Variant report

Variant	esv3406101
Chromosome Location	chr12:56121510-56124058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:913)
CpG islands
(count:1099)
Chromatin interactive
region (count:61)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:56122939-56123188	K562	blood:	n/a	n/a
2	ATF1	chr12:56122752-56123070	K562	blood:	n/a	n/a
3	ATF2	chr12:56122816-56123278	GM12878	blood:	n/a	n/a
4	ATF2	chr12:56122718-56123452	GM12878	blood:	n/a	n/a
5	ATF3	chr12:56122813-56123100	HepG2	liver:	n/a	n/a
6	ATF3	chr12:56122706-56123152	GM12878	blood:	n/a	n/a
7	ATF3	chr12:56122703-56123157	K562	blood:	n/a	n/a
8	ATF3	chr12:56122724-56123162	A549	lung:	n/a	n/a
9	ATF3	chr12:56122730-56123112	K562	blood:	n/a	n/a
10	ATF3	chr12:56122839-56123058	GM12878	blood:	n/a	n/a
11	BACH1	chr12:56122886-56123784	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr12:56122785-56123628	A549	lung:	n/a	chr12:56123093-56123102 chr12:56123576-56123584
13	BCL3	chr12:56122719-56123182	GM12878	blood:	n/a	chr12:56122772-56122785 chr12:56123093-56123102 chr12:56122771-56122780
14	BCLAF1	chr12:56122780-56123253	GM12878	blood:	n/a	chr12:56123093-56123102
15	BHLHE40	chr12:56122705-56123198	GM12878	blood:	n/a	chr12:56122905-56122921
16	BHLHE40	chr12:56122721-56123179	HepG2	liver:	n/a	chr12:56122905-56122921
17	BHLHE40	chr12:56123446-56124279	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:56122577-56123714	K562	blood:	n/a	chr12:56122905-56122921
19	BHLHE40	chr12:56121416-56122008	K562	blood:	n/a	n/a
20	BRCA1	chr12:56122910-56122992	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr12:56123015-56123042	HepG2	liver:	n/a	n/a
22	CBX3	chr12:56122815-56123909	K562	blood:	n/a	n/a
23	CCNT2	chr12:56121593-56123194	K562	blood:	n/a	chr12:56122309-56122318 chr12:56121837-56121846 chr12:56122502-56122511 chr12:56122490-56122499 chr12:56122857-56122866
24	CCNT2	chr12:56123563-56123717	K562	blood:	n/a	n/a
25	CEBPB	chr12:56122841-56123320	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:56121640-56121972	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:56122830-56122987	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:56122887-56123392	IMR90	lung:	n/a	n/a
29	CEBPB	chr12:56121652-56121930	K562	blood:	n/a	n/a
30	CEBPB	chr12:56122709-56123227	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr12:56121649-56121967	IMR90	lung:	n/a	n/a
32	CEBPB	chr12:56121664-56121880	K562	blood:	n/a	n/a
33	CEBPD	chr12:56122497-56123149	HepG2	liver:	n/a	n/a
34	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
35	CHD1	chr12:56122583-56124110	GM12878	blood:	n/a	n/a
36	CHD2	chr12:56122756-56123134	K562	blood:	n/a	n/a
37	CHD2	chr12:56123450-56123487	K562	blood:	n/a	n/a
38	CHD2	chr12:56122152-56122352	GM12878	blood:	n/a	n/a
39	CHD2	chr12:56122688-56124003	GM12878	blood:	n/a	n/a
40	CHD2	chr12:56123446-56123649	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr12:56121684-56123639	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr12:56122792-56123047	HepG2	liver:	n/a	n/a
43	CREB1	chr12:56123070-56123736	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr12:56121976-56123787	HepG2	liver:	n/a	n/a
45	CREB1	chr12:56121956-56122457	A549	lung:	n/a	n/a
46	CREB1	chr12:56122634-56123782	K562	blood:	n/a	n/a
47	CREB1	chr12:56123304-56123630	A549	lung:	n/a	n/a
48	CREB1	chr12:56122699-56123212	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr12:56122651-56123052	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr12:56122785-56123106	A549	lung:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56122634-56122684	HNPCEpiC	eye:	n/a
2	chr12:56122634-56122684	HNPCEpiC	eye:	n/a
3	chr12:56122637-56122687	NB4	blood:	n/a
4	chr12:56123171-56123221	HCPEpiC	choroid plexus:	n/a
5	chr12:56123171-56123221	U87	brain:	n/a
6	chr12:56123972-56124022	Hepatocyte	liver:	n/a
7	chr12:56123038-56123088	AG04449	skin:	fetal
8	chr12:56123602-56123652	A549	lung:	n/a
9	chr12:56123223-56123273	AG10803	skin:	n/a
10	chr12:56123602-56123652	HepG2	liver:	n/a
11	chr12:56122120-56122170	LNCaP	prostate:	n/a
12	chr12:56122958-56123008	NHBE	bronchial:	n/a
13	chr12:56122958-56123008	Caco-2	colon:	n/a
14	chr12:56122958-56123008	AG10803	skin:	n/a
15	chr12:56123223-56123273	HCT-116	colon:	n/a
