Variant report

Variant	esv3400528
Chromosome Location	chr7:109980566-109982764
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	chr7:109981703..109984403-chr7:109986705..109988683,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561147890	chr7:109981408-109981409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542931677	chr7:109981412-109981413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13227265	chr7:109981436-109981437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200854818	chr7:109981438-109981439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540388044	chr7:109981447-109981448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67110615	chr7:109981473-109981474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563026518	chr7:109981539-109981540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187505804	chr7:109981542-109981543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191133246	chr7:109981618-109981619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370239944	chr7:109981628-109981629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182911451	chr7:109981663-109981664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187157984	chr7:109981689-109981690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34444259	chr7:109981696-109981697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10245281	chr7:109981737-109981738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79231662	chr7:109981760-109981761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372241183	chr7:109981777-109981778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140504014	chr7:109981818-109981819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116672090	chr7:109981819-109981820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149997367	chr7:109981835-109981836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558277734	chr7:109981837-109981838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571124118	chr7:109981849-109981850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540750280	chr7:109981856-109981857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147829975	chr7:109981871-109981872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34431738	chr7:109981882-109981883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539859415	chr7:109981884-109981885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191704033	chr7:109981904-109981905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10260835	chr7:109981924-109981925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551639231	chr7:109981960-109981961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184206553	chr7:109981965-109981966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545644918	chr7:109982004-109982005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187438394	chr7:109982010-109982011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565153702	chr7:109982012-109982013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570051341	chr7:109982014-109982015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10245442	chr7:109982051-109982052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs13240708	chr7:109982060-109982061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529956631	chr7:109982119-109982120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549706832	chr7:109982173-109982174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569785786	chr7:109982180-109982181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141315908	chr7:109982214-109982215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10261192	chr7:109982239-109982240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565560773	chr7:109982251-109982252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193048931	chr7:109982259-109982260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113591103	chr7:109982301-109982302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185802938	chr7:109982303-109982304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534774101	chr7:109982354-109982355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386716804	chr7:109982365-109982366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10248760	chr7:109982366-109982367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565553182	chr7:109982399-109982400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73425222	chr7:109982407-109982408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541428527	chr7:109982425-109982426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109981400-110006200	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links