Variant report

Variant	esv3391720
Chromosome Location	chr18:14997177-14999725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114477200	chr18:14997219-14997220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538147861	chr18:14997241-14997242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535514243	chr18:14997258-14997259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556023536	chr18:14997316-14997317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575889934	chr18:14997346-14997347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187691119	chr18:14997360-14997361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12959152	chr18:14997386-14997387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576028062	chr18:14997406-14997407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12959512	chr18:14997409-14997410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs12959519	chr18:14997424-14997425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12960404	chr18:14997438-14997439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12959165	chr18:14997464-14997465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12959278	chr18:14997479-14997480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576504094	chr18:14997489-14997490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545510938	chr18:14997490-14997491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12959177	chr18:14997496-14997497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559059850	chr18:14997507-14997508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2005092	chr18:14997513-14997514	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192350256	chr18:14997523-14997524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373912501	chr18:14997524-14997525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12959424	chr18:14997548-14997549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12959300	chr18:14997555-14997556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562003532	chr18:14997571-14997572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs530722912	chr18:14997592-14997593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183692223	chr18:14997601-14997602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376837551	chr18:14997628-14997629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570680266	chr18:14997633-14997634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369411628	chr18:14997653-14997654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs907504	chr18:14997663-14997664	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115811993	chr18:14997681-14997682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12959481	chr18:14997696-14997697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12959600	chr18:14997709-14997710	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535833463	chr18:14997749-14997750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375883334	chr18:14997757-14997758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35245476	chr18:14997766-14997767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569489424	chr18:14997792-14997793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538169491	chr18:14997793-14997794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556169934	chr18:14997802-14997803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577801657	chr18:14997805-14997806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138013079	chr18:14997813-14997814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60600126	chr18:14997814-14997815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12607042	chr18:14997823-14997824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540456545	chr18:14997832-14997833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553032634	chr18:14997843-14997844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572890537	chr18:14997864-14997865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541765760	chr18:14997869-14997870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370188736	chr18:14997871-14997872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561529028	chr18:14997895-14997896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533863196	chr18:14997947-14997948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575579646	chr18:14997956-14997957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
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	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14993000-14997400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14997400-14998000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:14997400-14999800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:14997600-14999400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:14999000-15000400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:14999200-15000400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:14999400-14999600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:14999400-15000000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:14999400-15000200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr18:14999600-15000000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr18:14999600-15000400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:14999600-15000400	Active TSS	Osteobl	bone

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