Variant report

Variant	nsv832523
Chromosome Location	chr12:117090343-117273810
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	ARID3A	chr12:117096578-117096778	HepG2	liver:	n/a	chr12:117096578-117096594
2	ARID3A	chr12:117257418-117257640	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:117141056-117141364	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:117111743-117111901	K562	blood:	n/a	n/a
5	ARID3A	chr12:117172197-117172531	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:117257176-117257692	K562	blood:	n/a	n/a
7	ARID3A	chr12:117135223-117135352	K562	blood:	n/a	n/a
8	ARID3A	chr12:117175930-117176220	K562	blood:	n/a	n/a
9	ARID3A	chr12:117175750-117176341	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:117173962-117174516	HepG2	liver:	n/a	n/a
11	ATF1	chr12:117256332-117257612	K562	blood:	n/a	chr12:117257418-117257432
12	ATF1	chr12:117197531-117197877	K562	blood:	n/a	n/a
13	ATF1	chr12:117175804-117176263	K562	blood:	n/a	n/a
14	ATF2	chr12:117110857-117111298	GM12878	blood:	n/a	n/a
15	ATF2	chr12:117114482-117115627	GM12878	blood:	n/a	n/a
16	ATF2	chr12:117175763-117176311	GM12878	blood:	n/a	n/a
17	ATF2	chr12:117256709-117257651	H1-hESC	embryonic stem cell:	n/a	chr12:117257420-117257431 chr12:117257418-117257432
18	ATF2	chr12:117256793-117257624	GM12878	blood:	n/a	chr12:117257420-117257431 chr12:117257418-117257432
19	ATF2	chr12:117110570-117111556	GM12878	blood:	n/a	n/a
20	ATF2	chr12:117256608-117257633	H1-hESC	embryonic stem cell:	n/a	chr12:117257420-117257431 chr12:117257418-117257432
21	ATF2	chr12:117256785-117257605	GM12878	blood:	n/a	chr12:117257420-117257431 chr12:117257418-117257432
22	ATF2	chr12:117114465-117115678	GM12878	blood:	n/a	n/a
23	ATF2	chr12:117140990-117141389	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr12:117175974-117176161	GM12878	blood:	n/a	chr12:117175986-117176006
25	ATF3	chr12:117175670-117176187	K562	blood:	n/a	chr12:117175986-117176006
26	ATF3	chr12:117175774-117176251	A549	lung:	n/a	chr12:117175986-117176006
27	ATF3	chr12:117175692-117176197	HepG2	liver:	n/a	chr12:117175986-117176006
28	ATF3	chr12:117256870-117257497	GM12878	blood:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
29	ATF3	chr12:117256805-117257485	H1-hESC	embryonic stem cell:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
30	ATF3	chr12:117175779-117175931	GM12878	blood:	n/a	n/a
31	ATF3	chr12:117257090-117257496	HepG2	liver:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
32	ATF3	chr12:117256992-117257534	K562	blood:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
33	ATF3	chr12:117119156-117119456	K562	blood:	n/a	n/a
34	ATF3	chr12:117175744-117176333	H1-hESC	embryonic stem cell:	n/a	chr12:117175986-117176006
35	ATF3	chr12:117175659-117176327	GM12878	blood:	n/a	chr12:117175986-117176006
36	ATF3	chr12:117256950-117257521	H1-hESC	embryonic stem cell:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
37	ATF3	chr12:117257130-117257364	GM12878	blood:	n/a	n/a
38	ATF3	chr12:117175687-117176254	H1-hESC	embryonic stem cell:	n/a	chr12:117175986-117176006
39	ATF3	chr12:117257030-117257546	K562	blood:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
40	ATF3	chr12:117175646-117176242	K562	blood:	n/a	chr12:117175986-117176006
41	ATF3	chr12:117222139-117222376	K562	blood:	n/a	n/a
42	ATF3	chr12:117256789-117257562	K562	blood:	n/a	chr12:117257422-117257429 chr12:117257421-117257432 chr12:117257419-117257429 chr12:117257420-117257433 chr12:117257379-117257388 chr12:117257419-117257432 chr12:117257418-117257429 chr12:117257420-117257431 chr12:117257468-117257477 chr12:117257418-117257431 chr12:117257420-117257431 chr12:117257422-117257433 chr12:117257422-117257432 chr12:117257419-117257432 chr12:117257421-117257429 chr12:117257421-117257441 chr12:117257418-117257433 chr12:117257422-117257430 chr12:117257422-117257432 chr12:117257410-117257430
43	BACH1	chr12:117174351-117174490	K562	blood:	n/a	n/a
44	BACH1	chr12:117197545-117198049	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr12:117125697-117126027	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr12:117197646-117198094	K562	blood:	n/a	n/a
