Variant report

Variant	esv2627568
Chromosome Location	chr18:45378625-45380157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr18:45379570-45379813	GM12878	blood:	n/a	n/a
2	BATF	chr18:45379443-45379821	GM12878	blood:	n/a	n/a
3	BCL11A	chr18:45379518-45379810	GM12878	blood:	n/a	n/a
4	BCL11A	chr18:45379557-45379920	GM12878	blood:	n/a	n/a
5	BHLHE40	chr18:45379541-45379905	HepG2	liver:	n/a	n/a
6	CEBPB	chr18:45379586-45379786	K562	blood:	n/a	n/a
7	CEBPD	chr18:45379393-45379959	K562	blood:	n/a	n/a
8	CHD1	chr18:45380009-45380040	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr18:45379588-45379789	K562	blood:	n/a	n/a
10	CTCF	chr18:45379570-45379796	K562	blood:	n/a	n/a
11	EBF1	chr18:45379446-45379803	GM12878	blood:	n/a	n/a
12	EBF1	chr18:45379571-45379818	GM12878	blood:	n/a	n/a
13	EP300	chr18:45379570-45379875	GM12878	blood:	n/a	chr18:45379730-45379738
14	EP300	chr18:45379476-45379884	GM12878	blood:	n/a	chr18:45379730-45379738
15	FOSL2	chr18:45379435-45379868	HepG2	liver:	n/a	n/a
16	FOSL2	chr18:45379532-45379951	HepG2	liver:	n/a	n/a
17	FOXA1	chr18:45379410-45379974	HepG2	liver:	n/a	n/a
18	FOXM1	chr18:45379285-45379902	GM12878	blood:	n/a	n/a
19	FOXP2	chr18:45379574-45379815	PFSK-1	brain:	n/a	n/a
20	FOXP2	chr18:45379569-45379826	SK-N-MC	brain:	n/a	n/a
21	GABPA	chr18:45379577-45379806	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr18:45379484-45379838	Hela-S3	cervix:	n/a	n/a
23	GATA2	chr18:45379416-45379900	K562	blood:	n/a	n/a
24	HEY1	chr18:45379465-45379826	K562	blood:	n/a	n/a
25	HEY1	chr18:45379518-45379960	HepG2	liver:	n/a	n/a
26	HEY1	chr18:45379524-45379791	HepG2	liver:	n/a	n/a
27	IRF4	chr18:45379415-45379831	GM12878	blood:	n/a	n/a
28	IRF4	chr18:45379352-45379864	GM12878	blood:	n/a	n/a
29	JUND	chr18:45379594-45379775	HepG2	liver:	n/a	n/a
30	JUND	chr18:45379522-45379891	HepG2	liver:	n/a	n/a
31	NR2F2	chr18:45379391-45379950	K562	blood:	n/a	n/a
32	PAX5	chr18:45379567-45379799	GM12878	blood:	n/a	n/a
33	PAX5	chr18:45379523-45379812	GM12878	blood:	n/a	n/a
34	PAX5	chr18:45379329-45379963	GM12878	blood:	n/a	n/a
35	PAX5	chr18:45379498-45379820	GM12878	blood:	n/a	n/a
36	PBX3	chr18:45379541-45379820	GM12878	blood:	n/a	n/a
37	PBX3	chr18:45379584-45379784	GM12878	blood:	n/a	n/a
38	POLR2A	chr18:45378745-45378979	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr18:45379775-45379859	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr18:45379455-45379602	ProgFib	skin:	n/a	n/a
41	POLR2A	chr18:45379517-45379838	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr18:45379474-45379900	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:45379562-45379865	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr18:45379492-45379897	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr18:45379377-45380087	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr18:45379470-45379800	GM12878	blood:	n/a	n/a
47	POLR2A	chr18:45379486-45379900	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr18:45377363-45378789	K562	blood:	n/a	n/a
49	POLR2A	chr18:45379457-45379862	Hela-S3	cervix:	n/a	n/a
50	POU2F2	chr18:45379592-45379778	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000267541	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9955936	chr18:45378630-45378631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112176274	chr18:45378639-45378640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36020961	chr18:45378660-45378661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545033529	chr18:45378675-45378676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560052241	chr18:45378676-45378677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368196487	chr18:45378727-45378728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78594038	chr18:45378777-45378778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542385709	chr18:45378835-45378836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376461005	chr18:45378871-45378872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531793906	chr18:45378895-45378896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551625514	chr18:45378902-45378903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578085514	chr18:45378915-45378916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77827123	chr18:45378919-45378920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527717697	chr18:45378929-45378930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112284904	chr18:45379015-45379016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188345914	chr18:45379027-45379028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567928610	chr18:45379028-45379029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76325575	chr18:45379041-45379042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116574991	chr18:45379046-45379047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570193620	chr18:45379149-45379150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140296201	chr18:45379162-45379163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145667534	chr18:45379164-45379165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577551652	chr18:45379166-45379167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9946556	chr18:45379174-45379175	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs12956483	chr18:45379274-45379275	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs181249528	chr18:45379309-45379310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542524796	