Variant report

Variant	esv3451172
Chromosome Location	chr18:14752652-14756450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14755612-14755726	GM10266	blood:	n/a	n/a
2	EP300	chr18:14752926-14753092	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-1210P	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs556051000	chr18:14752655-14752656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546557444	chr18:14752676-14752677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574383616	chr18:14752704-14752705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12959778	chr18:14752723-14752724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs45487996	chr18:14752739-14752740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs45620343	chr18:14752768-14752769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576848402	chr18:14752773-14752774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556937555	chr18:14752806-14752807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374547236	chr18:14752816-14752817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199597228	chr18:14752849-14752850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559142364	chr18:14752850-14752851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572652697	chr18:14752854-14752855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368825805	chr18:14752909-14752910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541728454	chr18:14752923-14752924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12457503	chr18:14752957-14752958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146944735	chr18:14752973-14752974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370471349	chr18:14752976-14752977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201536919	chr18:14752986-14752987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138054870	chr18:14752996-14752997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533482869	chr18:14753066-14753067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187185365	chr18:14753080-14753081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572987158	chr18:14753176-14753177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567074877	chr18:14753178-14753179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369509986	chr18:14753229-14753230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192680985	chr18:14753261-14753262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549739130	chr18:14753274-14753275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75119843	chr18:14753279-14753280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185430349	chr18:14753321-14753322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188296014	chr18:14753330-14753331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368888559	chr18:14753353-14753354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569217132	chr18:14753356-14753357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372596015	chr18:14753357-14753358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113345255	chr18:14753367-14753368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576744003	chr18:14753384-14753385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113827056	chr18:14753400-14753401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552608032	chr18:14753411-14753412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9709980	chr18:14753435-14753436	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs541618923	chr18:14753464-14753465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117900645	chr18:14753472-14753473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146828389	chr18:14753474-14753475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148373071	chr18:14753488-14753489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564347363	chr18:14753508-14753509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9963389	chr18:14753511-14753512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141558361	chr18:14753512-14753513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12103991	chr18:14753532-14753533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9709696	chr18:14753565-14753566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560699041	chr18:14753588-14753589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138118206	chr18:14753601-14753602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569398128	chr18:14753611-14753612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538176983	chr18:14753618-14753619	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14749200-14768000	Weak transcription	Osteobl	bone

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