Variant report

Variant	esv1833771
Chromosome Location	chr18:29885871-29889203
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	chr18:29887452..29890348-chr18:30046410..30049276,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs636391	chr18:29885871-29885872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs59340191	chr18:29885918-29885919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549388717	chr18:29885939-29885940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546465723	chr18:29885940-29885941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567539874	chr18:29885982-29885983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186326402	chr18:29886000-29886001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547115928	chr18:29886006-29886007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138610718	chr18:29886023-29886024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149292697	chr18:29886160-29886161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533239939	chr18:29886182-29886183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35526409	chr18:29886196-29886197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556849339	chr18:29886206-29886207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114738579	chr18:29886263-29886264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144533370	chr18:29886286-29886287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554589350	chr18:29886320-29886321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191566974	chr18:29886345-29886346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117739976	chr18:29886357-29886358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139783816	chr18:29886415-29886416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200909668	chr18:29886424-29886425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs598074	chr18:29886425-29886426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35792232	chr18:29886426-29886427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34231686	chr18:29886434-29886435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377059509	chr18:29886435-29886436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531272961	chr18:29886438-29886439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367603541	chr18:29886492-29886493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542945127	chr18:29886516-29886517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533253995	chr18:29886548-29886549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561516050	chr18:29886552-29886553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143690480	chr18:29886583-29886584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200638899	chr18:29886610-29886611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569852232	chr18:29886729-29886730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375531417	chr18:29886775-29886776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112148565	chr18:29886780-29886781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550257029	chr18:29886877-29886878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568571020	chr18:29886881-29886882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532476822	chr18:29886992-29886993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9960214	chr18:29887109-29887110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147458583	chr18:29887129-29887130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565970945	chr18:29887149-29887150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536596241	chr18:29887151-29887152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554570033	chr18:29887172-29887173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186879574	chr18:29887205-29887206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs620723	chr18:29887211-29887212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558103386	chr18:29887253-29887254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576559310	chr18:29887256-29887257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543958167	chr18:29887273-29887274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557574734	chr18:29887286-29887287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575749716	chr18:29887311-29887312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190901857	chr18:29887352-29887353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561581353	chr18:29887390-29887391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868000-29888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr18:29868000-29888800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:29868000-29889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:29868000-29889000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:29868200-29889800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr18:29868200-29923800	Weak transcription	Gastric	stomach
7	chr18:29878400-29888800	Weak transcription	Liver	Liver
8	chr18:29878400-29890000	Weak transcription	Fetal Kidney	kidney
9	chr18:29878400-29896000	Weak transcription	Brain Anterior Caudate	brain
10	chr18:29878600-29888000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:29878600-29890200	Weak transcription	Brain Angular Gyrus	brain
12	chr18:29878800-29890000	Weak transcription	Fetal Brain Male	brain
13	chr18:29880800-29897000	Weak transcription	Lung	lung
14	chr18:29881600-29892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr18:29881800-29888800	Weak transcription	Fetal Stomach	stomach
16	chr18:29882000-29888200	Weak transcription	HSMM	muscle
17	chr18:29882200-29888800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:29882200-29888800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr18:29882200-29890000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:29882600-29888200	Weak transcription	NHEK	skin
21	chr18:29882800-29888200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:29882800-29888600	Weak transcription	NH-A	brain
23	chr18:29882800-29888800	Weak transcription	Small Intestine	intestine
24	chr18:29882800-29889000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:29882800-29890000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:29883000-29888000	Weak transcription	HMEC	breast
27	chr18:29883000-29888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:29883000-29888400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:29883000-29888800	Weak transcription	HSMMtube	muscle
30	chr18:29883000-29890800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:29883000-29891400	Weak transcription	Adipose Nuclei	Adipose
32	chr18:29883000-29891600	Weak transcription	Pancreas	Pancrea
33	chr18:29883000-29895800	Weak transcription	Stomach Mucosa	stomach
34	chr18:29883000-29897000	Weak transcription	Fetal Intestine Small	intestine
35	chr18:29883000-29897000	Weak transcription	Left Ventricle	heart
36	chr18:29883200-29888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:29883200-29889000	Weak transcription	NHDF-Ad	bronchial
38	chr18:29883400-29888200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:29883400-29889000	Weak transcription	Fetal Muscle Leg	muscle
40	chr18:29883400-29896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:29883600-29888200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:29883800-29888800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:29883800-29888800	Weak transcription	Aorta	Aorta
44	chr18:29883800-29888800	Weak transcription	Right Atrium	heart
45	chr18:29883800-29888800	Weak transcription	Right Ventricle	heart
46	chr18:29883800-29893000	Weak transcription	Fetal Heart	heart
47	chr18:29885800-29886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr18:29886000-29886200	Weak transcription	Spleen	Spleen
49	chr18:29886200-29886400	Enhancers	Spleen	Spleen
50	chr18:29886400-29889200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links