Variant report

Variant	esv1792220
Chromosome Location	chr2:100063440-100077327
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	CEBPB	chr2:100076824-100076893	HepG2	liver:	n/a	chr2:100076845-100076856
2	CEBPB	chr2:100074293-100074519	K562	blood:	n/a	n/a
3	CEBPB	chr2:100071610-100071886	HepG2	liver:	n/a	n/a
4	CREB1	chr2:100067976-100068467	GM12878	blood:	n/a	n/a
5	CTCF	chr2:100064388-100064442	GM10248	blood:	n/a	n/a
6	CTCF	chr2:100063360-100063510	AG09309	skin:	n/a	n/a
7	CTCF	chr2:100064223-100064297	Lung_OC	lung:	n/a	n/a
8	CTCF	chr2:100072880-100073030	Caco-2	colon:	n/a	n/a
9	CTCF	chr2:100077120-100077270	HRE	kidney:	n/a	n/a
10	E2F4	chr2:100064834-100065440	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr2:100067516-100067716	MCF10A-Er-Src	breast:	n/a	chr2:100067625-100067642 chr2:100067625-100067642
12	FOS	chr2:100066644-100066981	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:100064976-100065467	MCF10A-Er-Src	breast:	n/a	chr2:100065288-100065296 chr2:100065288-100065296 chr2:100065289-100065296 chr2:100065286-100065297 chr2:100065287-100065297
14	FOS	chr2:100064946-100065479	MCF10A-Er-Src	breast:	n/a	chr2:100065288-100065296 chr2:100065288-100065296 chr2:100065289-100065296 chr2:100065286-100065297 chr2:100065287-100065297
15	FOS	chr2:100066031-100066382	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:100064892-100065470	MCF10A-Er-Src	breast:	n/a	chr2:100065288-100065296 chr2:100065288-100065296 chr2:100065289-100065296 chr2:100065286-100065297 chr2:100065287-100065297
17	FOS	chr2:100066654-100066955	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:100066638-100066979	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr2:100065034-100065465	HUVEC	blood vessel:	n/a	chr2:100065288-100065296 chr2:100065288-100065296 chr2:100065289-100065296 chr2:100065286-100065297 chr2:100065287-100065297
20	FOS	chr2:100064931-100065470	MCF10A-Er-Src	breast:	n/a	chr2:100065288-100065296 chr2:100065288-100065296 chr2:100065289-100065296 chr2:100065286-100065297 chr2:100065287-100065297
21	FOXP2	chr2:100071004-100071212	SK-N-MC	brain:	n/a	n/a
22	GATA3	chr2:100074657-100074952	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr2:100068997-100069179	SH-SY5Y	brain:	n/a	n/a
24	JUN	chr2:100064968-100065450	HUVEC	blood vessel:	n/a	chr2:100065288-100065296 chr2:100065288-100065296 chr2:100065289-100065296 chr2:100065287-100065297
25	KAP1	chr2:100067576-100068239	HEK293	kidney:	n/a	n/a
26	KAP1	chr2:100067562-100068304	U2OS	brain:	n/a	n/a
27	MAFF	chr2:100075017-100075361	HepG2	liver:	n/a	chr2:100075175-100075193
28	MAFK	chr2:100076959-100077002	HepG2	liver:	n/a	n/a
29	MAFK	chr2:100075026-100075328	IMR90	lung:	n/a	n/a
30	MAFK	chr2:100075011-100075361	HepG2	liver:	n/a	n/a
31	MAFK	chr2:100075009-100075363	HepG2	liver:	n/a	n/a
32	MYC	chr2:100064981-100065466	MCF10A-Er-Src	breast:	n/a	chr2:100065287-100065296
33	MYC	chr2:100064933-100065470	MCF10A-Er-Src	breast:	n/a	chr2:100065287-100065296
34	MYC	chr2:100066721-100066932	MCF10A-Er-Src	breast:	n/a	n/a
35	NRF1	chr2:100071305-100071307	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:100075748-100076394	K562	blood:	n/a	n/a
37	POLR2A	chr2:100065759-100065964	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:100071189-100071217	MCF-7	breast:	n/a	n/a
39	POLR2A	chr2:100064105-100064115	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:100067358-100067572	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:100070612-100070783	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr2:100068929-100069015	MCF-7	breast:	n/a	n/a
43	POLR2A	chr2:100076040-100076094	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr2:100071151-100071351	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:100064076-100064094	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:100071062-100071082	MCF-7	breast:	n/a	n/a
47	POLR2A	chr2:100071123-100071155	MCF-7	breast:	n/a	n/a
48	POLR2A	chr2:100066777-100066931	ProgFib	skin:	n/a	n/a
49	POLR2A	chr2:100064956-100065074	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:100065077-100065083	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:100065327..100067396-chr2:100072129..100074926,2	K562	blood:
2	chr2:100068825..100071556-chr2:100104542..100107022,2	MCF-7	breast:
3	chr2:100065120..100066698-chr2:100069712..100072523,2	MCF-7	breast:
4	chr2:100061358..100063213-chr2:100063988..100066181,2	MCF-7	breast:
5	chr2:100077312..100079121-chr2:100100989..100102811,2	K562	blood:
6	chr2:100071675..100073794-chr2:100105117..100106832,2	K562	blood:
7	chr2:100072001..100074970-chr2:100080545..100083472,2	MCF-7	breast:
8	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
9	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
10	chr2:100068951..100071646-chr2:100081782..100083860,2	K562	blood:
11	chr2:100065120..100066698-chr2:100069712..100072523,2	MCF-7	breast:
12	chr2:100065327..100067396-chr2:100072129..100074926,2	K562	blood:
13	chr2:100072254..100074226-chr2:100106055..100108821,2	MCF-7	breast:

