Variant report

Variant	nsv970583
Chromosome Location	chr7:138125511-138137818
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138126108..138128101-chr7:138131992..138134050,2	K562	blood:
2	chr7:138124409..138126032-chr7:138128520..138130262,2	K562	blood:
3	chr7:138135634..138137493-chr7:138139366..138141323,2	K562	blood:
4	chr7:138135021..138137714-chr7:138143601..138146578,2	K562	blood:
5	chr7:138101034..138103746-chr7:138134339..138136430,2	K562	blood:
6	chr7:138126108..138128101-chr7:138131992..138134050,2	K562	blood:
7	chr7:138132498..138134327-chr7:138141353..138142871,2	K562	blood:
8	chr7:138135302..138137714-chr7:138143601..138146521,3	K562	blood:
9	chr7:138134483..138135008-chr7:138333376..138334299,2	K562	blood:
10	chr7:138126734..138129179-chr7:138153199..138155161,2	K562	blood:
11	chr7:138129342..138131930-chr7:138142283..138144640,2	K562	blood:
12	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214815	chromatin interactions
ENSG00000122779	chromatin interactions

Extended variants
information (count: 448 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555342755	chr7:138125523-138125524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs137918005	chr7:138125524-138125525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186330760	chr7:138125526-138125527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563543490	chr7:138125530-138125531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377418179	chr7:138125551-138125552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577136933	chr7:138125578-138125579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371118576	chr7:138125591-138125592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190780735	chr7:138125619-138125620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145225336	chr7:138125624-138125625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528307891	chr7:138125685-138125686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115555656	chr7:138125692-138125693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561496506	chr7:138125757-138125758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370965450	chr7:138125758-138125759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376103973	chr7:138125767-138125768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570372195	chr7:138125811-138125812	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539396372	chr7:138125818-138125819	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113356118	chr7:138125820-138125821	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181751694	chr7:138125864-138125865	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535281634	chr7:138125871-138125872	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs118075238	chr7:138125887-138125888	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186529657	chr7:138125915-138125916	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537361790	chr7:138125959-138125960	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557605382	chr7:138125990-138125991	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577198588	chr7:138126022-138126023	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12707386	chr7:138126040-138126041	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553094604	chr7:138126066-138126067	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573001020	chr7:138126078-138126079	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541877809	chr7:138126089-138126090	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561746359	chr7:138126112-138126113	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530701625	chr7:138126123-138126124	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191386733	chr7:138126125-138126126	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564389546	chr7:138126140-138126141	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532829708	chr7:138126152-138126153	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546615466	chr7:138126192-138126193	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566429934	chr7:138126193-138126194	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529008152	chr7:138126202-138126203	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549066357	chr7:138126235-138126236	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568584821	chr7:138126247-138126248	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537632554	chr7:138126252-138126253	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370520451	chr7:138126253-138126254	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149138992	chr7:138126263-138126264	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114248986	chr7:138126282-138126283	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539498075	chr7:138126296-138126297	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142258240	chr7:138126304-138126305	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs80281481	chr7:138126319-138126320	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377607103	chr7:138126374-138126375	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572865133	chr7:138126390-138126391	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559357030	chr7:138126397-138126398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541939209	chr7:138126398-138126399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528014392	chr7:138126411-138126412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Low-grade astrocytoma	19016743	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138119400-138125800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:138124400-138126800	Weak transcription	Gastric	stomach
3	chr7:138125800-138127000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:138131400-138132600	Enhancers	K562	blood
5	chr7:138132600-138134200	Weak transcription	K562	blood
6	chr7:138133000-138133200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:138133200-138140000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:138134200-138134400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:138134200-138134400	Enhancers	K562	blood
10	chr7:138134400-138140200	Weak transcription	H9 Cell Line	embryonic stem cell

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