Variant report

Variant	esv3328241
Chromosome Location	chr7:124778516-124780414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-4	chr7:124778627-124778713	ENSG00000224897
2	lnc-SPAM1-4	chr7:124778627-124778713	ENSG00000224897
3	lnc-SPAM1-4	chr7:124778627-124778713	ENSG00000224897
4	lnc-SPAM1-4	chr7:124778627-124778715	NONHSAT123098

Variant related genes	Relation type
ELAC2	miRNA target sites
HIBADH	miRNA target sites
NOTCH1	miRNA target sites

Extended variants
information (count: 81 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567725223	chr7:124778557-124778558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542473454	chr7:124778558-124778559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188664384	chr7:124778597-124778598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190089760	chr7:124778635-124778636	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs182673933	chr7:124778644-124778645	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs114470513	chr7:124778732-124778733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186607052	chr7:124778739-124778740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191390585	chr7:124778810-124778811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139833194	chr7:124778939-124778940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560897889	chr7:124778967-124778968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529730000	chr7:124779023-124779024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369864469	chr7:124779033-124779034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145368218	chr7:124779120-124779121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377391703	chr7:124779202-124779203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74909097	chr7:124779213-124779214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61492723	chr7:124779214-124779215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13245025	chr7:124779224-124779225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10249958	chr7:124779228-124779229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs702434	chr7:124779245-124779246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371215113	chr7:124779252-124779253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369601439	chr7:124779257-124779258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375473631	chr7:124779259-124779260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570881796	chr7:124779260-124779261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58927158	chr7:124779264-124779265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79760394	chr7:124779269-124779270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10249978	chr7:124779273-124779274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs702433	chr7:124779281-124779282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10250161	chr7:124779294-124779295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13245059	chr7:124779299-124779300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193264097	chr7:124779301-124779302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184989866	chr7:124779305-124779306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13245062	chr7:124779308-124779309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181251969	chr7:124779313-124779314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10252930	chr7:124779316-124779317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs702432	chr7:124779327-124779328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs702431	chr7:124779337-124779338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs702430	chr7:124779350-124779351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs702429	chr7:124779362-124779363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12706642	chr7:124779369-124779370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12706643	chr7:124779374-124779375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11319784	chr7:124779380-124779381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560841641	chr7:124779400-124779401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547885214	chr7:124779422-124779423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567811535	chr7:124779424-124779425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540264324	chr7:124779477-124779478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117630647	chr7:124779510-124779511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528842841	chr7:124779517-124779518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551791551	chr7:124779552-124779553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565437582	chr7:124779568-124779569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565838629	chr7:124779579-124779580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124778000-124786800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links