chr18:45379327-45379328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62086544	chr18:45379349-45379350	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs531454464	chr18:45379363-45379364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560375888	chr18:45379414-45379415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545467197	chr18:45379460-45379461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565198597	chr18:45379468-45379469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527804675	chr18:45379512-45379513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547764414	chr18:45379513-45379514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28548478	chr18:45379545-45379546	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs186701366	chr18:45379584-45379585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530408206	chr18:45379599-45379600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550541435	chr18:45379615-45379616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9630795	chr18:45379631-45379632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570209345	chr18:45379723-45379724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191485710	chr18:45379756-45379757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62086545	chr18:45379827-45379828	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182056543	chr18:45379830-45379831	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186314354	chr18:45379849-45379850	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs533646215	chr18:45379870-45379871	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs1787192	chr18:45379882-45379883	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367606303	chr18:45379895-45379896	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs72912362	chr18:45379937-45379938	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191070735	chr18:45379946-45379947	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536140356	chr18:45380013-45380014	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	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
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	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
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
4	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
6	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
7	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:45365800-45381800	Weak transcription	Psoas Muscle	Psoas
9	chr18:45366000-45381800	Weak transcription	Aorta	Aorta
10	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
11	chr18:45366400-45384000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:45366400-45384000	Weak transcription	Brain Angular Gyrus	brain
13	chr18:45366400-45384000	Weak transcription	Esophagus	oesophagus
14	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:45368200-45384000	Weak transcription	Stomach Mucosa	stomach
16	chr18:45369000-45381800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:45369200-45381200	Weak transcription	Brain Germinal Matrix	brain
18	chr18:45369600-45380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:45369600-45381800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:45369600-45382000	Weak transcription	Fetal Brain Female	brain
21	chr18:45369800-45383600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:45369800-45384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:45369800-45384000	Weak transcription	Fetal Stomach	stomach
24	chr18:45369800-45386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:45371600-45380400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:45371600-45381200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:45371800-45381200	Weak transcription	Brain Substantia Nigra	brain
28	chr18:45371800-45382000	Weak transcription	Fetal Heart	heart
29	chr18:45371800-45382200	Weak transcription	Fetal Brain Male	brain
30	chr18:45372000-45381400	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:45372000-45381800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:45372000-45384000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:45372200-45381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:45372200-45381800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr18:45372200-45381800	Weak transcription	Colon Smooth Muscle	Colon
36	chr18:45372200-45381800	Weak transcription	Lung	lung
37	chr18:45372200-45381800	Weak transcription	HSMMtube	muscle
38	chr18:45372200-45382400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:45372200-45386200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr18:45372200-45396000	Weak transcription	NHLF	lung
41	chr18:45372400-45381400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:45373000-45381800	Weak transcription	Placenta	Placenta
43	chr18:45373200-45381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:45373200-45381800	Weak transcription	Ovary	ovary
45	chr18:45373200-45381800	Weak transcription	Thymus	Thymus
46	chr18:45373200-45382000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr18:45373200-45382000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:45373200-45384000	Weak transcription	Gastric	stomach
49	chr18:45373200-45384000	Weak transcription	Pancreas	Pancrea
50	chr18:45373400-45381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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