Variant report

Variant	esv3394798
Chromosome Location	chr18:11802652-11805250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11797685..11800645-chr18:11801246..11803919,2	K562	blood:
2	chr18:11799981..11803304-chr18:11803781..11805742,3	MCF-7	breast:
3	chr18:11760947..11763375-chr18:11800729..11802861,2	K562	blood:
4	chr18:11799981..11803304-chr18:11803781..11805742,3	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs535989229	chr18:11802691-11802692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368683515	chr18:11802720-11802721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554245601	chr18:11802729-11802730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534567544	chr18:11802786-11802787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536866833	chr18:11802866-11802867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146291679	chr18:11802893-11802894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558688533	chr18:11802896-11802897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371972815	chr18:11802910-11802911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577088708	chr18:11802911-11802912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543361877	chr18:11802937-11802938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9303749	chr18:11802991-11802992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554256845	chr18:11802997-11802998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572476387	chr18:11803004-11803005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191333326	chr18:11803014-11803015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9972997	chr18:11803082-11803083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561384966	chr18:11803083-11803084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115816113	chr18:11803095-11803096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543683968	chr18:11803100-11803101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139762597	chr18:11803126-11803127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539048764	chr18:11803130-11803131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143112188	chr18:11803187-11803188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150690965	chr18:11803223-11803224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548065446	chr18:11803256-11803257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565985499	chr18:11803260-11803261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529648946	chr18:11803269-11803270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55882105	chr18:11803287-11803288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557157462	chr18:11803320-11803321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57536188	chr18:11803339-11803340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77143257	chr18:11803423-11803424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149819986	chr18:11803451-11803452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183958728	chr18:11803564-11803565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144958662	chr18:11803569-11803570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114614853	chr18:11803580-11803581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574752024	chr18:11803605-11803606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543066387	chr18:11803636-11803637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58359702	chr18:11803637-11803638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112775072	chr18:11803644-11803645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12958122	chr18:11803652-11803653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576494865	chr18:11803653-11803654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376502442	chr18:11803669-11803670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565384379	chr18:11803676-11803677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112925680	chr18:11803685-11803686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111285561	chr18:11803692-11803693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532742591	chr18:11803700-11803701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188638126	chr18:11803701-11803702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191813004	chr18:11803703-11803704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60736251	chr18:11803707-11803708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112245419	chr18:11803733-11803734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547808804	chr18:11803741-11803742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562925446	chr18:11803742-11803743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11785600-11802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11785800-11805200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11789400-11807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:11790600-11809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:11791800-11806600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:11792000-11805800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:11796200-11806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:11798400-11806600	Weak transcription	A549	lung
10	chr18:11798600-11805400	Weak transcription	Hela-S3	cervix
11	chr18:11799000-11807000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:11801000-11803200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:11801000-11803200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:11802800-11803000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:11803000-11803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:11803200-11803400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:11803200-11803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:11805200-11805400	Enhancers	Brain Anterior Caudate	brain

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