Variant report

Variant	esv3460837
Chromosome Location	chr2:234624010-234634422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:234629390-234629729	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:234628602-234628886	IMR90	lung:	n/a	n/a
3	CEBPB	chr2:234628578-234628882	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:234629371-234629739	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:234629392-234629647	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:234629368-234629688	A549	lung:	n/a	n/a
7	CEBPB	chr2:234629469-234629743	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:234629399-234629733	A549	lung:	n/a	n/a
9	CEBPB	chr2:234629490-234629688	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:234624956-234625086	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:234629404-234629738	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:234629363-234629630	K562	blood:	n/a	n/a
13	CEBPB	chr2:234628590-234628882	A549	lung:	n/a	n/a
14	CEBPB	chr2:234629311-234629877	A549	lung:	n/a	chr2:234629859-234629872
15	CEBPB	chr2:234624825-234625037	A549	lung:	n/a	n/a
16	CEBPB	chr2:234629433-234629733	K562	blood:	n/a	n/a
17	CEBPB	chr2:234628666-234628788	K562	blood:	n/a	n/a
18	CTCF	chr2:234633791-234633838	Fibrobl	skin:	n/a	n/a
19	CTCF	chr2:234627360-234627510	HepG2	liver:	n/a	n/a
20	CTCF	chr2:234627300-234627450	GM12869	blood:	n/a	n/a
21	CUX1	chr2:234631146-234631218	GM12878	blood:	n/a	n/a
22	FOXA1	chr2:234634199-234634572	HepG2	liver:	n/a	chr2:234634375-234634390
23	GATA3	chr2:234630047-234630579	MCF-7	breast:	n/a	n/a
24	JUND	chr2:234625585-234625876	HepG2	liver:	n/a	chr2:234625732-234625741
25	MYC	chr2:234628255-234628318	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr2:234627988-234628011	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr2:234627691-234627751	H1-hESC	embryonic stem cell:	n/a	n/a
28	PAX5	chr2:234633548-234633936	GM12878	blood:	n/a	n/a
29	PAX5	chr2:234633586-234633890	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:234631611-234631697	MCF-7	breast:	n/a	n/a
31	POLR2A	chr2:234631621-234631652	MCF-7	breast:	n/a	n/a
32	POLR2A	chr2:234631612-234631636	K562	blood:	n/a	n/a
33	RUNX3	chr2:234629798-234630121	GM12878	blood:	n/a	chr2:234630069-234630078 chr2:234630069-234630078
34	RUNX3	chr2:234629888-234630122	GM12878	blood:	n/a	chr2:234630069-234630078 chr2:234630069-234630078
35	TCF7L2	chr2:234629668-234629968	HepG2	liver:	n/a	n/a
36	ZNF384	chr2:234629322-234629507	K562	blood:	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	chr2:234626351-234626401	SKMC	muscle:	n/a
2	chr2:234627401-234627451	HUVEC	blood vessel:	n/a
3	chr2:234627450-234627500	HCT-116	colon:	n/a
4	chr2:234626464-234626514	Hepatocyte	liver:	n/a
5	chr2:234626351-234626401	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:234626464-234626514	GM19239	blood:	n/a
7	chr2:234626351-234626401	HRE	kidney:	n/a
8	chr2:234626464-234626514	RPTEC	kidney:	n/a
9	chr2:234626084-234626134	Caco-2	colon:	n/a
10	chr2:234627401-234627451	PrEC	prostate:	n/a
11	chr2:234626464-234626514	NB4	blood:	n/a
12	chr2:234626351-234626401	HCPEpiC	choroid plexus:	n/a
13	chr2:234627401-234627451	GM12891	blood:	n/a
14	chr2:234627401-234627451	BE2_C	brain:	n/a
15	chr2:234626084-234626134	NHDF-neo	bronchial:	n/a
16	chr2:234626464-234626514	SK-N-MC	brain:	n/a
17	chr2:234627262-234627312	HCT-116	colon:	n/a
18	chr2:234627401-234627451	A549	lung:	n/a
19	chr2:234627450-234627500	HCF	heart:	n/a
20	chr2:234626464-234626514	HRPEpiC	eye:	n/a
21	chr2:234627401-234627451	HIPEpiC	eye:	n/a
22	chr2:234627401-234627451	PFSK-1	brain:	n/a
23	chr2:234626464-234626514	HAEpiC	amniotic membrane:	n/a
24	chr2:234627401-234627451	Hela-S3	cervix:	n/a
25	chr2:234627450-234627500	NHDF-neo	bronchial:	n/a
26	chr2:234627450-234627500	HEK293	kidney:	embryo
27	chr2:234627450-234627500	MCF10A-Er-Src	breast:	n/a
28	chr2:234626084-234626134	BJ	skin:	n/a
29	chr2:234626464-234626514	MCF10A-Er-Src	breast:	n/a
30	chr2:234627450-234627500	HCPEpiC	choroid plexus:	n/a
31	chr2:234626464-234626514	SK-N-SH	brain:	n/a
32	chr2:234627450-234627500	ovcar-3	ovarian:	n/a
33	chr2:234627450-234627500	PANC-1	pancreas:	n/a
34	chr2:234626351-234626401	Hela-S3	cervix:	n/a
35	chr2:234627262-234627312	GM19239	blood:	n/a
36	chr2:234626464-234626514	ovcar-3	ovarian:	n/a
37	chr2:234627401-234627451	GM12878	blood:	n/a
38	chr2:234627450-234627500	HRE	kidney:	n/a
39	chr2:234627262-234627312	SKMC	muscle:	n/a
40	chr2:234626464-234626514	IMR90	lung:	fetal
41	chr2:234626464-234626514	BE2_C	brain:	n/a
42	chr2:234626351-234626401	HMEC	breast:	n/a
43	chr2:234627401-234627451	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:234627262-234627312	H1-hESC	embryonic stem cell:	embryo
45	chr2:234626351-234626401	HUVEC	blood vessel:	n/a
46	chr2:234627262-234627312	BE2_C	brain:	n/a
47	chr2:234626464-234626514	GM12878	blood:	n/a
48	chr2:234627450-234627500	GM12891	blood:	n/a
49	chr2:234626084-234626134	Hepatocyte	liver:	n/a
50	chr2:234626464-234626514	HL-60	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HJURP-5	chr2:234630168-234630711	NONHSAT077506

