Variant report

Variant	nsv874267
Chromosome Location	chr2:73717656-73857002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:680)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:73815468-73815657	K562	blood:	n/a	n/a
2	ARID3A	chr2:73731191-73731753	K562	blood:	n/a	n/a
3	ATF1	chr2:73731225-73731644	K562	blood:	n/a	n/a
4	BACH1	chr2:73815363-73815543	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:73813682-73813988	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:73830176-73830759	GM12878	blood:	n/a	n/a
7	BATF	chr2:73855647-73855936	GM12878	blood:	n/a	n/a
8	BATF	chr2:73830315-73830759	GM12878	blood:	n/a	n/a
9	BATF	chr2:73851315-73851489	GM12878	blood:	n/a	chr2:73851419-73851430
10	BATF	chr2:73743735-73743978	GM12878	blood:	n/a	n/a
11	BATF	chr2:73851278-73851536	GM12878	blood:	n/a	chr2:73851419-73851430
12	BCL11A	chr2:73855638-73856013	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:73830337-73830760	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:73821611-73821826	K562	blood:	n/a	n/a
15	BHLHE40	chr2:73815373-73815612	K562	blood:	n/a	n/a
16	BHLHE40	chr2:73837637-73837780	K562	blood:	n/a	n/a
17	BRCA1	chr2:73788722-73788731	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr2:73762783-73762868	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr2:73755894-73756155	K562	blood:	n/a	n/a
20	CBX3	chr2:73721007-73721539	HCT-116	colon:	n/a	n/a
21	CBX3	chr2:73757911-73758180	K562	blood:	n/a	n/a
22	CCNT2	chr2:73731432-73731665	K562	blood:	n/a	n/a
23	CEBPB	chr2:73731287-73731629	K562	blood:	n/a	n/a
24	CEBPB	chr2:73793459-73793745	IMR90	lung:	n/a	chr2:73793607-73793618
25	CEBPB	chr2:73793458-73793735	A549	lung:	n/a	chr2:73793607-73793618
26	CEBPB	chr2:73752261-73752388	HepG2	liver:	n/a	chr2:73752346-73752357
27	CEBPB	chr2:73829237-73829239	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr2:73788596-73788960	IMR90	lung:	n/a	chr2:73788883-73788896 chr2:73788772-73788783
29	CEBPB	chr2:73765034-73765252	HepG2	liver:	n/a	chr2:73765083-73765094
30	CEBPB	chr2:73831772-73832103	K562	blood:	n/a	chr2:73831937-73831948
31	CEBPB	chr2:73788592-73788959	HepG2	liver:	n/a	chr2:73788883-73788896 chr2:73788772-73788783
32	CEBPB	chr2:73820678-73820814	HepG2	liver:	n/a	chr2:73820780-73820791
33	CEBPB	chr2:73744738-73744869	HepG2	liver:	n/a	chr2:73744840-73744851
34	CEBPB	chr2:73838631-73838706	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:73752324-73752399	A549	lung:	n/a	chr2:73752346-73752357
36	CEBPB	chr2:73831790-73831998	IMR90	lung:	n/a	chr2:73831937-73831948
37	CEBPB	chr2:73793491-73793694	K562	blood:	n/a	chr2:73793607-73793618
38	CEBPB	chr2:73841359-73841438	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:73829135-73829305	HepG2	liver:	n/a	chr2:73829259-73829270 chr2:73829259-73829272
40	CEBPB	chr2:73788651-73788914	A549	lung:	n/a	chr2:73788883-73788896 chr2:73788772-73788783
41	CEBPB	chr2:73788648-73788932	Hela-S3	cervix:	n/a	chr2:73788883-73788896 chr2:73788772-73788783
42	CEBPB	chr2:73795282-73795516	HepG2	liver:	n/a	chr2:73795398-73795409
43	CEBPB	chr2:73793480-73793744	HepG2	liver:	n/a	chr2:73793607-73793618
44	CEBPB	chr2:73831780-73831986	HepG2	liver:	n/a	chr2:73831937-73831948
45	CEBPB	chr2:73820744-73820852	K562	blood:	n/a	chr2:73820780-73820791
46	CEBPB	chr2:73820673-73820898	A549	lung:	n/a	chr2:73820780-73820791
47	CEBPB	chr2:73829123-73829404	IMR90	lung:	n/a	chr2:73829259-73829270 chr2:73829259-73829272
48	CEBPB	chr2:73830200-73830405	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:73788626-73788950	K562	blood:	n/a	chr2:73788883-73788896 chr2:73788772-73788783
50	CEBPB	chr2:73795384-73795401	A549	lung:	n/a	n/a

