Variant report

Variant	nsv1020525
Chromosome Location	chr7:125349375-125392459
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	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
2	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
3	chr7:125391124..125394118-chr7:125397604..125400061,2	K562	blood:
4	chr7:125384743..125387377-chr7:125395816..125398229,2	K562	blood:
5	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
6	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:
7	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
8	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:

No data

Extended variants
information (count: 126 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10271962	chr7:125385824-125385825	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188677372	chr7:125385829-125385830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552788944	chr7:125385867-125385868	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs193297600	chr7:125385897-125385898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565743731	chr7:125385917-125385918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535331776	chr7:125385936-125385937	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528110051	chr7:125385969-125385970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150888168	chr7:125385986-125385987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565631893	chr7:125386000-125386001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185124311	chr7:125386004-125386005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1419606	chr7:125386069-125386070	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576034907	chr7:125386084-125386085	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139348958	chr7:125386116-125386117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571653214	chr7:125386128-125386129	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558324117	chr7:125386136-125386137	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188774513	chr7:125386144-125386145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115015776	chr7:125386184-125386185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570188286	chr7:125387427-125387428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534443089	chr7:125387428-125387429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371572083	chr7:125387505-125387506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143598274	chr7:125387546-125387547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186199923	chr7:125387574-125387575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374471473	chr7:125387626-125387627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1012346	chr7:125387695-125387696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs370822270	chr7:125387704-125387705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191959149	chr7:125387709-125387710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575675866	chr7:125387752-125387753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546243518	chr7:125387754-125387755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558211375	chr7:125387788-125387789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182568614	chr7:125387802-125387803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150992986	chr7:125387832-125387833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186472066	chr7:125387838-125387839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546720091	chr7:125387847-125387848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543366137	chr7:125387894-125387895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115448322	chr7:125387911-125387912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73448067	chr7:125387920-125387921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190463275	chr7:125387930-125387931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533471778	chr7:125387975-125387976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551737370	chr7:125387986-125387987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570152085	chr7:125388004-125388005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528169587	chr7:125388025-125388026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1012347	chr7:125388062-125388063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78219174	chr7:125388136-125388137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568206554	chr7:125388149-125388150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77223799	chr7:125388219-125388220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573780678	chr7:125388248-125388249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183117710	chr7:125388261-125388262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535654013	chr7:125388274-125388275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117582363	chr7:125388286-125388287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74873229	chr7:125388292-125388293	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125385800-125386200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:125387400-125388400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:125388400-125390200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:125390000-125390400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:125390200-125390600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:125390200-125390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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