Variant report

Variant	nsv1015141
Chromosome Location	chr7:109417708-109453898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:

Extended variants
information (count: 405 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:405 , 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	rs534492482	chr7:109419402-109419403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548149043	chr7:109419428-109419429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547286211	chr7:109419437-109419438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60041373	chr7:109419462-109419463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536649836	chr7:109419515-109419516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192665859	chr7:109419521-109419522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556352089	chr7:109419530-109419531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183584093	chr7:109419531-109419532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538788797	chr7:109419544-109419545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376363806	chr7:109419576-109419577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558694150	chr7:109419601-109419602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572195381	chr7:109419614-109419615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4730401	chr7:109419675-109419676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186761967	chr7:109419696-109419697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4730402	chr7:109419697-109419698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574051193	chr7:109419732-109419733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147208766	chr7:109419766-109419767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140302384	chr7:109419772-109419773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554309948	chr7:109419800-109419801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56144981	chr7:109419801-109419802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192764041	chr7:109419802-109419803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565466265	chr7:109419806-109419807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527896279	chr7:109419809-109419810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548062834	chr7:109419824-109419825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546233529	chr7:109419835-109419836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567981590	chr7:109419854-109419855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564199410	chr7:109419912-109419913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536611887	chr7:109419990-109419991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369058585	chr7:109419993-109419994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550130027	chr7:109420046-109420047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560650331	chr7:109420066-109420067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569976183	chr7:109420068-109420069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184618773	chr7:109420081-109420082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3107924	chr7:109420085-109420086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557583965	chr7:109420097-109420098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534513840	chr7:109420102-109420103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554418986	chr7:109420110-109420111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574408293	chr7:109420117-109420118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543386853	chr7:109420126-109420127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144201016	chr7:109420172-109420173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370000298	chr7:109420186-109420187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576803003	chr7:109420195-109420196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189850120	chr7:109420213-109420214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576265398	chr7:109420228-109420229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527858892	chr7:109420246-109420247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541656943	chr7:109420257-109420258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3114818	chr7:109420261-109420262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147809363	chr7:109420272-109420273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141747805	chr7:109420309-109420310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10657206	chr7:109420310-109420311	Weak transcription	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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109419400-109419600	Enhancers	Dnd41	blood
2	chr7:109419600-109420600	Weak transcription	Dnd41	blood
3	chr7:109420600-109422600	Enhancers	Dnd41	blood
4	chr7:109422600-109422800	Flanking Active TSS	Dnd41	blood
5	chr7:109422800-109423000	Enhancers	Dnd41	blood
6	chr7:109423000-109423200	Flanking Active TSS	Dnd41	blood
7	chr7:109423200-109425600	Enhancers	Dnd41	blood
8	chr7:109434600-109435200	ZNF genes & repeats	Dnd41	blood
9	chr7:109435000-109435400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:109435200-109435800	Weak transcription	Dnd41	blood
11	chr7:109435800-109436000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links