Variant report

Variant	esv3448604
Chromosome Location	chr2:234622257-234628221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:234624956-234625086	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:234624825-234625037	A549	lung:	n/a	n/a
3	CTCF	chr2:234627300-234627450	GM12869	blood:	n/a	n/a
4	CTCF	chr2:234622500-234622650	GM12872	blood:	n/a	n/a
5	CTCF	chr2:234627360-234627510	HepG2	liver:	n/a	n/a
6	CTCF	chr2:234622400-234622445	Lung_OC	lung:	n/a	n/a
7	JUND	chr2:234625585-234625876	HepG2	liver:	n/a	chr2:234625732-234625741
8	MAFK	chr2:234622806-234623006	HepG2	liver:	n/a	n/a
9	MYC	chr2:234627988-234628011	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr2:234627691-234627751	H1-hESC	embryonic stem cell:	n/a	n/a
11	NR3C1	chr2:234622012-234622437	A549	lung:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234627262-234627312	PrEC	prostate:	n/a
2	chr2:234626084-234626134	HCT-116	colon:	n/a
3	chr2:234626464-234626514	GM12892	blood:	n/a
4	chr2:234626351-234626401	HIPEpiC	eye:	n/a
5	chr2:234627401-234627451	K562	blood:	n/a
6	chr2:234626084-234626134	PANC-1	pancreas:	n/a
7	chr2:234627401-234627451	ovcar-3	ovarian:	n/a
8	chr2:234626464-234626514	ProgFib	skin:	n/a
9	chr2:234627262-234627312	NB4	blood:	n/a
10	chr2:234627450-234627500	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:234627401-234627451	Hela-S3	cervix:	n/a
12	chr2:234626084-234626134	HRE	kidney:	n/a
13	chr2:234627401-234627451	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:234626351-234626401	HepG2	liver:	n/a
15	chr2:234626084-234626134	GM12892	blood:	n/a
16	chr2:234626464-234626514	Caco-2	colon:	n/a
17	chr2:234626084-234626134	HEEpiC	esophagus:	n/a
18	chr2:234626084-234626134	MCF-7	breast:	n/a
19	chr2:234627450-234627500	GM12878	blood:	n/a
20	chr2:234627450-234627500	NB4	blood:	n/a
21	chr2:234627450-234627500	T-47D	breast:	n/a
22	chr2:234626464-234626514	HCT-116	colon:	n/a
23	chr2:234626351-234626401	PANC-1	pancreas:	n/a
24	chr2:234626351-234626401	SKMC	muscle:	n/a
25	chr2:234626084-234626134	LNCaP	prostate:	n/a
26	chr2:234627262-234627312	AoSMC	blood vessel:	n/a
27	chr2:234626084-234626134	BE2_C	brain:	n/a
28	chr2:234626351-234626401	HCPEpiC	choroid plexus:	n/a
29	chr2:234626464-234626514	MCF10A-Er-Src	breast:	n/a
30	chr2:234627401-234627451	GM19239	blood:	n/a
31	chr2:234627401-234627451	Hepatocyte	liver:	n/a
32	chr2:234626084-234626134	HAEpiC	amniotic membrane:	n/a
33	chr2:234627450-234627500	ovcar-3	ovarian:	n/a
34	chr2:234627262-234627312	HCM	heart:	n/a
35	chr2:234626464-234626514	SK-N-SH	brain:	n/a
36	chr2:234626084-234626134	SK-N-SH	brain:	n/a
37	chr2:234627450-234627500	SKMC	muscle:	n/a
38	chr2:234627262-234627312	H1-hESC	embryonic stem cell:	embryo
39	chr2:234627450-234627500	GM12892	blood:	n/a
40	chr2:234627401-234627451	LNCaP	prostate:	n/a
41	chr2:234626464-234626514	GM12891	blood:	n/a
42	chr2:234627450-234627500	MCF10A-Er-Src	breast:	n/a
43	chr2:234627450-234627500	HepG2	liver:	n/a
44	chr2:234626464-234626514	U87	brain:	n/a
45	chr2:234627450-234627500	LNCaP	prostate:	n/a
46	chr2:234627450-234627500	NHDF-neo	bronchial:	n/a
47	chr2:234627262-234627312	GM19239	blood:	n/a
48	chr2:234627450-234627500	NT2-D1	testis:	n/a
49	chr2:234626351-234626401	AG04449	skin:	fetal
50	chr2:234626464-234626514	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A4	TF binding region
ENSG00000224814	TF binding region
UGT1A4	CpG island
ENSG00000224814	CpG island
ENSG00000224814	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:344 , 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	rs72551335	chr2:234622258-234622259	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374147519	chr2:234622261-234622262	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187561805	chr2:234622276-234622277	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs17868333	chr2:234622282-234622283	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149715967	chr2:234622289-234622290	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17863790	chr2:234622294-234622295	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376312935	chr2:234622304-234622305	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17862867	chr2:234622310-234622311	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200994534	chr2:234622316-234622317	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369685158	chr2:234622332-234622333	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544563769	chr2:234622340-234622341	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561558353	chr2:234622349-234622350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28946887	chr2:234622359-234622360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191146485	chr2:234622360-234622361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549143838	chr2:234622368-234622369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2012736	