Variant report

Variant	nsv9600
Chromosome Location	chr18:315966-318389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr18:317669-317878	K562	blood:	n/a	n/a
2	E2F6	chr18:317589-317975	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUN	chr18:316388-316778	HUVEC	blood vessel:	n/a	chr18:316542-316550 chr18:316538-316549
4	MAX	chr18:317714-317971	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr18:317678-317978	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr18:317636-318036	K562	blood:	n/a	n/a
7	POLR2A	chr18:316623-316659	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr18:316442-316731	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP14-4	chr18:316737-316986	ENSG00000264514.1
2	lnc-USP14-4	chr18:314887-317129	XLOC_012601
3	lnc-COLEC12-1	chr18:317099-317366	ENSG00000264433.1
4	lnc-USP14-4	chr18:317866-318033	XLOC_012601
5	lnc-COLEC12-1	chr18:316740-316963	ENSG00000264433.1

No data

Variant related genes	Relation type
ENSG00000264433	TF binding region
ENSG00000264514	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572415187	chr18:315966-315967	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs549038132	chr18:316042-316043	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs545805927	chr18:316051-316052	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs113925114	chr18:316120-316121	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576035140	chr18:316152-316153	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs145856761	chr18:316245-316246	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562907559	chr18:316251-316252	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530327925	chr18:316293-316294	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs561340436	chr18:316300-316301	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs77146099	chr18:316320-316321	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs60318638	chr18:316349-316350	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs56198104	chr18:316352-316353	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72857581	chr18:316409-316410	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs534445632	chr18:316458-316459	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs570844804	chr18:316474-316475	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs151040456	chr18:316479-316480	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554512157	chr18:316531-316532	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs548882678	chr18:316541-316542	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs140919931	chr18:316551-316552	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs621638	chr18:316558-316559	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150226142	chr18:316562-316563	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs191348776	chr18:316570-316571	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs553130686	chr18:316580-316581	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs565964309	chr18:316581-316582	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs539774135	chr18:316593-316594	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs182674254	chr18:316621-316622	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs116807581	chr18:316668-316669	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs368870504	chr18:316679-316680	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs558359982	chr18:316680-316681	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs555446663	chr18:316712-316713	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs116185319	chr18:316739-316740	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs4602116	chr18:316741-316742	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs4602117	chr18:316750-316751	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs73370001	chr18:316764-316765	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35894234	chr18:316797-316798	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555922977	chr18:316825-316826	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs185291409	chr18:316834-316835	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs34019105	chr18:316897-316898	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs397859081	chr18:316900-316901	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs572374739	chr18:316903-316904	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs565046229	chr18:316945-316946	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs527504306	chr18:316952-316953	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs578148625	chr18:316977-316978	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs564281935	chr18:317007-317008	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs60594127	chr18:317044-317045	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372675918	chr18:317050-317051	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560870171	chr18:317079-317080	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs562202583	chr18:317088-317089	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs368814398	chr18:317094-317095	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs547593616	chr18:317101-317102	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:305600-318800	Weak transcription	Fetal Lung	lung
2	chr18:307000-322600	Weak transcription	Right Atrium	heart
3	chr18:312800-316200	Weak transcription	Lung	lung
4	chr18:312800-323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:313200-316400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:314000-316400	Enhancers	NHDF-Ad	bronchial
7	chr18:314200-316400	Enhancers	Placenta	Placenta
8	chr18:314200-321800	Weak transcription	Fetal Stomach	stomach
9	chr18:314400-335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:314600-318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:314800-316000	Weak transcription	HUVEC	blood vessel
12	chr18:314800-318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:315000-316800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:315000-321600	Weak transcription	Brain Hippocampus Middle	brain
15	chr18:315000-321800	Weak transcription	Adipose Nuclei	Adipose
16	chr18:316000-317600	Enhancers	HUVEC	blood vessel
17	chr18:316200-316400	Enhancers	Fetal Muscle Leg	muscle
18	chr18:316200-316400	Enhancers	Lung	lung
19	chr18:316400-319000	Weak transcription	NHDF-Ad	bronchial
20	chr18:316400-322600	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:316400-326800	Weak transcription	Placenta	Placenta
22	chr18:316400-331200	Weak transcription	Lung	lung
23	chr18:316800-317600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:317000-317800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:317400-317800	Bivalent Enhancer	K562	blood
26	chr18:317600-317800	Enhancers	Fetal Muscle Trunk	muscle
27	chr18:317600-318800	Weak transcription	HUVEC	blood vessel
28	chr18:317600-321800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:317600-346200	Weak transcription	Fetal Brain Male	brain
30	chr18:317800-318000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:317800-318000	Flanking Bivalent TSS/Enh	K562	blood
32	chr18:317800-322600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr18:317800-348600	Weak transcription	Gastric	stomach
34	chr18:318000-320000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:318000-322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:318000-345800	Weak transcription	Fetal Intestine Small	intestine
37	chr18:318200-320200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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