Variant report

Variant	esv3382515
Chromosome Location	chr2:234620643-234626555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:427)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:234619957-234620684	A549	lung:	n/a	chr2:234620657-234620664 chr2:234620407-234620416
2	CEBPB	chr2:234624825-234625037	A549	lung:	n/a	n/a
3	CEBPB	chr2:234624956-234625086	HepG2	liver:	n/a	n/a
4	CTCF	chr2:234621669-234621880	HepG2	liver:	n/a	n/a
5	CTCF	chr2:234621669-234621820	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:234621060-234621210	AG09319	gingival:	n/a	n/a
7	CTCF	chr2:234620840-234620990	GM12864	blood:	n/a	n/a
8	CTCF	chr2:234619924-234620646	SK-N-SH	brain:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
9	CTCF	chr2:234621734-234621761	K562	blood:	n/a	n/a
10	CTCF	chr2:234621660-234621810	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr2:234621753-234621759	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:234621620-234621770	HepG2	liver:	n/a	n/a
13	CTCF	chr2:234622400-234622445	Lung_OC	lung:	n/a	n/a
14	CTCF	chr2:234618797-234620924	A549	lung:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
15	CTCF	chr2:234622500-234622650	GM12872	blood:	n/a	n/a
16	CTCF	chr2:234621200-234621350	GM12871	blood:	n/a	n/a
17	JUND	chr2:234625585-234625876	HepG2	liver:	n/a	chr2:234625732-234625741
18	MAFK	chr2:234622806-234623006	HepG2	liver:	n/a	n/a
19	MAX	chr2:234619991-234620672	A549	lung:	n/a	n/a
20	MAX	chr2:234619563-234620672	A549	lung:	n/a	n/a
21	NR3C1	chr2:234622012-234622437	A549	lung:	n/a	n/a
22	RAD21	chr2:234619823-234620662	A549	lung:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234622113-234622163	HAEpiC	amniotic membrane:	n/a
2	chr2:234626464-234626514	GM19239	blood:	n/a
3	chr2:234626084-234626134	Jurkat	blood:	n/a
4	chr2:234621621-234621671	ovcar-3	ovarian:	n/a
5	chr2:234621440-234621490	CMK	blood:	n/a
6	chr2:234621440-234621490	ECC-1	luminal epithelium:	n/a
7	chr2:234622113-234622163	HL-60	blood:	n/a
8	chr2:234622113-234622163	LNCaP	prostate:	n/a
9	chr2:234621572-234621622	AG04450	lung:	fetal
10	chr2:234622113-234622163	GM12891	blood:	n/a
11	chr2:234621440-234621490	BE2_C	brain:	n/a
12	chr2:234622113-234622163	PANC-1	pancreas:	n/a
13	chr2:234626464-234626514	BJ	skin:	n/a
14	chr2:234626084-234626134	NH-A	brain:	n/a
15	chr2:234621621-234621671	SAEC	small airway:	n/a
16	chr2:234622113-234622163	HEEpiC	esophagus:	n/a
17	chr2:234621621-234621671	SK-N-MC	brain:	n/a
18	chr2:234621572-234621622	PFSK-1	brain:	n/a
19	chr2:234621440-234621490	GM06990	blood:	n/a
20	chr2:234626464-234626514	HCPEpiC	choroid plexus:	n/a
21	chr2:234621440-234621490	LNCaP	prostate:	n/a
22	chr2:234622113-234622163	HRCEpiC	kidney:	n/a
23	chr2:234626084-234626134	AG04450	lung:	fetal
24	chr2:234621440-234621490	SK-N-SH	brain:	n/a
25	chr2:234621572-234621622	HRE	kidney:	n/a
26	chr2:234621621-234621671	LNCaP	prostate:	n/a
27	chr2:234626351-234626401	HRE	kidney:	n/a
28	chr2:234626351-234626401	Hepatocyte	liver:	n/a
29	chr2:234621572-234621622	NT2-D1	testis:	n/a
30	chr2:234626351-234626401	NHDF-neo	bronchial:	n/a
31	chr2:234626351-234626401	AoSMC	blood vessel:	n/a
32	chr2:234621440-234621490	SK-N-MC	brain:	n/a
33	chr2:234621572-234621622	SAEC	small airway:	n/a
34	chr2:234621440-234621490	K562	blood:	n/a
35	chr2:234626351-234626401	PFSK-1	brain:	n/a
36	chr2:234626351-234626401	HEEpiC	esophagus:	n/a
37	chr2:234622113-234622163	BJ	skin:	n/a
38	chr2:234621440-234621490	HNPCEpiC	eye:	n/a
39	chr2:234626084-234626134	GM12878	blood:	n/a
40	chr2:234626351-234626401	IMR90	lung:	fetal
41	chr2:234626464-234626514	LNCaP	prostate:	n/a
42	chr2:234621572-234621622	PANC-1	pancreas:	n/a
43	chr2:234626084-234626134	GM12891	blood:	n/a
44	chr2:234626464-234626514	HRPEpiC	eye:	n/a
45	chr2:234621621-234621671	HNPCEpiC	eye:	n/a
46	chr2:234621621-234621671	NHDF-neo	bronchial:	n/a
47	chr2:234622113-234622163	Jurkat	blood:	n/a
48	chr2:234621621-234621671	CMK	blood:	n/a
49	chr2:234621621-234621671	Jurkat	blood:	n/a
50	chr2:234621440-234621490	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234357834..234358362-chr2:234619860..234620685,2	MCF-7	breast:
2	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
3	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
4	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
5	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:
6	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
7	chr2:234366581..234368147-chr2:234619420..234621425,2	MCF-7	breast:
8	chr2:234389181..234390135-chr2:234619766..234620786,6	MCF-7	breast:
9	chr2:234356803..234357518-chr2:234620184..234620760,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A4	TF binding region
ENSG00000224814	TF binding region
UGT1A5	TF binding region
UGT1A8	TF binding region
UGT1A4	CpG island
ENSG00000224814	CpG island
UGT1A5	CpG island
UGT1A8	CpG island
ENSG00000085982	chromatin interactions
ENSG00000077044	chromatin interactions
ENSG00000167165	chromatin interactions
ENSG00000224814	chromatin interactions