chr2:234622379-234622380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17862868	chr2:234622382-234622383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138898755	chr2:234622388-234622389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs137952543	chr2:234622390-234622391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145951104	chr2:234622409-234622410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377333605	chr2:234622410-234622411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3892170	chr2:234622412-234622413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17862869	chr2:234622420-234622421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2012734	chr2:234622429-234622430	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371219022	chr2:234622441-234622442	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537377644	chr2:234622456-234622457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147668404	chr2:234622464-234622465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149208140	chr2:234622486-234622487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374502010	chr2:234622514-234622515	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182934742	chr2:234622530-234622531	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552702165	chr2:234622549-234622550	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186890365	chr2:234622561-234622562	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191784973	chr2:234622618-234622619	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562772168	chr2:234622630-234622631	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141549280	chr2:234622676-234622677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575529005	chr2:234622721-234622722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17862870	chr2:234622742-234622743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561415823	chr2:234622755-234622756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575148035	chr2:234622761-234622762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs869462	chr2:234622762-234622763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548246419	chr2:234622793-234622794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368814917	chr2:234622856-234622857	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533921127	chr2:234622872-234622873	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560631891	chr2:234622882-234622883	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374255632	chr2:234622912-234622913	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551165794	chr2:234622932-234622933	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs45600634	chr2:234622947-234622948	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147538599	chr2:234622980-234622981	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530414366	chr2:234622996-234622997	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs4663945	chr2:234623117-234623118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234619800-234623000	Enhancers	Thymus	Thymus
3	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
4	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
5	chr2:234621400-234625800	Weak transcription	Liver	Liver
6	chr2:234621800-234622600	Weak transcription	A549	lung
7	chr2:234621800-234626200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:234622200-234625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:234622200-234625600	Weak transcription	NHEK	skin
10	chr2:234622200-234627400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:234622600-234623200	Enhancers	A549	lung
12	chr2:234623000-234623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:234625000-234626400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:234625200-234626000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:234625400-234626000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:234625600-234626600	Strong transcription	NHEK	skin
17	chr2:234625800-234626600	Enhancers	Liver	Liver
18	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:234626200-234627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:234626600-234627200	Flanking Active TSS	Liver	Liver
22	chr2:234626600-234628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:234626600-234668400	Weak transcription	NHEK	skin
24	chr2:234627200-234627600	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:234627200-234630000	Active TSS	Liver	Liver
26	chr2:234627400-234627800	Enhancers	Fetal Intestine Small	intestine
27	chr2:234627600-234629000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234627600-234637200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:234627800-234636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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