Variant report

Variant	esv3490455
Chromosome Location	chr18:11506766-11511945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35G4-1	chr18:11506756-11506979	XLOC_012626
2	lnc-SLC35G4-1	chr18:11506756-11506982	XLOC_012626
3	lnc-SLC35G4-1	chr18:11506756-11506982	ENSG00000267252.1
4	lnc-SLC35G4-1	chr18:11506756-11506967	ENSG00000267252.1
5	lnc-SLC35G4-1	chr18:11506756-11506946	NONHSAT057308
6	lnc-SLC35G4-1	chr18:11506756-11506979	XLOC_012626
7	lnc-SLC35G4-1	chr18:11506755-11506982	NONHSAT057314
8	lnc-SLC35G4-1	chr18:11506756-11506982	XLOC_012626
9	lnc-SLC35G4-1	chr18:11506756-11506975	ENSG00000267252.1

No data

Variant related genes	Relation type
NUP153	miRNA target sites
TMF1	miRNA target sites

Extended variants
information (count: 209 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566050451	chr18:11506785-11506786	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs149241806	chr18:11506789-11506790	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs555004866	chr18:11506805-11506806	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573692599	chr18:11506814-11506815	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559850763	chr18:11506829-11506830	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs570156665	chr18:11506838-11506839	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2298533	chr18:11506915-11506916	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185751790	chr18:11506918-11506919	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs145195263	chr18:11506984-11506985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541306687	chr18:11506986-11506987	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs3819088	chr18:11507108-11507109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs137890182	chr18:11507120-11507121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541570967	chr18:11507123-11507124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563349375	chr18:11507135-11507136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530517765	chr18:11507147-11507148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546013940	chr18:11507180-11507181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564251612	chr18:11507188-11507189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4797546	chr18:11507199-11507200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573303144	chr18:11507200-11507201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114970495	chr18:11507279-11507280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530054582	chr18:11507282-11507283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7240498	chr18:11507292-11507293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563254739	chr18:11507336-11507337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4796930	chr18:11507366-11507367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559369544	chr18:11507375-11507376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67658268	chr18:11507376-11507377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142633434	chr18:11507398-11507399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570685425	chr18:11507421-11507422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180900263	chr18:11507424-11507425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542285397	chr18:11507428-11507429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113947041	chr18:11507429-11507430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574098443	chr18:11507433-11507434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146037740	chr18:11507434-11507435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556673837	chr18:11507441-11507442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372557441	chr18:11507465-11507466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368615972	chr18:11507487-11507488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564286759	chr18:11507493-11507494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7242240	chr18:11507517-11507518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148241237	chr18:11507519-11507520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528239708	chr18:11507522-11507523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7241394	chr18:11507558-11507559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562007160	chr18:11507574-11507575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529162862	chr18:11507595-11507596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113764016	chr18:11507603-11507604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563515336	chr18:11507624-11507625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531058161	chr18:11507648-11507649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113543305	chr18:11507649-11507650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186319956	chr18:11507652-11507653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150848890	chr18:11507791-11507792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374495373	chr18:11507795-11507796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11502600-11513200	Weak transcription	NHDF-Ad	bronchial
2	chr18:11504800-11507000	Enhancers	Fetal Thymus	thymus
3	chr18:11504800-11507000	Enhancers	Thymus	Thymus
4	chr18:11504800-11507200	Enhancers	Dnd41	blood
5	chr18:11506400-11507400	Enhancers	Hela-S3	cervix
6	chr18:11506600-11506800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:11506600-11506800	Enhancers	Osteobl	bone
8	chr18:11506600-11507000	Enhancers	NH-A	brain
9	chr18:11506800-11507000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:11506800-11507000	Flanking Active TSS	Osteobl	bone
11	chr18:11507000-11507200	Enhancers	Osteobl	bone
12	chr18:11507000-11509800	Weak transcription	Fetal Thymus	thymus
13	chr18:11507000-11511800	Weak transcription	Thymus	Thymus
14	chr18:11507200-11509000	Weak transcription	Dnd41	blood
15	chr18:11507400-11512000	Weak transcription	Hela-S3	cervix
16	chr18:11509000-11511800	Enhancers	Dnd41	blood
17	chr18:11509800-11511800	Enhancers	Fetal Thymus	thymus
18	chr18:11511000-11511600	Enhancers	GM12878-XiMat	blood
19	chr18:11511400-11512000	Enhancers	Primary T cells from cord blood	blood
20	chr18:11511600-11512600	Flanking Active TSS	GM12878-XiMat	blood
21	chr18:11511800-11512200	Flanking Active TSS	Fetal Thymus	thymus
22	chr18:11511800-11512400	Enhancers	Primary B cells from peripheral blood	blood
23	chr18:11511800-11512400	Flanking Active TSS	Dnd41	blood
24	chr18:11511800-11512800	Enhancers	Thymus	Thymus
25	chr18:11511800-11513400	Enhancers	Skeletal Muscle Female	skeletal muscle

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