Variant report

Variant	nsv967437
Chromosome Location	chr7:104312412-104323208
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	chr7:104306069..104307978-chr7:104312214..104314439,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529586964	chr7:104319627-104319628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199810283	chr7:104319646-104319647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10233987	chr7:104319738-104319739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10279337	chr7:104319788-104319789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73181851	chr7:104319791-104319792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10279339	chr7:104319793-104319794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570515502	chr7:104319797-104319798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539191089	chr7:104319840-104319841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187507236	chr7:104319842-104319843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10279375	chr7:104319876-104319877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs139848229	chr7:104319899-104319900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555251355	chr7:104319918-104319919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142071655	chr7:104319940-104319941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537840416	chr7:104319944-104319945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557900946	chr7:104319956-104319957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578032412	chr7:104319968-104319969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540395300	chr7:104319969-104319970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151130136	chr7:104319992-104319993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529563380	chr7:104320027-104320028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574295219	chr7:104320054-104320055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74993078	chr7:104320086-104320087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191595891	chr7:104320139-104320140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566295981	chr7:104320166-104320167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183881557	chr7:104320240-104320241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189910330	chr7:104320250-104320251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180718537	chr7:104320289-104320290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533016609	chr7:104320298-104320299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6944469	chr7:104320307-104320308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs375027282	chr7:104320311-104320312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56204520	chr7:104320317-104320318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569399230	chr7:104320482-104320483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139203541	chr7:104320484-104320485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149955011	chr7:104320529-104320530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147627266	chr7:104320562-104320563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142145725	chr7:104320563-104320564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558104670	chr7:104320574-104320575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6945225	chr7:104320579-104320580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184500416	chr7:104320582-104320583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553978881	chr7:104320592-104320593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574230054	chr7:104320624-104320625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543232687	chr7:104320654-104320655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556826662	chr7:104320661-104320662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576784800	chr7:104320707-104320708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545399717	chr7:104320737-104320738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4512324	chr7:104320746-104320747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190383903	chr7:104320751-104320752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540275153	chr7:104320753-104320754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367958364	chr7:104320822-104320823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559806716	chr7:104320823-104320824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182061276	chr7:104320837-104320838	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19492091	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104319600-104320800	Enhancers	K562	blood
2	chr7:104320600-104321000	Enhancers	Cortex derived primary cultured neurospheres	brain

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