Variant report

Variant	esv3353557
Chromosome Location	chr18:12123252-12126250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12119299..12121034-chr18:12123082..12124691,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4343347	chr18:12123284-12123285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543734991	chr18:12123340-12123341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565122543	chr18:12123343-12123344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186070073	chr18:12123448-12123449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12604356	chr18:12123554-12123555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373479486	chr18:12123573-12123574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191366477	chr18:12123689-12123690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9958424	chr18:12123709-12123710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7232368	chr18:12123724-12123725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs79464761	chr18:12123738-12123739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549188660	chr18:12123795-12123796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35623639	chr18:12123863-12123864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28648884	chr18:12123886-12123887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs569717161	chr18:12123917-12123918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537324162	chr18:12123948-12123949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111251550	chr18:12123986-12123987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112582608	chr18:12123987-12123988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552463506	chr18:12124022-12124023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373061992	chr18:12124037-12124038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570779722	chr18:12124069-12124070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75138699	chr18:12124086-12124087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138938312	chr18:12124108-12124109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183197721	chr18:12124116-12124117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546718296	chr18:12124121-12124122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200601818	chr18:12124125-12124126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202042984	chr18:12124133-12124134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11873244	chr18:12124152-12124153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs267605117	chr18:12124176-12124177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572438289	chr18:12124184-12124185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144636282	chr18:12124196-12124197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12961208	chr18:12124198-12124199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576062956	chr18:12124217-12124218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543428015	chr18:12124277-12124278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558797618	chr18:12124321-12124322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200578699	chr18:12124333-12124334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577470351	chr18:12124354-12124355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188656308	chr18:12124479-12124480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12960924	chr18:12124501-12124502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192177275	chr18:12124558-12124559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12961834	chr18:12124560-12124561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188758735	chr18:12124578-12124579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541976937	chr18:12124580-12124581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563384745	chr18:12124657-12124658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530487948	chr18:12124670-12124671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183257358	chr18:12124692-12124693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199561864	chr18:12124716-12124717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397781443	chr18:12124717-12124718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371230098	chr18:12124718-12124719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527410544	chr18:12124733-12124734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546473274	chr18:12124734-12124735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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	19212409	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12114200-12130600	Weak transcription	Pancreas	Pancrea
2	chr18:12125800-12126000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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