Variant related genes	Relation type
REV1	TF binding region
ENSG00000135945	chromatin interactions

Extended variants
information (count: 504 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562265427	chr2:100063463-100063464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537689283	chr2:100063486-100063487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554760902	chr2:100063496-100063497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189686201	chr2:100063560-100063561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530976428	chr2:100063680-100063681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7563455	chr2:100063681-100063682	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs572932848	chr2:100063707-100063708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7563462	chr2:100063708-100063709	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs565083359	chr2:100063727-100063728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201585307	chr2:100063761-100063762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373172649	chr2:100063784-100063785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544437405	chr2:100063816-100063817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7572779	chr2:100063844-100063845	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs373024038	chr2:100063902-100063903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10865031	chr2:100063923-100063924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs369833498	chr2:100063938-100063939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146189117	chr2:100063954-100063955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560169060	chr2:100063956-100063957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532192037	chr2:100064052-100064053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552294878	chr2:100064071-100064072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11899745	chr2:100064072-100064073	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537952005	chr2:100064107-100064108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548054971	chr2:100064134-100064135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568260396	chr2:100064135-100064136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200885876	chr2:100064179-100064180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9973846	chr2:100064180-100064181	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs553675726	chr2:100064209-100064210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181232686	chr2:100064242-100064243	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1839667	chr2:100064264-100064265	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs558538081	chr2:100064268-100064269	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1451246	chr2:100064283-100064284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs377145300	chr2:100064286-100064287	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186106843	chr2:100064316-100064317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575007115	chr2:100064325-100064326	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540568026	chr2:100064329-100064330	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553155407	chr2:100064362-100064363	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560808418	chr2:100064409-100064410	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10188633	chr2:100064424-100064425	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189696740	chr2:100064449-100064450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181884881	chr2:100064453-100064454	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562491753	chr2:100064480-100064481	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186097128	chr2:100064492-100064493	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536769278	chr2:100064496-100064497	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548298243	chr2:100064504-100064505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568137758	chr2:100064506-100064507	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555827355	chr2:100064522-100064523	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540269221	chr2:100064567-100064568	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139375788	chr2:100064568-100064569	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547280780	chr2:100064580-100064581	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570371722	chr2:100064607-100064608	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
5	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
6	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
8	chr2:100041400-100077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:100042800-100065000	Weak transcription	Lung	lung
11	chr2:100045000-100064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:100045400-100068200	Weak transcription	Ovary	ovary
13	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
14	chr2:100048400-100067800	Weak transcription	Fetal Heart	heart
15	chr2:100048600-100064000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:100048600-100068200	Weak transcription	Spleen	Spleen
17	chr2:100048800-100070400	Weak transcription	Fetal Brain Female	brain
18	chr2:100050000-100065000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:100051800-100064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:100053800-100075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:100055400-100083200	Weak transcription	Right Ventricle	heart
22	chr2:100055600-100063800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:100055600-100064000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:100055600-100065000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:100055600-100065000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:100055600-100065000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:100055600-100065000	Weak transcription	NH-A	brain
28	chr2:100055600-100065400	Weak transcription	Brain Germinal Matrix	brain
29	chr2:100055600-100068600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:100055600-100071200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:100055600-100078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:100055600-100079800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:100055800-100063800	Weak transcription	Fetal Stomach	stomach
34	chr2:100055800-100064000	Weak transcription	HMEC	breast
35	chr2:100055800-100064200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:100055800-100064200	Weak transcription	HSMMtube	muscle
37	chr2:100055800-100064200	Weak transcription	Osteobl	bone
38	chr2:100055800-100064400	Weak transcription	Colonic Mucosa	Colon
39	chr2:100055800-100065000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:100055800-100067800	Weak transcription	Fetal Lung	lung
41	chr2:100055800-100072200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:100055800-100072800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:100055800-100076200	Weak transcription	Aorta	Aorta
44	chr2:100055800-100076400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:100055800-100089000	Weak transcription	Pancreas	Pancrea
46	chr2:100055800-100092600	Weak transcription	Gastric	stomach
47	chr2:100056000-100064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:100056000-100064000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:100056600-100091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:100056800-100064800	Weak transcription	Fetal Kidney	kidney

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