Variant report

Variant	esv3352165
Chromosome Location	chr2:233700915-233701087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:233700651-233700922	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552689864	chr2:233700916-233700917	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368963199	chr2:233700922-233700923	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572586791	chr2:233700953-233700954	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373569887	chr2:233700954-233700955	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12988087	chr2:233700977-233700978	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189301232	chr2:233700985-233700986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182273005	chr2:233700986-233700987	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368032868	chr2:233700990-233700991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368624859	chr2:233700991-233700992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372354986	chr2:233700992-233700993	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564954086	chr2:233700995-233700996	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530690836	chr2:233700996-233700997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376421862	chr2:233700998-233700999	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544183578	chr2:233700999-233701000	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369686924	chr2:233701000-233701001	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75756517	chr2:233701004-233701005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12988271	chr2:233701005-233701006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13011635	chr2:233701006-233701007	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372522150	chr2:233701009-233701010	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375174062	chr2:233701015-233701016	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12988286	chr2:233701023-233701024	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369235507	chr2:233701025-233701026	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12988291	chr2:233701029-233701030	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373211143	chr2:233701031-233701032	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376677775	chr2:233701033-233701034	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7582771	chr2:233701037-233701038	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12988299	chr2:233701039-233701040	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2344616	chr2:233701041-233701042	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12988302	chr2:233701045-233701046	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369860388	chr2:233701046-233701047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548576660	chr2:233701059-233701060	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373497031	chr2:233701060-233701061	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3062095	chr2:233701086-233701087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:233669400-233703600	Strong transcription	Liver	Liver
5	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:233670200-233702600	Strong transcription	HepG2	liver
7	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:233684400-233702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:233687600-233702400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:233687800-233701600	Strong transcription	Fetal Thymus	thymus
12	chr2:233688000-233702400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:233688600-233701600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:233691200-233717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:233692000-233702600	Strong transcription	Primary T cells from cord blood	blood
18	chr2:233692800-233702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:233693000-233702000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:233693800-233701800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:233693800-233702600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:233693800-233702600	Strong transcription	Placenta	Placenta
23	chr2:233694000-233701800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:233694200-233701600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:233694200-233702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:233694200-233702200	Strong transcription	Primary B cells from cord blood	blood
27	chr2:233694200-233702200	Strong transcription	Fetal Lung	lung
28	chr2:233694200-233702400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:233694200-233702800	Strong transcription	Adipose Nuclei	Adipose
30	chr2:233694200-233703000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:233694200-233703000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:233694200-233703800	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:233694400-233701200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:233694400-233701800	Strong transcription	GM12878-XiMat	blood
35	chr2:233694400-233702000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:233694400-233702000	Strong transcription	Ovary	ovary
37	chr2:233694400-233703200	Strong transcription	Fetal Brain Female	brain
38	chr2:233694800-233701600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:233694800-233701800	Strong transcription	Spleen	Spleen
40	chr2:233694800-233702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:233694800-233702200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:233694800-233703000	Strong transcription	Thymus	Thymus
43	chr2:233695000-233701600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:233695000-233701600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:233695000-233702200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:233695000-233703200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:233695200-233702600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:233695200-233702800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:233695400-233701600	Strong transcription	Esophagus	oesophagus
50	chr2:233695400-233705600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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