Variant report

Variant	esv1793058
Chromosome Location	chr2:96553765-96583121
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	BHLHE40	chr2:96557498-96557706	HepG2	liver:	n/a	n/a
2	BRCA1	chr2:96577237-96577420	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
4	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
8	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
9	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
10	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
11	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
12	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
14	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
16	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:96560402-96560620	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
18	FOS	chr2:96580963-96581274	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
19	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr2:96560409-96560601	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
21	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:96560296-96560618	HUVEC	blood vessel:	n/a	chr2:96560498-96560509
23	FOS	chr2:96577088-96577789	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:96580933-96581340	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
25	FOS	chr2:96560290-96560623	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
26	FOS	chr2:96580931-96581305	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
27	FOS	chr2:96579028-96579391	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:96560416-96560602	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
30	FOS	chr2:96582747-96583240	HUVEC	blood vessel:	n/a	chr2:96582941-96582952
31	FOS	chr2:96579034-96579235	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:96577082-96577544	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:96580941-96581427	HUVEC	blood vessel:	n/a	chr2:96581078-96581089
34	FOS	chr2:96580972-96581165	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
35	FOS	chr2:96556602-96556919	HUVEC	blood vessel:	n/a	chr2:96556763-96556774
36	FOS	chr2:96577185-96577670	HUVEC	blood vessel:	n/a	n/a
37	FOSL2	chr2:96570191-96570497	HepG2	liver:	n/a	n/a
38	FOSL2	chr2:96577136-96577604	A549	lung:	n/a	n/a
39	FOSL2	chr2:96566945-96567320	HepG2	liver:	n/a	n/a
40	FOSL2	chr2:96572561-96572936	HepG2	liver:	n/a	n/a
41	FOSL2	chr2:96564494-96564780	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:96558987-96559269	HepG2	liver:	n/a	n/a
43	FOSL2	chr2:96558444-96558688	HepG2	liver:	n/a	n/a
44	FOSL2	chr2:96575260-96575525	HepG2	liver:	n/a	n/a
45	FOSL2	chr2:96577169-96577501	SK-N-SH	brain:	n/a	n/a
46	FOSL2	chr2:96575599-96576008	HepG2	liver:	n/a	n/a
47	FOSL2	chr2:96580961-96581260	A549	lung:	n/a	n/a
48	FOSL2	chr2:96570110-96570396	HepG2	liver:	n/a	n/a
49	FOSL2	chr2:96575775-96576066	HepG2	liver:	n/a	n/a
50	FOSL2	chr2:96564575-96564881	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-5	chr2:96559198-96559313	ucscGeneNc_uc002swd_1
2	lnc-GPAT2-5	chr2:96561691-96561770	ucscGeneNc_uc002swd_1
3	lnc-GPAT2-5	chr2:96557405-96557647	ucscGeneNc_uc002swd_1

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 1051 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4907218	chr2:96553772-96553773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs185925771	chr2:96553816-96553817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377208642	chr2:96553828-96553829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534558499	chr2:96553831-96553832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558141147	chr2:96553834-96553835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3210372	chr2:96553860-96553861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577956365	chr2:96553925-96553926	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537581472	chr2:96553932-96553933	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557159658	chr2:96554097-96554098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574150457	chr2:96554147-96554148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543267705	chr2:96554193-96554194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370231963	chr2:96554232-96554233	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148030840	chr2:96554265-96554266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573590317	chr2:96554333-96554334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545705401	chr2:96554358-96554359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564152841	chr2:96554361-96554362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532767436	chr2:96554411-96554412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201437130	chr2:96554448-96554449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558065549	chr2:96554452-96554453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199913234	chr2:96554487-96554488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563253002	chr2:96554494-96554495	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201013185	chr2:96554556-96554557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202096438	chr2:96554571-96554572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200432088	chr2:96554577-96554578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569865943	chr2:96554607-96554608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141803341	chr2:96554609-96554610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190639783	chr2:96554690-96554691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534648849	chr2:96554700-96554701	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376247594	chr2:96554739-96554740	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571650349	chr2:96554822-96554823	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113470069	chr2:96554827-96554828	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11689832	chr2:96554851-96554852	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs113228551	chr2:96554852-96554853	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557299040	chr2:96554869-96554870	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567767251	chr2:96554926-96554927	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536706684	chr2:96554934-96554935	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553645877	chr2:96554948-96554949	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573470671	chr2:96555046-96555047	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545710145	chr2:96555100-96555101	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182563095	chr2:96555111-96555112	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575857555	chr2:96555124-96555125	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543072094	chr2:96555135-96555136	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563248183	chr2:96555160-96555161	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528964609	chr2:96555183-96555184	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542303874	chr2:96555203-96555204	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35351605	chr2:96555332-96555333	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559151889	chr2:96555355-96555356	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35278032	chr2:96555357-96555358	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147225281	chr2:96555372-96555373	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202097345	chr2:96555444-96555445	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:96502800-96555200	Weak transcription	Ovary	ovary
3	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
4	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
5	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:96526600-96555200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:96526800-96555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:96526800-96557600	Weak transcription	NHDF-Ad	bronchial
11	chr2:96527800-96554000	Weak transcription	HUVEC	blood vessel
12	chr2:96528600-96555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:96528600-96560000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:96530600-96555200	Weak transcription	Fetal Brain Female	brain
15	chr2:96531200-96557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:96533000-96558000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:96541000-96555200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:96541000-96555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:96541200-96559800	Weak transcription	HMEC	breast
23	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
24	chr2:96542400-96557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:96542600-96558400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:96543000-96555200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:96543800-96596200	Weak transcription	K562	blood
28	chr2:96544000-96555800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:96544600-96561800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:96544800-96557200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:96545000-96559600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:96546000-96555600	Weak transcription	Fetal Lung	lung
34	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:96546400-96559800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:96546600-96554000	Weak transcription	HSMM	muscle
37	chr2:96546800-96562200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:96547000-96555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:96547200-96555600	Weak transcription	Fetal Heart	heart
41	chr2:96547200-96555600	Weak transcription	NH-A	brain
42	chr2:96547200-96558200	Weak transcription	HepG2	liver
43	chr2:96547400-96557200	Weak transcription	Aorta	Aorta
44	chr2:96547600-96575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:96547800-96554000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:96547800-96560200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:96548000-96563000	Weak transcription	Right Ventricle	heart
48	chr2:96548200-96555600	Weak transcription	GM12878-XiMat	blood
49	chr2:96548200-96557400	Weak transcription	NHEK	skin
50	chr2:96548200-96564200	Weak transcription	A549	lung

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