Variant report

Variant	esv3402068
Chromosome Location	chr7:124825216-124826364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-5	chr7:124826098-124826546	NR_110188
2	lnc-SPAM1-5	chr7:124826098-124826546	NONHSAT123102
3	lnc-SPAM1-5	chr7:124826098-124826546	ENSG00000237764.2

Extended variants
information (count: 35 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562121315	chr7:124825245-124825246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs792640	chr7:124825255-124825256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371326809	chr7:124825283-124825284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188542323	chr7:124825289-124825290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs792641	chr7:124825473-124825474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564083921	chr7:124825520-124825521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191415162	chr7:124825579-124825580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147276717	chr7:124825601-124825602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563310252	chr7:124825629-124825630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10552296	chr7:124825650-124825651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201659153	chr7:124825651-124825652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200070242	chr7:124825652-124825653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557400887	chr7:124825654-124825655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529001413	chr7:124825690-124825691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116679974	chr7:124825776-124825777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575831555	chr7:124825778-124825779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148111664	chr7:124825807-124825808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375977035	chr7:124825808-124825809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183119573	chr7:124825865-124825866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565763701	chr7:124825906-124825907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534643862	chr7:124825911-124825912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545348195	chr7:124825937-124825938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551379819	chr7:124825970-124825971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111342524	chr7:124825971-124825972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117607875	chr7:124826015-124826016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540107834	chr7:124826032-124826033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114521121	chr7:124826066-124826067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565152419	chr7:124826105-124826106	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs576519100	chr7:124826133-124826134	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs186608873	chr7:124826188-124826189	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs191144568	chr7:124826194-124826195	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs140687314	chr7:124826266-124826267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs144648581	chr7:124826336-124826337	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs564120838	chr7:124826340-124826341	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs183694399	chr7:124826345-124826346	Weak transcription	lncRNA	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124822200-124829600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:124822400-124827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:124824800-124825400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:124825400-124832400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:124825800-124826400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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