Variant report

Variant	esv3347612
Chromosome Location	chr18:29975003-29990362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr18:29985804-29985827	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr18:29976199-29976288	GM13976	blood:	n/a	n/a
3	CTCF	chr18:29986189-29986275	Lung_OC	lung:	n/a	n/a
4	CTCF	chr18:29975225-29975257	Kidney_OC	kidney:	n/a	n/a
5	EP300	chr18:29988666-29988673	K562	blood:	n/a	n/a
6	FOS	chr18:29987890-29987895	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA1	chr18:29983355-29983543	T-47D	breast:	n/a	n/a
8	GATA3	chr18:29983280-29983773	MCF-7	breast:	n/a	n/a
9	MAFK	chr18:29988882-29988968	HepG2	liver:	n/a	n/a
10	POLR2A	chr18:29981433-29981555	MCF10A-Er-Src	breast:	n/a	n/a
11	SETDB1	chr18:29977114-29977482	U2OS	brain:	n/a	n/a
12	STAT3	chr18:29985927-29986127	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29982431..29984298-chr18:29998082..29999982,2	MCF-7	breast:
2	chr18:29984305..29986274-chr18:30049162..30050819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262477	TF binding region
ENSG00000141441	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189685591	chr18:29975010-29975011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113116160	chr18:29975043-29975044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150423002	chr18:29975094-29975095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114504387	chr18:29975140-29975141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181289297	chr18:29975145-29975146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375622758	chr18:29975163-29975164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575529424	chr18:29975171-29975172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186758462	chr18:29975221-29975222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145370049	chr18:29975271-29975272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561307666	chr18:29975279-29975280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149195222	chr18:29975283-29975284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190749762	chr18:29975294-29975295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115668356	chr18:29975312-29975313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565381023	chr18:29975313-29975314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17811474	chr18:29975359-29975360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143325593	chr18:29975360-29975361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573665000	chr18:29975374-29975375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181001753	chr18:29975415-29975416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373018116	chr18:29975449-29975450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139349501	chr18:29975500-29975501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529591664	chr18:29975609-29975610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534015740	chr18:29975620-29975621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186375967	chr18:29975625-29975626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570222696	chr18:29975661-29975662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547575815	chr18:29975713-29975714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555717591	chr18:29975716-29975717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191133414	chr18:29975735-29975736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542916465	chr18:29975787-29975788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182922000	chr18:29975799-29975800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573306940	chr18:29975806-29975807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188379811	chr18:29975848-29975849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7233422	chr18:29975867-29975868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7234683	chr18:29975875-29975876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544748865	chr18:29975876-29975877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553651404	chr18:29975915-29975916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77074012	chr18:29975923-29975924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562857845	chr18:29975975-29975976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141701800	chr18:29975976-29975977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192063856	chr18:29975984-29975985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566761948	chr18:29976016-29976017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527455378	chr18:29976029-29976030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150540621	chr18:29976050-29976051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139500818	chr18:29976066-29976067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374061101	chr18:29976107-29976108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112372485	chr18:29976117-29976118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550968261	chr18:29976145-29976146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146231106	chr18:29976162-29976163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535432527	chr18:29976226-29976227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554920980	chr18:29976238-29976239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182947140	chr18:29976248-29976249	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29959200-29975400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29963600-29976200	Weak transcription	Aorta	Aorta
3	chr18:29963600-29999200	Weak transcription	Fetal Kidney	kidney
4	chr18:29964800-29985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:29966600-29981400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr18:29966800-29985400	Weak transcription	Right Ventricle	heart
7	chr18:29967000-29986600	Weak transcription	Brain Angular Gyrus	brain
8	chr18:29974200-29977400	Weak transcription	Ovary	ovary
9	chr18:29975000-29975400	Enhancers	Brain Cingulate Gyrus	brain
10	chr18:29975400-29976600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:29980200-29981800	Weak transcription	Stomach Mucosa	stomach
12	chr18:29980200-29982400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr18:29981000-29982400	Weak transcription	Ovary	ovary
14	chr18:29981400-29981800	Enhancers	Adipose Nuclei	Adipose
15	chr18:29981400-29982000	Enhancers	Fetal Lung	lung
16	chr18:29981400-29982800	Enhancers	Colon Smooth Muscle	Colon
17	chr18:29981400-29982800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr18:29981600-29982800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr18:29981800-29982000	Enhancers	Stomach Mucosa	stomach
20	chr18:29981800-29982800	Enhancers	Brain Hippocampus Middle	brain
21	chr18:29981800-29986800	Weak transcription	Adipose Nuclei	Adipose
22	chr18:29982000-30005400	Weak transcription	Stomach Mucosa	stomach
23	chr18:29982200-29983000	Enhancers	Liver	Liver
24	chr18:29982400-29982600	Enhancers	Brain Cingulate Gyrus	brain
25	chr18:29982400-29982600	Enhancers	Fetal Heart	heart
26	chr18:29982400-29983000	Enhancers	Ovary	ovary
27	chr18:29982600-29982800	Enhancers	Brain Substantia Nigra	brain
28	chr18:29982600-29987000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:29982600-29987200	Weak transcription	Fetal Heart	heart
30	chr18:29982800-29985600	Weak transcription	Colon Smooth Muscle	Colon
31	chr18:29982800-29985800	Weak transcription	Brain Substantia Nigra	brain
32	chr18:29982800-29987000	Weak transcription	Brain Hippocampus Middle	brain
33	chr18:29982800-29987000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:29983000-29983800	Enhancers	Pancreas	Pancrea
35	chr18:29983000-29987200	Weak transcription	Ovary	ovary
36	chr18:29983400-29983800	Enhancers	Gastric	stomach
37	chr18:29983800-29985200	Weak transcription	Pancreas	Pancrea
38	chr18:29983800-29987000	Weak transcription	Gastric	stomach
39	chr18:29983800-29987600	Weak transcription	Brain Anterior Caudate	brain
40	chr18:29984000-29984200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr18:29984200-29985400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:29985200-29985400	Enhancers	Pancreas	Pancrea
43	chr18:29985400-29985600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr18:29985400-29985800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr18:29985400-29985800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr18:29985400-29985800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:29985400-29985800	Enhancers	Left Ventricle	heart
48	chr18:29985400-29985800	Enhancers	Psoas Muscle	Psoas
49	chr18:29985400-29985800	Enhancers	Right Ventricle	heart
50	chr18:29985400-29986000	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links