Variant report

Variant	esv3436886
Chromosome Location	chr2:181925607-181926655
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	RFX5	chr2:181926246-181926504	K562	blood:	n/a	chr2:181926328-181926337

Variant related genes	Relation type
UBE2E3	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71029902	chr2:181925607-181925608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77487058	chr2:181925610-181925611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576365384	chr2:181925614-181925615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13395420	chr2:181925633-181925634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115292962	chr2:181925637-181925638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199933194	chr2:181925657-181925658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13395431	chr2:181925658-181925659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13395513	chr2:181925711-181925712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2292856	chr2:181925714-181925715	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568407236	chr2:181925721-181925722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187076154	chr2:181925741-181925742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2292855	chr2:181925785-181925786	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377547273	chr2:181925817-181925818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528681861	chr2:181925837-181925838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199514773	chr2:181925838-181925839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538722012	chr2:181925839-181925840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559031474	chr2:181925840-181925841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569305974	chr2:181925841-181925842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12989009	chr2:181925860-181925861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556369716	chr2:181925935-181925936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13013038	chr2:181926006-181926007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199943648	chr2:181926141-181926142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200731223	chr2:181926143-181926144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201868564	chr2:181926144-181926145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199896399	chr2:181926145-181926146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201031159	chr2:181926146-181926147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202209429	chr2:181926147-181926148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200075756	chr2:181926149-181926150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190566031	chr2:181926150-181926151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554832062	chr2:181926158-181926159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143562793	chr2:181926169-181926170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3215269	chr2:181926233-181926234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182849505	chr2:181926240-181926241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372373335	chr2:181926320-181926321	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369490208	chr2:181926335-181926336	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553455408	chr2:181926337-181926338	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs141736726	chr2:181926345-181926346	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs13395974	chr2:181926365-181926366	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10177379	chr2:181926377-181926378	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148511704	chr2:181926437-181926438	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543861838	chr2:181926488-181926489	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs58811030	chr2:181926503-181926504	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs398080865	chr2:181926515-181926516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187190872	chr2:181926542-181926543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142857662	chr2:181926566-181926567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72885290	chr2:181926580-181926581	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561940432	chr2:181926594-181926595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527616948	chr2:181926596-181926597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181902200-181926400	Weak transcription	HSMM	muscle
2	chr2:181902800-181934200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:181903800-181934600	Weak transcription	NH-A	brain
4	chr2:181904400-181934000	Weak transcription	NHDF-Ad	bronchial
5	chr2:181904400-181945400	Weak transcription	Left Ventricle	heart
6	chr2:181911000-181928400	Weak transcription	Fetal Lung	lung
7	chr2:181911800-181940400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:181912400-181941400	Weak transcription	Esophagus	oesophagus
9	chr2:181912600-181928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:181913800-181938400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:181915800-181928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:181917200-181928600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:181917200-181929000	Weak transcription	Primary B cells from cord blood	blood
14	chr2:181917200-181931000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:181917200-181934200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:181917400-181928200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:181917600-181928400	Weak transcription	K562	blood
18	chr2:181917600-181934400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:181917600-181936800	Weak transcription	NHLF	lung
20	chr2:181917600-181937600	Weak transcription	Fetal Thymus	thymus
21	chr2:181917800-181926400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:181917800-181930800	Weak transcription	GM12878-XiMat	blood
23	chr2:181917800-181934200	Weak transcription	Psoas Muscle	Psoas
24	chr2:181917800-181935600	Weak transcription	Liver	Liver
25	chr2:181918000-181938200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:181919200-181929600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:181919600-181927400	Weak transcription	Osteobl	bone
28	chr2:181919600-181934400	Weak transcription	HUVEC	blood vessel
29	chr2:181919800-181929800	Weak transcription	Fetal Heart	heart
30	chr2:181919800-181930000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:181919800-181931000	Weak transcription	Stomach Mucosa	stomach
32	chr2:181919800-181934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:181919800-181934400	Weak transcription	NHEK	skin
34	chr2:181920000-181928400	Weak transcription	HMEC	breast
35	chr2:181920000-181934400	Weak transcription	A549	lung
36	chr2:181920200-181926200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:181920200-181926400	Weak transcription	Dnd41	blood
38	chr2:181920200-181934200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:181920400-181934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:181920800-181949800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:181921600-181927200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:181921600-181931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:181921600-181934200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:181921600-181934400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:181921800-181927200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:181921800-181928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:181921800-181931400	Weak transcription	Fetal Kidney	kidney
48	chr2:181922000-181942400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:181922200-181937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:181922800-181938200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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