Variant report

Variant	esv3500936
Chromosome Location	chr18:9322852-9328450
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9315114..9319116-chr18:9321910..9324742,4	K562	blood:
2	chr18:9324675..9326471-chr18:9332676..9335507,2	K562	blood:
3	chr18:9328376..9330058-chr18:9340619..9342360,2	K562	blood:
4	chr18:9320999..9323405-chr18:9332833..9334448,2	MCF-7	breast:
5	chr18:9321590..9323951-chr18:9334046..9336771,2	K562	blood:
6	chr18:9320913..9322639-chr18:9326828..9329816,2	K562	blood:
7	chr18:9321590..9324393-chr18:9335176..9336771,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP4R1-15	chr18:9324135-9324468	l_1521_chr18:9281108-9324468_testes

No data

Variant related genes	Relation type
ENSG00000264964	chromatin interactions
ENSG00000128791	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530295643	chr18:9322951-9322952	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559411825	chr18:9322975-9322976	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548785354	chr18:9322990-9322991	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116521591	chr18:9323039-9323040	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537956442	chr18:9323052-9323053	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs137986186	chr18:9323066-9323067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571362700	chr18:9323077-9323078	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369487966	chr18:9323098-9323099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527943739	chr18:9323154-9323155	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562495419	chr18:9323155-9323156	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548103431	chr18:9323171-9323172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192925682	chr18:9323385-9323386	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116009116	chr18:9323410-9323411	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545153930	chr18:9323424-9323425	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536130730	chr18:9323426-9323427	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554756878	chr18:9323477-9323478	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs375612173	chr18:9323499-9323500	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79819051	chr18:9323607-9323608	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531254921	chr18:9323612-9323613	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142697349	chr18:9323622-9323623	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs118005385	chr18:9323667-9323668	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541042528	chr18:9323680-9323681	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs17414871	chr18:9323753-9323754	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146023893	chr18:9323775-9323776	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548560081	chr18:9323793-9323794	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569774546	chr18:9323854-9323855	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563999910	chr18:9323916-9323917	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531059245	chr18:9323950-9323951	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552716084	chr18:9323955-9323956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571402942	chr18:9324076-9324077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185103509	chr18:9324155-9324156	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs547439426	chr18:9324176-9324177	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565634612	chr18:9324177-9324178	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536232677	chr18:9324227-9324228	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538754306	chr18:9324269-9324270	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs57292829	chr18:9324321-9324322	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569907242	chr18:9324413-9324414	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201754411	chr18:9324414-9324415	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs189681097	chr18:9324419-9324420	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs57848682	chr18:9324422-9324423	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576946139	chr18:9324461-9324462	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs140047559	chr18:9324472-9324473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551479180	chr18:9324480-9324481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8082834	chr18:9324483-9324484	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs542205165	chr18:9324515-9324516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571398766	chr18:9324540-9324541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181164905	chr18:9324557-9324558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184073405	chr18:9324598-9324599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143578677	chr18:9324621-9324622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570615111	chr18:9324647-9324648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	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
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9320000-9324600	Enhancers	HUVEC	blood vessel
2	chr18:9320200-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:9320400-9324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:9320600-9333400	Weak transcription	Aorta	Aorta
5	chr18:9320800-9323000	Enhancers	Fetal Lung	lung
6	chr18:9321000-9325800	Weak transcription	Placenta	Placenta
7	chr18:9321400-9323400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:9321400-9323800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:9321800-9323800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:9321800-9333600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:9321800-9333600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:9322000-9323000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr18:9322000-9323000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr18:9322000-9323600	Weak transcription	NHDF-Ad	bronchial
15	chr18:9322200-9323800	Weak transcription	NHLF	lung
16	chr18:9322600-9323200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:9322800-9323000	Enhancers	K562	blood
18	chr18:9322800-9324800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:9323000-9323200	Flanking Active TSS	K562	blood
20	chr18:9323000-9324200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr18:9323000-9328200	Weak transcription	Fetal Lung	lung
22	chr18:9323200-9324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:9323400-9324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:9323400-9324800	Enhancers	HSMM	muscle
25	chr18:9323600-9324400	Enhancers	NHDF-Ad	bronchial
26	chr18:9323800-9324200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr18:9323800-9324200	Enhancers	NH-A	brain
28	chr18:9323800-9324400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:9323800-9324400	Enhancers	NHLF	lung
30	chr18:9323800-9324400	Enhancers	Osteobl	bone
31	chr18:9323800-9324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:9324000-9324400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr18:9324000-9324400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:9324000-9324600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:9324000-9324600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr18:9324000-9324600	Enhancers	HMEC	breast
37	chr18:9324000-9324600	Enhancers	NHEK	skin
38	chr18:9324200-9324400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr18:9324400-9333400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:9324600-9329400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:9324600-9334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:9324800-9328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:9325800-9327400	Enhancers	Placenta	Placenta
44	chr18:9327400-9333400	Weak transcription	Placenta	Placenta
45	chr18:9328200-9328400	ZNF genes & repeats	Fetal Lung	lung

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