47	BACH1	chr12:117209577-117209696	K562	blood:	n/a	n/a
48	BATF	chr12:117110865-117111267	GM12878	blood:	n/a	n/a
49	BATF	chr12:117110672-117111260	GM12878	blood:	n/a	n/a
50	BATF	chr12:117115180-117115509	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117131719-117131769	GM12878	blood:	n/a
2	chr12:117174732-117174782	T-47D	breast:	n/a
3	chr12:117131719-117131769	GM12878	blood:	n/a
4	chr12:117174732-117174782	T-47D	breast:	n/a
5	chr12:117184799-117184849	HIPEpiC	eye:	n/a
6	chr12:117175954-117176004	GM06990	blood:	n/a
7	chr12:117190080-117190130	ovcar-3	ovarian:	n/a
8	chr12:117131719-117131769	HRE	kidney:	n/a
9	chr12:117155382-117155432	SK-N-MC	brain:	n/a
10	chr12:117131523-117131573	HRE	kidney:	n/a
11	chr12:117099208-117099258	NT2-D1	testis:	n/a
12	chr12:117176050-117176100	GM06990	blood:	n/a
13	chr12:117174732-117174782	IMR90	lung:	fetal
14	chr12:117176050-117176100	H1-hESC	embryonic stem cell:	embryo
15	chr12:117147681-117147731	PANC-1	pancreas:	n/a
16	chr12:117174732-117174782	BJ	skin:	n/a
17	chr12:117176115-117176165	PFSK-1	brain:	n/a
18	chr12:117260815-117260865	SAEC	small airway:	n/a
19	chr12:117099435-117099485	GM12878	blood:	n/a
20	chr12:117258827-117258877	SK-N-SH	brain:	n/a
21	chr12:117175889-117175939	GM06990	blood:	n/a
22	chr12:117256864-117256914	GM19239	blood:	n/a
23	chr12:117204781-117204831	IMR90	lung:	fetal
24	chr12:117174732-117174782	NT2-D1	testis:	n/a
25	chr12:117100516-117100566	ovcar-3	ovarian:	n/a
26	chr12:117176038-117176088	HRE	kidney:	n/a
27	chr12:117204781-117204831	GM19239	blood:	n/a
28	chr12:117155472-117155522	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:117155382-117155432	HepG2	liver:	n/a
30	chr12:117175042-117175092	NHDF-neo	bronchial:	n/a
31	chr12:117147684-117147734	GM06990	blood:	n/a
32	chr12:117164627-117164677	HNPCEpiC	eye:	n/a
33	chr12:117258827-117258877	GM12878	blood:	n/a
34	chr12:117131719-117131769	ProgFib	skin:	n/a
35	chr12:117204781-117204831	NT2-D1	testis:	n/a
36	chr12:117147684-117147734	PFSK-1	brain:	n/a
37	chr12:117187890-117187940	NT2-D1	testis:	n/a
38	chr12:117176563-117176613	SAEC	small airway:	n/a
39	chr12:117256864-117256914	NHBE	bronchial:	n/a
40	chr12:117176563-117176613	A549	lung:	n/a
41	chr12:117099435-117099485	HCT-116	colon:	n/a
42	chr12:117098877-117098927	NT2-D1	testis:	n/a
43	chr12:117098877-117098927	ProgFib	skin:	n/a
44	chr12:117187838-117187888	HEK293	kidney:	embryo
45	chr12:117175919-117175969	GM12891	blood:	n/a
46	chr12:117147681-117147731	SKMC	muscle:	n/a
47	chr12:117175957-117176007	HCM	heart:	n/a
48	chr12:117113346-117113396	HMEC	breast:	n/a
49	chr12:117260815-117260865	HNPCEpiC	eye:	n/a
50	chr12:117187890-117187940	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:117094883..117097893-chr12:117100651..117103499,3	MCF-7	breast:
2	chr12:117214324..117217304-chr12:117220516..117222283,2	K562	blood:
3	chr12:117249993..117252950-chr12:117255244..117258293,4	MCF-7	breast:
4	chr12:117174912..117176575-chr12:117346883..117348986,2	MCF-7	breast:
5	chr12:117211010..117211823-chr12:117393204..117393940,3	MCF-7	breast:
6	chr12:117140723..117141336-chr12:117393093..117394044,4	MCF-7	breast:
7	chr12:117243731..117245793-chr12:117253292..117254945,2	MCF-7	breast:
8	chr12:117255957..117259131-chr12:117261216..117264613,4	MCF-7	breast:
9	chr12:117255625..117260515-chr12:117260953..117265280,7	K562	blood:
10	chr12:117164651..117166195-chr12:117167203..117169906,2	MCF-7	breast:
11	chr12:117113038..117114902-chr12:117119313..117121724,2	MCF-7	breast:
12	chr12:117174551..117177201-chr12:117210571..117213552,2	MCF-7	breast:
13	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
14	chr12:117172847..117175842-chr12:117176495..117179141,3	MCF-7	breast:
15	chr12:117140715..117144764-chr12:117146137..117149297,3	MCF-7	breast:
16	chr12:117155609..117158442-chr12:117174031..117175991,2	MCF-7	breast:
17	chr12:117145528..117148245-chr12:117152693..117154607,2	K562	blood:
18	chr12:117150161..117152027-chr12:117174751..117177146,2	MCF-7	breast:
19	chr12:117100993..117103339-chr12:117105815..117107705,2	K562	blood:
20	chr12:117168142..117171595-chr12:117173878..117178564,5	K562	blood:
21	chr12:117211246..117213116-chr12:117248453..117251134,2	MCF-7	breast:
22	chr12:117088937..117090937-chr12:117094983..117097116,2	K562	blood:
23	chr12:117246891..117249993-chr12:117250425..117253317,3	K562	blood:
24	chr12:117255787..117257433-chr12:117297351..117300001,2	K562	blood:
25	chr12:117255729..117257748-chr12:117292292..117294428,2	MCF-7	breast:
26	chr12:116713380..116716042-chr12:117094193..117096559,2	MCF-7	breast:
27	chr12:117172693..117174490-chr12:117177320..117180266,3	MCF-7	breast:
28	chr12:117207905..117210327-chr12:117210901..117212728,2	K562	blood:
29	chr12:117093937..117096401-chr12:117110175..117113258,3	MCF-7	breast:
30	chr12:117174208..117175948-chr12:117246360..117248335,2	MCF-7	breast:
31	chr12:117172640..117175052-chr12:117251934..117254803,2	MCF-7	breast:
32	chr12:117129764..117132726-chr12:117134572..117136682,4	MCF-7	breast:
33	chr12:116827947..116828745-chr12:117093627..117094134,2	MCF-7	breast:
34	chr12:117159604..117161644-chr12:117164288..117165947,2	MCF-7	breast:
35	chr12:117159604..117161644-chr12:117164288..117165947,2	MCF-7	breast:
36	chr12:116943749..116945743-chr12:117126390..117129079,2	K562	blood:
37	chr12:117105037..117107604-chr12:117110461..117113567,3	MCF-7	breast:
38	chr12:117104915..117106831-chr12:117109752..117111659,2	K562	blood:
39	chr12:117175863..117177827-chr12:117180239..117183137,3	MCF-7	breast:
40	chr12:117099623..117100620-chr2:42587817..42588707,2	NB4	blood:
41	chr12:117172693..117174490-chr12:117177320..117180266,3	MCF-7	breast:
42	chr12:117256689..117258680-chr12:117270250..117272345,2	MCF-7	breast:
43	chr12:117206430..117208950-chr12:117256822..117258508,2	MCF-7	breast:
44	chr12:117105037..117107604-chr12:117110461..117113567,3	MCF-7	breast:
45	chr12:117229820..117232354-chr12:117233502..117235070,2	MCF-7	breast:
46	chr12:117246891..117249993-chr12:117250425..117253317,3	K562	blood:
47	chr12:31478801..31479401-chr12:117175467..117175974,2	NB4	blood:
48	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
49	chr12:117242162..117243909-chr12:117254243..117257229,2	K562	blood:
50	chr12:117160120..117163507-chr12:117174377..117177352,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf49-3	chr12:117149738-117150681	NONHSAT030961
2	lnc-RNFT2-1	chr12:117100026-117100051	NONHSAT030958
3	lnc-RNFT2-2	chr12:117140598-117140935	ENSG00000257654
4	lnc-RNFT2-1	chr12:117150040-117150385	NONHSAT030958
5	lnc-RNFT2-2	chr12:117136141-117136168	ENSG00000257654
6	lnc-RNFT2-1	chr12:117149742-117150681	ENSG00000250553
7	lnc-C12orf49-3	chr12:117147979-117149093	NONHSAT030961
8	lnc-RNFT2-1	chr12:117147983-117149097	ENSG00000250553
9	lnc-RNFT2-3	chr12:117113410-117113731	XLOC_009899
10	lnc-RNFT2-3	chr12:117101870-117101898	XLOC_009899

No.	miRNA target gene	miRNA name	Chromosome Location
1	C12orf49	hsa-let-7b-5p	chr12:117154072-117154093
2	C12orf49	hsa-miR-1	chr12:117154117-117154139
3	C12orf49	hsa-let-7e-5p	chr12:117154072-117154093

Variant related genes	Relation type
RNU6-558P	TF binding region
ENSG00000239374	TF binding region
ENSG00000257654	TF binding region
RNFT2	TF binding region
ENSG00000257883	TF binding region
C12orf49	TF binding region
RNU6-558P	CpG island
ENSG00000239374	CpG island
ENSG00000257654	CpG island
RNFT2	CpG island
ENSG00000257883	CpG island
C12orf49	CpG island
ENSG00000135119	chromatin interactions
ENSG00000164978	chromatin interactions
ENSG00000111412	chromatin interactions
ENSG00000139146	chromatin interactions
ENSG00000156482	chromatin interactions
ENSG00000115944	chromatin interactions
ENSG00000123066	chromatin interactions
ENSG00000258285	chromatin interactions
ENSG00000201382	chromatin interactions
ENSG00000106245	chromatin interactions
ENSG00000174989	chromatin interactions
ENSG00000257883	chromatin interactions
ENSG00000239374	chromatin interactions
ENSG00000257654	chromatin interactions
ENSG00000135116	chromatin interactions
