Variant report

Variant	esv3444783
Chromosome Location	chr2:233700258-233702206
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
2	POLR2A	chr2:233701746-233701784	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:233700383-233700630	HUVEC	blood vessel:	n/a	n/a
4	ZNF384	chr2:233701248-233701353	K562	blood:	n/a	n/a

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141631922	chr2:233700261-233700262	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192826722	chr2:233700286-233700287	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113823087	chr2:233700287-233700288	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563161824	chr2:233700302-233700303	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534541460	chr2:233700342-233700343	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs60502835	chr2:233700378-233700379	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs7558609	chr2:233700379-233700380	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11884898	chr2:233700389-233700390	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558975092	chr2:233700395-233700396	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571647918	chr2:233700397-233700398	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528314354	chr2:233700427-233700428	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551151586	chr2:233700433-233700434	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs543691879	chr2:233700445-233700446	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184872111	chr2:233700452-233700453	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs115523014	chr2:233700455-233700456	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188810775	chr2:233700480-233700481	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567561926	chr2:233700483-233700484	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200171417	chr2:233700512-233700513	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs73997559	chr2:233700573-233700574	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529601045	chr2:233700584-233700585	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113707255	chr2:233700609-233700610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs74395302	chr2:233700626-233700627	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs149856653	chr2:233700638-233700639	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374733913	chr2:233700641-233700642	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559454598	chr2:233700645-233700646	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192019606	chr2:233700694-233700695	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs528176619	chr2:233700788-233700789	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112303736	chr2:233700795-233700796	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538174881	chr2:233700813-233700814	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs555201306	chr2:233700851-233700852	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573302962	chr2:233700886-233700887	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541670419	chr2:233700891-233700892	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373663611	chr2:233700893-233700894	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552689864	chr2:233700916-233700917	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs368963199	chr2:233700922-233700923	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs572586791	chr2:233700953-233700954	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373569887	chr2:233700954-233700955	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12988087	chr2:233700977-233700978	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189301232	chr2:233700985-233700986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182273005	chr2:233700986-233700987	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368032868	chr2:233700990-233700991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368624859	chr2:233700991-233700992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372354986	chr2:233700992-233700993	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564954086	chr2:233700995-233700996	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530690836	chr2:233700996-233700997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376421862	chr2:233700998-233700999	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544183578	chr2:233700999-233701000	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369686924	chr2:233701000-233701001	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75756517	chr2:233701004-233701005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12988271	chr2:233701005-233701006	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:280 , 50 per page) page: 1 2 3 4 5 6

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	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
8	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:233684400-233702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:233687000-233700400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:233687600-233702400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:233687800-233701600	Strong transcription	Fetal Thymus	thymus
14	chr2:233688000-233702400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:233688600-233701600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:233691200-233717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:233692000-233702600	Strong transcription	Primary T cells from cord blood	blood
20	chr2:233692800-233702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:233693000-233702000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:233693200-233700400	Strong transcription	Dnd41	blood
23	chr2:233693200-233700400	Strong transcription	Osteobl	bone
24	chr2:233693200-233700600	Strong transcription	Brain Germinal Matrix	brain
25	chr2:233693800-233701800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:233693800-233702600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:233693800-233702600	Strong transcription	Placenta	Placenta
28	chr2:233694000-233700800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:233694000-233701800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:233694200-233700400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:233694200-233700800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:233694200-233700800	Strong transcription	NH-A	brain
33	chr2:233694200-233701600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:233694200-233702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:233694200-233702200	Strong transcription	Primary B cells from cord blood	blood
36	chr2:233694200-233702200	Strong transcription	Fetal Lung	lung
37	chr2:233694200-233702400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:233694200-233702800	Strong transcription	Adipose Nuclei	Adipose
39	chr2:233694200-233703000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:233694200-233703000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:233694200-233703800	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:233694400-233700400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:233694400-233701200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:233694400-233701800	Strong transcription	GM12878-XiMat	blood
45	chr2:233694400-233702000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:233694400-233702000	Strong transcription	Ovary	ovary
47	chr2:233694400-233703200	Strong transcription	Fetal Brain Female	brain
48	chr2:233694600-233700800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:233694800-233700600	Strong transcription	NHDF-Ad	bronchial
50	chr2:233694800-233701600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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