Variant report

Variant	esv3491566
Chromosome Location	chr18:43526593-43528491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43525078..43527473-chr18:43527531..43529739,4	K562	blood:
2	chr18:43521496..43524399-chr18:43525900..43528243,2	MCF-7	breast:
3	chr18:43524994..43527473-chr18:43527647..43529739,3	K562	blood:
4	chr18:43524994..43527473-chr18:43527647..43529739,3	K562	blood:
5	chr18:43525078..43527473-chr18:43527531..43529739,4	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148486293	chr18:43526612-43526613	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368530443	chr18:43526654-43526655	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142601828	chr18:43526693-43526694	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372785168	chr18:43526694-43526695	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183660877	chr18:43526697-43526698	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527293119	chr18:43526698-43526699	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375990723	chr18:43526700-43526701	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547243473	chr18:43526725-43526726	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368399347	chr18:43526726-43526727	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528765573	chr18:43526757-43526758	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8090934	chr18:43526772-43526773	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61310718	chr18:43526776-43526777	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529626314	chr18:43526839-43526840	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189387618	chr18:43526934-43526935	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146001507	chr18:43526945-43526946	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539929032	chr18:43526949-43526950	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551912970	chr18:43526957-43526958	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114597140	chr18:43526978-43526979	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533956747	chr18:43527012-43527013	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529978344	chr18:43527019-43527020	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552892086	chr18:43527071-43527072	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374819642	chr18:43527097-43527098	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182228395	chr18:43527109-43527110	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538190031	chr18:43527119-43527120	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555930267	chr18:43527210-43527211	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9964347	chr18:43527251-43527252	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544659307	chr18:43527280-43527281	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539102622	chr18:43527315-43527316	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538503113	chr18:43527322-43527323	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143315627	chr18:43527333-43527334	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187373858	chr18:43527353-43527354	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146665590	chr18:43527359-43527360	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542241596	chr18:43527372-43527373	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113903940	chr18:43527401-43527402	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117605170	chr18:43527407-43527408	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551332926	chr18:43527450-43527451	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149881715	chr18:43527472-43527473	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190154295	chr18:43527526-43527527	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181397451	chr18:43527527-43527528	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537812596	chr18:43527558-43527559	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566837662	chr18:43527636-43527637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534332240	chr18:43527661-43527662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549108268	chr18:43527698-43527699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185487847	chr18:43527713-43527714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112905393	chr18:43527720-43527721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528778673	chr18:43527742-43527743	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556044437	chr18:43527752-43527753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574769192	chr18:43527770-43527771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190001700	chr18:43527780-43527781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76208694	chr18:43527801-43527802	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
4	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
5	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
8	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
10	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:43501200-43535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:43501200-43536000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:43505000-43528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:43512200-43536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:43512400-43535200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr18:43512400-43535600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:43512600-43531000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:43514200-43526800	Strong transcription	NHDF-Ad	bronchial
19	chr18:43514400-43529400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr18:43514400-43536200	Strong transcription	Fetal Thymus	thymus
21	chr18:43514400-43536400	Strong transcription	Dnd41	blood
22	chr18:43514400-43537000	Strong transcription	Primary B cells from cord blood	blood
23	chr18:43514600-43529200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:43514600-43536400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:43516200-43528600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:43516200-43528600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:43516200-43529600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:43516200-43529800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr18:43516800-43530600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:43517600-43529600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:43517600-43529600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:43517600-43533400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:43517600-43535200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr18:43517600-43535400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr18:43517600-43535600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:43517600-43536200	Strong transcription	Liver	Liver
37	chr18:43517800-43527000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:43517800-43527200	Strong transcription	Brain Anterior Caudate	brain
39	chr18:43517800-43529200	Strong transcription	Brain Germinal Matrix	brain
40	chr18:43517800-43529600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr18:43517800-43530800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:43517800-43533600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:43517800-43533600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:43517800-43536000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:43517800-43536000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:43517800-43536200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:43518000-43527200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:43518000-43528000	Strong transcription	Fetal Intestine Small	intestine
49	chr18:43518000-43528000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr18:43518000-43529200	Strong transcription	Fetal Brain Female	brain

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