Variant report

Variant	esv1010947
Chromosome Location	chr2:96549314-96586310
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	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
6	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
7	CEBPB	chr2:96556081-96556287	IMR90	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	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
11	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
12	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
13	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
14	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
15	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr2:96549380-96549392	K562	blood:	n/a	n/a
17	FOS	chr2:96577185-96577670	HUVEC	blood vessel:	n/a	n/a
18	FOS	chr2:96580931-96581305	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
19	FOS	chr2:96579028-96579391	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr2:96560296-96560618	HUVEC	blood vessel:	n/a	chr2:96560498-96560509
21	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:96556602-96556919	HUVEC	blood vessel:	n/a	chr2:96556763-96556774
23	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:96582747-96583240	HUVEC	blood vessel:	n/a	chr2:96582941-96582952
25	FOS	chr2:96579034-96579235	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr2:96580972-96581165	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
27	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:96580941-96581427	HUVEC	blood vessel:	n/a	chr2:96581078-96581089
29	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:96577082-96577544	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:96560402-96560620	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
32	FOS	chr2:96560290-96560623	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
33	FOS	chr2:96560416-96560602	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
34	FOS	chr2:96577088-96577789	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:96580963-96581274	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
36	FOS	chr2:96560409-96560601	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
37	FOS	chr2:96580933-96581340	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
38	FOSL2	chr2:96577169-96577501	SK-N-SH	brain:	n/a	n/a
39	FOSL2	chr2:96575599-96576008	HepG2	liver:	n/a	n/a
40	FOSL2	chr2:96570110-96570396	HepG2	liver:	n/a	n/a
41	FOSL2	chr2:96575775-96576066	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:96577136-96577604	A549	lung:	n/a	n/a
43	FOSL2	chr2:96558444-96558688	HepG2	liver:	n/a	n/a
44	FOSL2	chr2:96564575-96564881	HepG2	liver:	n/a	n/a
45	FOSL2	chr2:96583238-96583458	HepG2	liver:	n/a	n/a
46	FOSL2	chr2:96566945-96567320	HepG2	liver:	n/a	n/a
47	FOSL2	chr2:96558987-96559269	HepG2	liver:	n/a	n/a
48	FOSL2	chr2:96580961-96581260	A549	lung:	n/a	n/a
49	FOSL2	chr2:96575260-96575525	HepG2	liver:	n/a	n/a
50	FOSL2	chr2:96564494-96564780	HepG2	liver:	n/a	n/a

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

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 1356 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552293971	chr2:96549325-96549326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562862971	chr2:96549338-96549339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531755664	chr2:96549463-96549464	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548659737	chr2:96549486-96549487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568589253	chr2:96549495-96549496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187677914	chr2:96549545-96549546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542195430	chr2:96549550-96549551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191741264	chr2:96549577-96549578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184201518	chr2:96549632-96549633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187431357	chr2:96549732-96549733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527980115	chr2:96549758-96549759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62153677	chr2:96549772-96549773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372873516	chr2:96549778-96549779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74206425	chr2:96549784-96549785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558277532	chr2:96549806-96549807	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575167368	chr2:96549809-96549810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537587297	chr2:96549812-96549813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72931775	chr2:96549814-96549815	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139266900	chr2:96549824-96549825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192753870	chr2:96549838-96549839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185419469	chr2:96549843-96549844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145149882	chr2:96549847-96549848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560343867	chr2:96549892-96549893	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199966618	chr2:96549900-96549901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546071601	chr2:96549915-96549916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200413094	chr2:96549953-96549954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200789374	chr2:96549973-96549974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201786688	chr2:96549977-96549978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548429093	chr2:96550034-96550035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561862989	chr2:96550076-96550077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527753273	chr2:96550084-96550085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190569313	chr2:96550100-96550101	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570670443	chr2:96550103-96550104	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539784244	chr2:96550152-96550153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375580710	chr2:96550154-96550155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568785791	chr2:96550155-96550156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537829623	chr2:96550175-96550176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554230797	chr2:96550192-96550193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370214051	chr2:96550243-96550244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574605507	chr2:96550247-96550248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533833555	chr2:96550256-96550257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554052667	chr2:96550327-96550328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577111644	chr2:96550330-96550331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545806839	chr2:96550339-96550340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546566337	chr2:96550429-96550430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374500990	chr2:96550436-96550437	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13029222	chr2:96550465-96550466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576224443	chr2:96550507-96550508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564498717	chr2:96550531-96550532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542230862	chr2:96550684-96550685	Strong transcription Weak 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:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr2:96506200-96549400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:96516800-96553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:96526600-96549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:96526600-96555200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:96526800-96553000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:96526800-96555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:96526800-96557600	Weak transcription	NHDF-Ad	bronchial
17	chr2:96527800-96554000	Weak transcription	HUVEC	blood vessel
18	chr2:96528600-96555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:96528600-96560000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:96530600-96555200	Weak transcription	Fetal Brain Female	brain
21	chr2:96531200-96557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:96533000-96558000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:96541000-96555200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:96541000-96555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:96541200-96559800	Weak transcription	HMEC	breast
29	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
30	chr2:96542400-96557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:96542600-96558400	Weak transcription	Brain Substantia Nigra	brain
32	chr2:96543000-96555200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:96543800-96596200	Weak transcription	K562	blood
34	chr2:96544000-96555800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:96544600-96561800	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:96544800-96557200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:96545000-96559600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
39	chr2:96546000-96555600	Weak transcription	Fetal Lung	lung
40	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:96546400-96559800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:96546600-96554000	Weak transcription	HSMM	muscle
43	chr2:96546800-96562200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:96547000-96555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:96547200-96555600	Weak transcription	Fetal Heart	heart
47	chr2:96547200-96555600	Weak transcription	NH-A	brain
48	chr2:96547200-96558200	Weak transcription	HepG2	liver
49	chr2:96547400-96557200	Weak transcription	Aorta	Aorta
50	chr2:96547600-96575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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