ENSG00000088992	chromatin interactions
MTMR12	miRNA target sites
EZH2	miRNA target sites
VEGFA	miRNA target sites

Extended variants
information (count: 7074 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:7074 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73218429	chr12:117090345-117090346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571832957	chr12:117090351-117090352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534516420	chr12:117090441-117090442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17500613	chr12:117090452-117090453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192704213	chr12:117090538-117090539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536298563	chr12:117090542-117090543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149744909	chr12:117090573-117090574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146673981	chr12:117090574-117090575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545065398	chr12:117090601-117090602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542540756	chr12:117090642-117090643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11068128	chr12:117090675-117090676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539169658	chr12:117090685-117090686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115684526	chr12:117090692-117090693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183716596	chr12:117090714-117090715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528129972	chr12:117090757-117090758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116953786	chr12:117090759-117090760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201199697	chr12:117090766-117090767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529183991	chr12:117090769-117090770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564858256	chr12:117090800-117090801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189200419	chr12:117090813-117090814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181957886	chr12:117090936-117090937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117715468	chr12:117090939-117090940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550668874	chr12:117091004-117091005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140242467	chr12:117091051-117091052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185692247	chr12:117091058-117091059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527931385	chr12:117091083-117091084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140255408	chr12:117091087-117091088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190276798	chr12:117091122-117091123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567870507	chr12:117091128-117091129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145209183	chr12:117091152-117091153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371628699	chr12:117091154-117091155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181882529	chr12:117091157-117091158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547360087	chr12:117091202-117091203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567171550	chr12:117091222-117091223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374158397	chr12:117091240-117091241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538627537	chr12:117091282-117091283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558661564	chr12:117091296-117091297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368033396	chr12:117091297-117091298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557659851	chr12:117091306-117091307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10850692	chr12:117091337-117091338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75538568	chr12:117091339-117091340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553884738	chr12:117091340-117091341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186540927	