No data

Variant related genes	Relation type
UGT1A4	TF binding region
UGT1A8	TF binding region
UGT1A3	TF binding region
RPL17P11	TF binding region
UGT1A4	CpG island
UGT1A8	CpG island
UGT1A3	CpG island
RPL17P11	CpG island

Extended variants
information (count: 497 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560578565	chr2:234624012-234624013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35623965	chr2:234624020-234624021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72084011	chr2:234624021-234624022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75182177	chr2:234624056-234624057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78297396	chr2:234624079-234624080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560027833	chr2:234624088-234624089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532391786	chr2:234624183-234624184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552112034	chr2:234624186-234624187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562671697	chr2:234624230-234624231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531738366	chr2:234624234-234624235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6749496	chr2:234624286-234624287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547065992	chr2:234624310-234624311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568505500	chr2:234624336-234624337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17862871	chr2:234624374-234624375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185880509	chr2:234624404-234624405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146761733	chr2:234624440-234624441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139277356	chr2:234624443-234624444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144113297	chr2:234624446-234624447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576558461	chr2:234624528-234624529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537598315	chr2:234624533-234624534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554442850	chr2:234624560-234624561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189079466	chr2:234624597-234624598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181027310	chr2:234624608-234624609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569588258	chr2:234624610-234624611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567298772	chr2:234624615-234624616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577493897	chr2:234624632-234624633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28898603	chr2:234624705-234624706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571033953	chr2:234624760-234624761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17868334	chr2:234624817-234624818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375271371	chr2:234624827-234624828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549319175	chr2:234624880-234624881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17863791	chr2:234624884-234624885	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116835228	chr2:234624888-234624889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs28948390	chr2:234624899-234624900	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188566072	chr2:234624909-234624910	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs17868335	chr2:234624983-234624984	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561710355	chr2:234624984-234624985	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs553481332	chr2:234624993-234624994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527757463	chr2:234625007-234625008	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376929517	chr2:234625113-234625114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369913199	chr2:234625126-234625127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371843932	chr2:234625134-234625135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570808128	chr2:234625178-234625179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17864696	chr2:234625194-234625195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550447368	chr2:234625208-234625209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181280282	chr2:234625213-234625214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145919800	chr2:234625228-234625229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17874943	chr2:234625239-234625240	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185923790	chr2:234625241-234625242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6744284	chr2:234625297-234625298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
3	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
4	chr2:234621400-234625800	Weak transcription	Liver	Liver
5	chr2:234621800-234626200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:234622200-234625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:234622200-234625600	Weak transcription	NHEK	skin
8	chr2:234622200-234627400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:234625000-234626400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:234625200-234626000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:234625400-234626000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:234625600-234626600	Strong transcription	NHEK	skin
13	chr2:234625800-234626600	Enhancers	Liver	Liver
14	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:234626200-234627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:234626600-234627200	Flanking Active TSS	Liver	Liver
18	chr2:234626600-234628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:234626600-234668400	Weak transcription	NHEK	skin
20	chr2:234627200-234627600	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:234627200-234630000	Active TSS	Liver	Liver
22	chr2:234627400-234627800	Enhancers	Fetal Intestine Small	intestine
23	chr2:234627600-234629000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:234627600-234637200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:234627800-234636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:234628600-234629000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr2:234630000-234630600	Flanking Active TSS	Liver	Liver
28	chr2:234630200-234630800	Enhancers	A549	lung
29	chr2:234630600-234630800	Active TSS	Liver	Liver
30	chr2:234630800-234631000	Flanking Active TSS	Liver	Liver
31	chr2:234630800-234634000	Weak transcription	A549	lung
32	chr2:234631000-234631400	Active TSS	Liver	Liver
33	chr2:234631400-234635800	Weak transcription	Liver	Liver
34	chr2:234633600-234634000	ZNF genes & repeats	Right Atrium	heart
35	chr2:234633800-234634000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:234634000-234634600	Enhancers	A549	lung

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