

Variant	nsv1020784
Chromosome Location	chr7:83577402-83687108
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:83605355..83608289-chr7:84651623..84654249,2	K562	blood:
2	chr7:83593569..83594454-chr8:49288164..49289039,2	MCF-7	breast:
3	chr7:83605491..83606239-chr7:83817845..83818667,6	MCF-7	breast:
4	chr7:83580423..83584240-chr7:83586287..83589174,3	K562	blood:
5	chr7:83605282..83606187-chr7:84649300..84650793,4	K562	blood:
6	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
7	chr10:112563517..112564120-chr7:83578072..83579067,2	MCF-7	breast:
8	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
9	chr7:83605077..83606197-chr7:83817893..83818565,3	MCF-7	breast:
10	chr7:83604858..83606132-chr7:84650893..84651808,3	MCF-7	breast:
11	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
12	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
13	chr7:83580423..83584240-chr7:83586287..83589174,3	K562	blood:
14	chr7:83566155..83568449-chr7:83585105..83587262,2	K562	blood:
15	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
16	chr7:83644236..83646821-chr7:83830858..83833552,2	K562	blood:
17	chr7:83605508..83606179-chr7:84652140..84652780,2	MCF-7	breast:
18	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
19	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
20	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
21	chr7:83605262..83606224-chr7:84652102..84653080,8	K562	blood:
22	chr7:83565232..83565801-chr7:83605263..83606020,2	MCF-7	breast:
23	chr7:83566534..83568449-chr7:83584344..83587262,2	K562	blood:

No data

Extended variants
information (count: 4243 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4243 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28671181	chr7:83579221-83579222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566630975	chr7:83579235-83579236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560544056	chr7:83579242-83579243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375608566	chr7:83579269-83579270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564829657	chr7:83579279-83579280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34333198	chr7:83579386-83579387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183307878	chr7:83579456-83579457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558757839	chr7:83579462-83579463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34770090	chr7:83579465-83579466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73180153	chr7:83579473-83579474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538632821	chr7:83579516-83579517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550594985	chr7:83579572-83579573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs797833	chr7:83579575-83579576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142231889	chr7:83579592-83579593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12154732	chr7:83579629-83579630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374847735	chr7:83579648-83579649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536368454	chr7:83579656-83579657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12155350	chr7:83579685-83579686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566525892	chr7:83579707-83579708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187793086	chr7:83579714-83579715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558573361	chr7:83579721-83579722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140239727	chr7:83579769-83579770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192568834	chr7:83579771-83579772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs797832	chr7:83579807-83579808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6953843	chr7:83579839-83579840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6974408	chr7:83579842-83579843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185119707	chr7:83579849-83579850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6953852	chr7:83579852-83579853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67914937	chr7:83579866-83579867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371179804	chr7:83579876-83579877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532050630	chr7:83579905-83579906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145288626	chr7:83579919-83579920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375295968	chr7:83579934-83579935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6955283	chr7:83579992-83579993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527869227	chr7:83579993-83579994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190003492	chr7:83580144-83580145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75011744	chr7:83580153-83580154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564574998	chr7:83580161-83580162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532053108	chr7:83580187-83580188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550560177	chr7:83580216-83580217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146453371	chr7:83580285-83580286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76252270	chr7:83580342-83580343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547970811	chr7:83580360-83580361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192893238	chr7:83580374-83580375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533703011	chr7:83580393-83580394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558726855	chr7:83580427-83580428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114251943	chr7:83580442-83580443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62473885	chr7:83580484-83580485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556068638	chr7:83580549-83580550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115790930	chr7:83580561-83580562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83579200-83590400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:83581400-83581800	Enhancers	Colon Smooth Muscle	Colon
3	chr7:83581800-83588000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:83584600-83584800	Active TSS	NHDF-Ad	bronchial
5	chr7:83584600-83593000	Weak transcription	NHLF	lung
6	chr7:83584800-83588600	Weak transcription	NHDF-Ad	bronchial
7	chr7:83585000-83590200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83585400-83585600	Enhancers	Gastric	stomach
9	chr7:83585400-83586400	Weak transcription	Fetal Lung	lung
10	chr7:83585600-83587400	Weak transcription	Fetal Brain Male	brain
11	chr7:83585600-83597800	Weak transcription	Gastric	stomach
12	chr7:83585800-83586000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:83586000-83588000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:83586000-83590600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:83586200-83586400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:83586400-83586600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:83586400-83586800	Enhancers	Fetal Lung	lung
18	chr7:83586400-83590200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:83586600-83586800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:83586600-83587600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:83586600-83590000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:83586600-83590200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:83586800-83590600	Weak transcription	Fetal Lung	lung
24	chr7:83586800-83592800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:83587400-83588000	Enhancers	Fetal Brain Male	brain
26	chr7:83587400-83588800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:83587600-83589000	Enhancers	Fetal Brain Female	brain
28	chr7:83587600-83589800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:83587600-83593000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:83587800-83590600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:83588000-83588200	Enhancers	Colon Smooth Muscle	Colon
32	chr7:83588000-83588600	Weak transcription	Fetal Brain Male	brain
33	chr7:83588000-83592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:83588000-83593800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:83588200-83588400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:83588200-83590000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:83588200-83605200	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:83588400-83589200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:83588600-83588800	Enhancers	Fetal Brain Male	brain
40	chr7:83588600-83592800	Strong transcription	NHDF-Ad	bronchial
41	chr7:83588800-83590400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:83588800-83590400	Weak transcription	Fetal Kidney	kidney
43	chr7:83588800-83590400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:83588800-83599400	Weak transcription	Fetal Brain Male	brain
45	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:83589000-83590400	Weak transcription	Fetal Brain Female	brain
47	chr7:83589000-83590600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:83589000-83590600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:83589000-83590600	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:83589000-83605000	Weak transcription	Hela-S3	cervix

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