Extended variants
information (count: 335 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561891782	chr2:234620653-234620654	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs527478948	chr2:234620662-234620663	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs28898597	chr2:234620667-234620668	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564582261	chr2:234620678-234620679	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs35531028	chr2:234620725-234620726	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs533419380	chr2:234620769-234620770	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs28898598	chr2:234620823-234620824	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144263331	chr2:234620839-234620840	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs184398589	chr2:234620890-234620891	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs549632113	chr2:234620901-234620902	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs3893334	chr2:234620917-234620918	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147382536	chr2:234620934-234620935	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs189228141	chr2:234620946-234620947	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs543442392	chr2:234620970-234620971	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs557882135	chr2:234620976-234620977	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs545397552	chr2:234620985-234620986	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs45489204	chr2:234621030-234621031	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375136086	chr2:234621033-234621034	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2013030	chr2:234621040-234621041	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs2013021	chr2:234621086-234621087	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575970867	chr2:234621132-234621133	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372173609	chr2:234621141-234621142	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs142524718	chr2:234621142-234621143	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs2013018	chr2:234621157-234621158	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541231437	chr2:234621178-234621179	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs34726073	chr2:234621202-234621203	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs151006364	chr2:234621253-234621254	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs5020121	chr2:234621269-234621270	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184142486	chr2:234621285-234621286	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs550235910	chr2:234621335-234621336	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs202230565	chr2:234621390-234621391	Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs386656365	chr2:234621391-234621392	Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563563892	chr2:234621392-234621393	Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs45588236	chr2:234621395-234621396	Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28898599	chr2:234621401-234621402	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4556969	chr2:234621404-234621405	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566033271	chr2:234621411-234621412	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28898600	chr2:234621436-234621437	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551571775	chr2:234621441-234621442	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs181271585	chr2:234621453-234621454	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs11689628	chr2:234621488-234621489	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556220136	chr2:234621489-234621490	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575994883	chr2:234621511-234621512	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535442696	chr2:234621513-234621514	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs555357132	chr2:234621524-234621525	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185804410	chr2:234621572-234621573	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs367897859	chr2:234621586-234621587	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs541299523	chr2:234621592-234621593	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs374838145	chr2:234621595-234621596	Strong transcription Weak transcription Enhancers ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs367675101	chr2:234621600-234621601	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234618600-234621400	Enhancers	Liver	Liver
3	chr2:234619800-234623000	Enhancers	Thymus	Thymus
4	chr2:234620000-234621200	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:234620000-234621400	Enhancers	Small Intestine	intestine
6	chr2:234620000-234621400	Enhancers	A549	lung
7	chr2:234620000-234622200	Enhancers	Fetal Intestine Large	intestine
8	chr2:234620200-234622200	Enhancers	Fetal Intestine Small	intestine
9	chr2:234620400-234620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234620400-234622200	Strong transcription	NHEK	skin
11	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
12	chr2:234620600-234621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:234620600-234622200	Weak transcription	Pancreas	Pancrea
14	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
15	chr2:234620800-234621800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:234621200-234621400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr2:234621400-234621600	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:234621400-234621800	ZNF genes & repeats	A549	lung
19	chr2:234621400-234625800	Weak transcription	Liver	Liver
20	chr2:234621600-234621800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr2:234621600-234622200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:234621800-234622000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:234621800-234622600	Weak transcription	A549	lung
24	chr2:234621800-234626200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:234622200-234625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:234622200-234625600	Weak transcription	NHEK	skin
27	chr2:234622200-234627400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:234622600-234623200	Enhancers	A549	lung
29	chr2:234623000-234623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:234625000-234626400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:234625200-234626000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:234625400-234626000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:234625600-234626600	Strong transcription	NHEK	skin
34	chr2:234625800-234626600	Enhancers	Liver	Liver
35	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:234626200-234627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum

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