Variant report

Variant	nsv1032297
Chromosome Location	chr7:109421138-109453970
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: 313 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574929874	chr7:109421179-109421180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6959533	chr7:109421183-109421184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550938967	chr7:109421221-109421222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563973381	chr7:109421263-109421264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186504661	chr7:109421326-109421327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12674380	chr7:109421337-109421338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189030144	chr7:109421391-109421392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180943919	chr7:109421400-109421401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146877209	chr7:109421411-109421412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548229226	chr7:109421465-109421466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561866813	chr7:109421466-109421467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530695209	chr7:109421467-109421468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550483825	chr7:109421507-109421508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140553315	chr7:109421508-109421509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539347910	chr7:109421515-109421516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546954682	chr7:109421595-109421596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371166473	chr7:109421602-109421603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538518815	chr7:109421634-109421635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145628597	chr7:109421661-109421662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10282619	chr7:109421700-109421701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186168602	chr7:109421759-109421760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7797225	chr7:109421760-109421761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557253725	chr7:109421795-109421796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs940503	chr7:109421839-109421840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191614186	chr7:109421881-109421882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559621384	chr7:109421892-109421893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11349080	chr7:109421899-109421900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398086060	chr7:109421904-109421905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182857065	chr7:109421909-109421910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541834680	chr7:109421919-109421920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536064162	chr7:109421946-109421947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186011636	chr7:109421963-109421964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141903127	chr7:109421972-109421973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564116327	chr7:109422020-109422021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7797714	chr7:109422023-109422024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs546870704	chr7:109422041-109422042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539969410	chr7:109422086-109422087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566795564	chr7:109422105-109422106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535406978	chr7:109422112-109422113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548984575	chr7:109422128-109422129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7797470	chr7:109422136-109422137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537543019	chr7:109422158-109422159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557876650	chr7:109422184-109422185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577327402	chr7:109422204-109422205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190815287	chr7:109422242-109422243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183151862	chr7:109422258-109422259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115884845	chr7:109422309-109422310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7784542	chr7:109422362-109422363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189123532	chr7:109422395-109422396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561861598	chr7:109422473-109422474	Enhancers	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:9 , 50 per page) page: 1

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links