chr12:117091353-117091354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191301410	chr12:117091373-117091374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182765010	chr12:117091390-117091391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58355355	chr12:117091415-117091416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545003121	chr12:117091457-117091458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74418865	chr12:117091474-117091475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565021018	chr12:117091524-117091525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78070444	chr12:117091565-117091566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4473 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117084000-117093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:117088400-117093000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:117088600-117090800	Weak transcription	Right Atrium	heart
4	chr12:117088600-117094000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:117088600-117094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:117089400-117093200	Weak transcription	Lung	lung
7	chr12:117089400-117096000	Weak transcription	Thymus	Thymus
8	chr12:117091600-117096000	Weak transcription	Right Atrium	heart
9	chr12:117093000-117093800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:117093000-117094800	Enhancers	Fetal Stomach	stomach
11	chr12:117093200-117093400	Enhancers	Lung	lung
12	chr12:117093200-117093800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:117093200-117094000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:117093400-117093600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:117093400-117093600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:117093400-117093600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:117093400-117093800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:117093400-117094000	Weak transcription	Lung	lung
19	chr12:117093400-117094200	Enhancers	Fetal Thymus	thymus
20	chr12:117093600-117094600	Enhancers	Ovary	ovary
21	chr12:117093600-117096200	Enhancers	Fetal Muscle Leg	muscle
22	chr12:117093600-117096400	Enhancers	Fetal Muscle Trunk	muscle
23	chr12:117093800-117096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:117093800-117096000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:117093800-117096200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:117094000-117094200	Enhancers	Lung	lung
28	chr12:117094000-117094400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:117094000-117094600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:117094000-117095000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:117094200-117094600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:117094200-117095600	Weak transcription	Fetal Thymus	thymus
33	chr12:117094200-117098000	Weak transcription	Lung	lung
34	chr12:117094400-117094600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:117094400-117094600	Enhancers	Adipose Nuclei	Adipose
36	chr12:117094600-117095600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:117094600-117095800	Weak transcription	Adipose Nuclei	Adipose
38	chr12:117094600-117095800	Weak transcription	Ovary	ovary
39	chr12:117094600-117096200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:117094800-117095800	Weak transcription	Fetal Stomach	stomach
41	chr12:117095000-117095200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:117095000-117095400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:117095400-117095800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:117095600-117095800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:117095600-117095800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:117095600-117096000	Enhancers	Colon Smooth Muscle	Colon
47	chr12:117095600-117096000	Enhancers	Fetal Brain Female	brain
48	chr12:117095600-117096200	Enhancers	Fetal Intestine Small	intestine
49	chr12:117095600-117098600	Enhancers	Fetal Thymus	thymus
50	chr12:117095800-117096000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links