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73806876..73809053-chr2:73809363..73811205,2	K562	blood:
2	chr2:73842404..73844324-chr2:73845193..73847014,2	MCF-7	breast:
3	chr2:73777345..73779608-chr2:73798944..73801333,2	MCF-7	breast:
4	chr2:73839411..73842027-chr2:73845184..73847412,3	MCF-7	breast:
5	chr2:73788145..73790335-chr2:73793829..73795838,2	MCF-7	breast:
6	chr14:24582941..24583875-chr2:73793545..73794452,2	MCF-7	breast:
7	chr2:73842508..73845608-chr2:73846002..73848469,3	K562	blood:
8	chr2:73842508..73845608-chr2:73846002..73848469,3	K562	blood:
9	chr2:73821998..73823983-chr2:73825301..73826890,2	K562	blood:
10	chr2:73842404..73844324-chr2:73845193..73847014,2	MCF-7	breast:
11	chr2:73834970..73837319-chr2:73844095..73845745,2	K562	blood:
12	chr2:73807379..73809875-chr2:73818968..73821012,2	MCF-7	breast:
13	chr2:73780509..73782432-chr2:73785003..73786606,2	K562	blood:
14	chr2:73807379..73809875-chr2:73818968..73821012,2	MCF-7	breast:
15	chr2:73611808..73614254-chr2:73740425..73742258,2	MCF-7	breast:
16	chr2:73824033..73827858-chr2:73829276..73833224,4	MCF-7	breast:
17	chr2:73759257..73763158-chr2:73774216..73777787,3	K562	blood:
18	chr2:73850004..73850829-chr2:73907369..73907993,2	K562	blood:
19	chr2:73834970..73837319-chr2:73844095..73845745,2	K562	blood:
20	chr2:73839411..73842027-chr2:73845184..73847412,3	MCF-7	breast:
21	chr2:73777345..73779608-chr2:73798944..73801333,2	MCF-7	breast:
22	chr2:73806876..73809053-chr2:73809363..73811205,2	K562	blood:
23	chr2:73788145..73790335-chr2:73793829..73795838,2	MCF-7	breast:
24	chr2:73780509..73782432-chr2:73785003..73786606,2	K562	blood:
25	chr2:73759257..73763158-chr2:73774216..73777787,3	K562	blood:
26	chr2:73846839..73847625-chr2:73907303..73907990,2	MCF-7	breast:
27	chr2:73837883..73840443-chr2:74211046..74212867,2	MCF-7	breast:
28	chr2:73793527..73795637-chr2:73799230..73800827,2	MCF-7	breast:
29	chr2:73846810..73847325-chr2:73907451..73907990,3	K562	blood:
30	chr2:73825783..73827723-chr2:74425756..74427466,2	K562	blood:
31	chr2:73793527..73795637-chr2:73799230..73800827,2	MCF-7	breast:
32	chr2:73821998..73823983-chr2:73825301..73826890,2	K562	blood:
33	chr12:83030541..83031126-chr2:73772566..73773410,2	MCF-7	breast:
34	chr2:73612074..73614842-chr2:73720180..73723169,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf78-4	chr2:73761951-73762076	NONHSAT071623
2	lnc-C2orf78-4	chr2:73747072-73747143	NONHSAT071623
3	lnc-C2orf78-4	chr2:73784347-73784387	NONHSAT071623

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ALMS1	hsa-miR-375	chr2:73836866-73836887
2	ALMS1	hsa-miR-197-3p	chr2:73836873-73836895

Variant related genes	Relation type
ALMS1	TF binding region
ENSG00000221087	TF binding region
ENSG00000100897	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000116127	chromatin interactions

