Variant report

Variant	esv990849
Chromosome Location	chr18:29428805-29431175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 70 )

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	rs574230731	chr18:29428806-29428807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76433562	chr18:29428942-29428943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78618612	chr18:29428943-29428944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79124128	chr18:29428944-29428945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116079823	chr18:29428991-29428992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11361265	chr18:29429036-29429037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11876025	chr18:29429062-29429063	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192508154	chr18:29429070-29429071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184488301	chr18:29429072-29429073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115243760	chr18:29429089-29429090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532535044	chr18:29429105-29429106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568958079	chr18:29429108-29429109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34698679	chr18:29429122-29429123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562711643	chr18:29429129-29429130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569371176	chr18:29429131-29429132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187452385	chr18:29429179-29429180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552621241	chr18:29429261-29429262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548400796	chr18:29429287-29429288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566624048	chr18:29429375-29429376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142972912	chr18:29429378-29429379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567009586	chr18:29429382-29429383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558791505	chr18:29429404-29429405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570447562	chr18:29429424-29429425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537438040	chr18:29429458-29429459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147563001	chr18:29429460-29429461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140254833	chr18:29429461-29429462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191738652	chr18:29429484-29429485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201566779	chr18:29429488-29429489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183873974	chr18:29429491-29429492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372297016	chr18:29429510-29429511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375394187	chr18:29429512-29429513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113038000	chr18:29429516-29429517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143706885	chr18:29429540-29429541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370664592	chr18:29429548-29429549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148103026	chr18:29429575-29429576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141947332	chr18:29429596-29429597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565570828	chr18:29429599-29429600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150238028	chr18:29429633-29429634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78689148	chr18:29429662-29429663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568713803	chr18:29429666-29429667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36034613	chr18:29429699-29429700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200538091	chr18:29429708-29429709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554480735	chr18:29429720-29429721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144319683	chr18:29429755-29429756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548633469	chr18:29429767-29429768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540094976	chr18:29429840-29429841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557334123	chr18:29429842-29429843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566878586	chr18:29429844-29429845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114863384	chr18:29429891-29429892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551992631	chr18:29429918-29429919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29406800-29431600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:29407400-29429800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:29407400-29432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:29407800-29431200	Weak transcription	Psoas Muscle	Psoas
7	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:29409600-29430000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr18:29409600-29430600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr18:29409800-29432000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:29409800-29466600	Weak transcription	Gastric	stomach
15	chr18:29410400-29431400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:29413200-29437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
18	chr18:29414200-29444800	Strong transcription	Fetal Thymus	thymus
19	chr18:29414400-29448200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
21	chr18:29416000-29432000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:29416200-29430000	Weak transcription	Lung	lung
23	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
24	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:29418200-29429800	Weak transcription	Fetal Intestine Small	intestine
26	chr18:29418200-29431400	Weak transcription	Fetal Stomach	stomach
27	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:29418600-29431800	Weak transcription	Small Intestine	intestine
30	chr18:29418600-29432000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:29418600-29436000	Weak transcription	Pancreas	Pancrea
32	chr18:29418600-29454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
34	chr18:29418800-29430400	Weak transcription	Fetal Kidney	kidney
35	chr18:29418800-29431000	Weak transcription	HSMMtube	muscle
36	chr18:29418800-29431400	Weak transcription	Brain Angular Gyrus	brain
37	chr18:29418800-29431400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:29418800-29431600	Weak transcription	Brain Substantia Nigra	brain
39	chr18:29418800-29431800	Weak transcription	Brain Anterior Caudate	brain
40	chr18:29418800-29432000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:29418800-29432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
43	chr18:29418800-29456600	Weak transcription	NHEK	skin
44	chr18:29419000-29429200	Weak transcription	K562	blood
45	chr18:29419000-29431400	Weak transcription	Colon Smooth Muscle	Colon
46	chr18:29419000-29431800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:29419000-29431800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:29419000-29431800	Weak transcription	Stomach Mucosa	stomach
49	chr18:29419000-29432000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr18:29419000-29433400	Weak transcription	A549	lung

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