Variant report

Variant	esv3332273
Chromosome Location	chr2:234825310-234825891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:234825101-234825354	IMR90	lung:	n/a	chr2:234825248-234825259
2	CEBPB	chr2:234825137-234825381	HepG2	liver:	n/a	chr2:234825248-234825259
3	CEBPB	chr2:234825172-234825336	A549	lung:	n/a	chr2:234825248-234825259
4	CTCF	chr2:234825409-234825440	IMR90	lung:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234825859-234825909	ovcar-3	ovarian:	n/a
2	chr2:234825859-234825909	ovcar-3	ovarian:	n/a
3	chr2:234825859-234825909	SAEC	small airway:	n/a
4	chr2:234825859-234825909	ECC-1	luminal epithelium:	n/a
5	chr2:234825859-234825909	IMR90	lung:	fetal
6	chr2:234825859-234825909	HCF	heart:	n/a
7	chr2:234825859-234825909	Jurkat	blood:	n/a
8	chr2:234825859-234825909	HRCEpiC	kidney:	n/a
9	chr2:234825859-234825909	H1-hESC	embryonic stem cell:	embryo
10	chr2:234825859-234825909	GM12878	blood:	n/a
11	chr2:234825859-234825909	SKMC	muscle:	n/a
12	chr2:234825859-234825909	GM12891	blood:	n/a
13	chr2:234825859-234825909	Hepatocyte	liver:	n/a
14	chr2:234825859-234825909	HEK293	kidney:	embryo
15	chr2:234825859-234825909	HRE	kidney:	n/a
16	chr2:234825859-234825909	AG10803	skin:	n/a
17	chr2:234825859-234825909	HL-60	blood:	n/a
18	chr2:234825859-234825909	PANC-1	pancreas:	n/a
19	chr2:234825859-234825909	ProgFib	skin:	n/a
20	chr2:234825859-234825909	SK-N-SH_RA	brain:	n/a
21	chr2:234825859-234825909	NHDF-neo	bronchial:	n/a
22	chr2:234825859-234825909	GM06990	blood:	n/a
23	chr2:234825859-234825909	HMEC	breast:	n/a
24	chr2:234825859-234825909	HIPEpiC	eye:	n/a
25	chr2:234825859-234825909	LNCaP	prostate:	n/a
26	chr2:234825859-234825909	NT2-D1	testis:	n/a
27	chr2:234825859-234825909	HCT-116	colon:	n/a
28	chr2:234825859-234825909	BJ	skin:	n/a
29	chr2:234825859-234825909	HAEpiC	amniotic membrane:	n/a
30	chr2:234825859-234825909	HRPEpiC	eye:	n/a
31	chr2:234825859-234825909	NB4	blood:	n/a
32	chr2:234825859-234825909	Hela-S3	cervix:	n/a
33	chr2:234825859-234825909	AG04449	skin:	fetal
34	chr2:234825859-234825909	Caco-2	colon:	n/a
35	chr2:234825859-234825909	AG09319	gingival:	n/a
36	chr2:234825859-234825909	NH-A	brain:	n/a
37	chr2:234825859-234825909	HepG2	liver:	n/a
38	chr2:234825859-234825909	HEEpiC	esophagus:	n/a
39	chr2:234825859-234825909	HNPCEpiC	eye:	n/a
40	chr2:234825859-234825909	MCF-7	breast:	n/a
41	chr2:234825859-234825909	K562	blood:	n/a
42	chr2:234825859-234825909	A549	lung:	n/a
43	chr2:234825859-234825909	CMK	blood:	n/a
44	chr2:234825859-234825909	SK-N-SH	brain:	n/a
45	chr2:234825859-234825909	HUVEC	blood vessel:	n/a
46	chr2:234825859-234825909	T-47D	breast:	n/a
47	chr2:234825859-234825909	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:234825859-234825909	PFSK-1	brain:	n/a
49	chr2:234825859-234825909	NHBE	bronchial:	n/a
50	chr2:234825859-234825909	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234761504..234764477-chr2:234824983..234827662,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRPM8	TF binding region
TRPM8	CpG island
ENSG00000123485	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79251556	chr2:234825349-234825350	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2362290	chr2:234825369-234825370	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs552710636	chr2:234825391-234825392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573174686	chr2:234825396-234825397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28901599	chr2:234825406-234825407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572770153	chr2:234825454-234825455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544805566	chr2:234825473-234825474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575819665	chr2:234825482-234825483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543609196	chr2:234825546-234825547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9789675	chr2:234825559-234825560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34870473	chr2:234825585-234825586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529132258	chr2:234825591-234825592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9789398	chr2:234825624-234825625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544029858	chr2:234825654-234825655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9789366	chr2:234825662-234825663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529572445	chr2:234825688-234825689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551090146	chr2:234825754-234825755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547665668	chr2:234825783-234825784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536763302	chr2:234825859-234825860	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1003540	chr2:234825884-234825885	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs11690675	chr2:234825891-234825892	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	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
Ovarian cancer	21720365	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234825000-234825600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:234825000-234826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:234825000-234827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:234825600-234825800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:234825600-234826000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:234825800-234826000	Enhancers	Brain Germinal Matrix	brain
7	chr2:234825800-234826200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234825800-234826200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:234825800-234826200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr2:234825800-234826400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:234825800-234826600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:234825800-234826600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links