Extended variants
information (count: 5758 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5758 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10193972	chr2:73717656-73717657	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538382027	chr2:73717662-73717663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199850691	chr2:73717663-73717664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565360354	chr2:73717721-73717722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373944325	chr2:73717730-73717731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185447739	chr2:73717740-73717741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377249623	chr2:73717741-73717742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555256551	chr2:73717744-73717745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576708380	chr2:73717756-73717757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368851263	chr2:73717796-73717797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370508584	chr2:73717797-73717798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537639125	chr2:73717809-73717810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374693631	chr2:73717816-73717817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189758049	chr2:73717822-73717823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142611294	chr2:73717828-73717829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577388677	chr2:73717837-73717838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201738475	chr2:73717851-73717852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199888202	chr2:73717857-73717858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376244626	chr2:73717865-73717866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541559170	chr2:73717897-73717898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35062203	chr2:73717921-73717922	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574785830	chr2:73717923-73717924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372578574	chr2:73717948-73717949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375254366	chr2:73717961-73717962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367862140	chr2:73717969-73717970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145029950	chr2:73717975-73717976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529506570	chr2:73717976-73717977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561233377	chr2:73717985-73717986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371736476	chr2:73717987-73717988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202110907	chr2:73718004-73718005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116854981	chr2:73718005-73718006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373374154	chr2:73718014-73718015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200390821	chr2:73718028-73718029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201937708	chr2:73718047-73718048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373057853	chr2:73718059-73718060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs45566838	chr2:73718066-73718067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs45552033	chr2:73718070-73718071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375535042	chr2:73718075-73718076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200930613	chr2:73718084-73718085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373492071	chr2:73718090-73718091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376757358	chr2:73718104-73718105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565501407	chr2:73718169-73718170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199672573	chr2:73718183-73718184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529686228	chr2:73718186-73718187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370622410	chr2:73718198-73718199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373870241	chr2:73718213-73718214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202228570	chr2:73718231-73718232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149329669	chr2:73718259-73718260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370779331	chr2:73718262-73718263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547914710	chr2:73718264-73718265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2136 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73676200-73719400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:73697600-73717800	Weak transcription	Fetal Heart	heart
3	chr2:73704600-73721000	Weak transcription	HMEC	breast
4	chr2:73704800-73718600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:73705800-73722600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:73706600-73721000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:73707000-73718000	Weak transcription	Fetal Kidney	kidney
8	chr2:73707000-73718000	Weak transcription	A549	lung
9	chr2:73707000-73733400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:73709200-73725400	Weak transcription	Fetal Brain Male	brain
11	chr2:73711800-73740400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:73713000-73721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:73713000-73721000	Weak transcription	Small Intestine	intestine
14	chr2:73713200-73757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:73713400-73721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:73713800-73719600	Strong transcription	Primary T cells from cord blood	blood
17	chr2:73714000-73719200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:73714600-73718600	Strong transcription	Right Ventricle	heart
19	chr2:73714600-73719200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:73714600-73721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:73714600-73725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:73714800-73718800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:73714800-73721200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:73714800-73722200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:73715000-73717800	Weak transcription	Fetal Lung	lung
26	chr2:73715000-73719200	Strong transcription	Ovary	ovary
27	chr2:73715000-73719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:73715000-73719800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:73715000-73719800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:73715000-73721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:73715000-73724600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:73715200-73717800	Strong transcription	Fetal Stomach	stomach
33	chr2:73715200-73719000	Strong transcription	Dnd41	blood
34	chr2:73715200-73722600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:73715400-73718200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:73715400-73719200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:73715400-73719200	Strong transcription	Fetal Brain Female	brain
38	chr2:73715400-73719600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:73715600-73717800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:73715600-73718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:73715600-73718800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:73715600-73720800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:73715600-73740200	Weak transcription	Esophagus	oesophagus
44	chr2:73715600-73751800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:73715800-73717800	Weak transcription	Lung	lung
46	chr2:73715800-73719800	Weak transcription	Colonic Mucosa	Colon
47	chr2:73715800-73720600	Weak transcription	GM12878-XiMat	blood
48	chr2:73715800-73721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:73715800-73740200	Weak transcription	Gastric	stomach
50	chr2:73716000-73719800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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