Variant report

Variant	esv1797061
Chromosome Location	chr2:96550572-96582175
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	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
7	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
8	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
9	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
11	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
12	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
13	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
15	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
16	FOS	chr2:96580972-96581165	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
17	FOS	chr2:96580933-96581340	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
18	FOS	chr2:96577185-96577670	HUVEC	blood vessel:	n/a	n/a
19	FOS	chr2:96560296-96560618	HUVEC	blood vessel:	n/a	chr2:96560498-96560509
20	FOS	chr2:96577088-96577789	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr2:96577082-96577544	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:96579028-96579391	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr2:96579034-96579235	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:96560402-96560620	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
25	FOS	chr2:96580963-96581274	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
26	FOS	chr2:96580941-96581427	HUVEC	blood vessel:	n/a	chr2:96581078-96581089
27	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:96560416-96560602	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
29	FOS	chr2:96556602-96556919	HUVEC	blood vessel:	n/a	chr2:96556763-96556774
30	FOS	chr2:96580931-96581305	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
31	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:96560290-96560623	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
34	FOS	chr2:96560409-96560601	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
35	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr2:96564494-96564780	HepG2	liver:	n/a	n/a
37	FOSL2	chr2:96575260-96575525	HepG2	liver:	n/a	n/a
38	FOSL2	chr2:96577136-96577604	A549	lung:	n/a	n/a
39	FOSL2	chr2:96580961-96581260	A549	lung:	n/a	n/a
40	FOSL2	chr2:96575775-96576066	HepG2	liver:	n/a	n/a
41	FOSL2	chr2:96570110-96570396	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:96577169-96577501	SK-N-SH	brain:	n/a	n/a
43	FOSL2	chr2:96558987-96559269	HepG2	liver:	n/a	n/a
44	FOSL2	chr2:96566945-96567320	HepG2	liver:	n/a	n/a
45	FOSL2	chr2:96570191-96570497	HepG2	liver:	n/a	n/a
46	FOSL2	chr2:96572561-96572936	HepG2	liver:	n/a	n/a
47	FOSL2	chr2:96558444-96558688	HepG2	liver:	n/a	n/a
48	FOSL2	chr2:96575599-96576008	HepG2	liver:	n/a	n/a
49	FOSL2	chr2:96564575-96564881	HepG2	liver:	n/a	n/a
50	FOXA1	chr2:96575175-96575468	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	chr2:96557405-96557647	ucscGeneNc_uc002swd_1
3	lnc-GPAT2-5	chr2:96561691-96561770	ucscGeneNc_uc002swd_1

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 1074 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1074 , 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	rs542230862	chr2:96550684-96550685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561698474	chr2:96550702-96550703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527789127	chr2:96550711-96550712	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13035377	chr2:96550747-96550748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541116421	chr2:96550772-96550773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193126448	chr2:96550777-96550778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2442239	chr2:96550842-96550843	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140814922	chr2:96550860-96550861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184303798	chr2:96550866-96550867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570341523	chr2:96550984-96550985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377541295	chr2:96551047-96551048	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370787366	chr2:96551084-96551085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199620576	chr2:96551106-96551107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529531683	chr2:96551128-96551129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548219482	chr2:96551144-96551145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548551931	chr2:96551234-96551235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568056087	chr2:96551325-96551326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533924406	chr2:96551346-96551347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553884887	chr2:96551359-96551360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138451615	chr2:96551426-96551427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539636782	chr2:96551428-96551429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556057889	chr2:96551449-96551450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576290107	chr2:96551470-96551471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550124483	chr2:96551475-96551476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541717484	chr2:96551640-96551641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188978571	chr2:96551669-96551670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572104406	chr2:96551686-96551687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181040591	chr2:96551763-96551764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541152891	chr2:96551764-96551765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112511583	chr2:96551858-96551859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564225509	chr2:96551930-96551931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533234516	chr2:96551971-96551972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202079647	chr2:96551974-96551975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112384812	chr2:96552056-96552057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563683810	chr2:96552192-96552193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529634921	chr2:96552228-96552229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549696825	chr2:96552234-96552235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185559117	chr2:96552260-96552261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527265965	chr2:96552271-96552272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547384410	chr2:96552339-96552340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570551707	chr2:96552368-96552369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539116723	chr2:96552401-96552402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556331307	chr2:96552506-96552507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568120852	chr2:96552515-96552516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535403492	chr2:96552645-96552646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555216996	chr2:96552782-96552783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572142398	chr2:96552891-96552892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534711586	chr2:96552933-96552934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200103065	chr2:96553112-96553113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112163092	chr2:96553271-96553272	Weak transcription Strong transcription	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:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96500600-96553400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:96502800-96551400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:96502800-96555200	Weak transcription	Ovary	ovary
5	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
6	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
7	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:96516800-96553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:96526600-96555200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:96526800-96553000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:96526800-96555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:96526800-96557600	Weak transcription	NHDF-Ad	bronchial
15	chr2:96527800-96554000	Weak transcription	HUVEC	blood vessel
16	chr2:96528600-96555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:96528600-96560000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:96530600-96555200	Weak transcription	Fetal Brain Female	brain
19	chr2:96531200-96557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:96533000-96558000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:96541000-96555200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:96541000-96555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:96541200-96559800	Weak transcription	HMEC	breast
27	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
28	chr2:96542400-96557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:96542600-96558400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:96543000-96555200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:96543800-96596200	Weak transcription	K562	blood
32	chr2:96544000-96555800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:96544600-96561800	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:96544800-96557200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:96545000-96559600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
37	chr2:96546000-96555600	Weak transcription	Fetal Lung	lung
38	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:96546400-96559800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:96546600-96554000	Weak transcription	HSMM	muscle
41	chr2:96546800-96562200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:96547000-96555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:96547200-96555600	Weak transcription	Fetal Heart	heart
45	chr2:96547200-96555600	Weak transcription	NH-A	brain
46	chr2:96547200-96558200	Weak transcription	HepG2	liver
47	chr2:96547400-96557200	Weak transcription	Aorta	Aorta
48	chr2:96547600-96575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:96547800-96554000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:96547800-96560200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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