16	chr12:56122958-56123008	SKMC	muscle:	n/a
17	chr12:56123038-56123088	ovcar-3	ovarian:	n/a
18	chr12:56122970-56123020	HRCEpiC	kidney:	n/a
19	chr12:56123038-56123088	NHBE	bronchial:	n/a
20	chr12:56123529-56123579	HRPEpiC	eye:	n/a
21	chr12:56123102-56123152	AG09309	skin:	n/a
22	chr12:56122970-56123020	CMK	blood:	n/a
23	chr12:56123522-56123572	T-47D	breast:	n/a
24	chr12:56123038-56123088	AG09319	gingival:	n/a
25	chr12:56122970-56123020	K562	blood:	n/a
26	chr12:56123972-56124022	NH-A	brain:	n/a
27	chr12:56123102-56123152	AG09319	gingival:	n/a
28	chr12:56123038-56123088	HCT-116	colon:	n/a
29	chr12:56122120-56122170	ovcar-3	ovarian:	n/a
30	chr12:56122242-56122292	HMEC	breast:	n/a
31	chr12:56123102-56123152	SK-N-SH	brain:	n/a
32	chr12:56123972-56124022	PFSK-1	brain:	n/a
33	chr12:56123961-56124011	SK-N-MC	brain:	n/a
34	chr12:56122958-56123008	HL-60	blood:	n/a
35	chr12:56122983-56123033	AG04450	lung:	fetal
36	chr12:56122983-56123033	HCF	heart:	n/a
37	chr12:56123602-56123652	ProgFib	skin:	n/a
38	chr12:56123038-56123088	HMEC	breast:	n/a
39	chr12:56123038-56123088	Hepatocyte	liver:	n/a
40	chr12:56122634-56122684	IMR90	lung:	fetal
41	chr12:56122970-56123020	NH-A	brain:	n/a
42	chr12:56122229-56122279	GM19239	blood:	n/a
43	chr12:56122242-56122292	NHBE	bronchial:	n/a
44	chr12:56123038-56123088	LNCaP	prostate:	n/a
45	chr12:56123171-56123221	A549	lung:	n/a
46	chr12:56123529-56123579	HEEpiC	esophagus:	n/a
47	chr12:56123223-56123273	GM12892	blood:	n/a
48	chr12:56122229-56122279	IMR90	lung:	fetal
49	chr12:56123223-56123273	HUVEC	blood vessel:	n/a
50	chr12:56122634-56122684	NH-A	brain:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56104896..56106917-chr12:56120568..56123344,2	MCF-7	breast:
2	chr12:56122789..56124369-chr12:56333771..56335626,2	K562	blood:
3	chr12:56098994..56103683-chr12:56119699..56126107,8	MCF-7	breast:
4	chr1:86046432..86047170-chr12:56122507..56123451,2	Hela-S3	cervix:
5	chr12:56120515..56122201-chr12:56332595..56334238,2	K562	blood:
6	chr12:56122006..56124318-chr12:56366555..56368429,2	MCF-7	breast:
7	chr12:56120864..56122982-chr12:56435772..56437272,2	MCF-7	breast:
8	chr12:56123588..56124423-chr16:2205173..2205815,2	Hela-S3	cervix:
9	chr12:56123120..56123867-chr12:104234782..104235765,2	Hela-S3	cervix:
10	chr12:56120734..56123554-chr12:56508983..56512643,4	K562	blood:
11	chr12:56122056..56124298-chr12:56209901..56211592,3	MCF-7	breast:
12	chr12:56122869..56125030-chr12:56332847..56335271,2	K562	blood:
13	chr11:118965821..118966636-chr12:56122320..56122897,2	MCF-7	breast:
14	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
15	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:
16	chr12:56121964..56122628-chr15:41047145..41047901,2	Hela-S3	cervix:
17	chr12:56122094..56122749-chr15:66796752..66797619,2	Hela-S3	cervix:
18	chr12:56121284..56123165-chr12:56709581..56711185,2	K562	blood:
19	chr12:56121253..56122830-chr12:56553054..56555339,2	MCF-7	breast:
20	chr12:56122473..56123456-chr12:120730401..120731352,2	Hela-S3	cervix:
21	chr12:56088543..56091362-chr12:56123816..56126744,2	K562	blood:
22	chr12:56120093..56124486-chr12:56434488..56437037,3	K562	blood:
23	chr12:56109904..56110634-chr12:56122400..56123493,3	Hela-S3	cervix:
24	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:
25	chr12:56119392..56124555-chr12:56134719..56139155,10	MCF-7	breast:
26	chr12:56122088..56125310-chr12:56509016..56512267,4	MCF-7	breast:
27	chr12:56099553..56102772-chr12:56120884..56124385,4	K562	blood:
28	chr12:56123003..56123644-chr9:34651602..34652337,2	HCT-116	colon:
29	chr12:56120591..56123197-chr12:56472700..56474357,3	MCF-7	breast:
30	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
31	chr12:56121691..56123442-chr12:56362303..56365050,2	MCF-7	breast:
32	chr12:56120533..56123958-chr12:56496918..56499602,3	K562	blood:
33	chr12:49760432..49761123-chr12:56123061..56123918,2	Hela-S3	cervix:
34	chr10:74033321..74034042-chr12:56122197..56122871,2	Hela-S3	cervix:
35	chr12:56120240..56124369-chr12:56508983..56513755,7	K562	blood:
36	chr12:56122770..56125786-chr12:56400050..56403264,3	K562	blood:
37	chr12:56121418..56123151-chr12:56510609..56512159,2	MCF-7	breast:
38	chr12:56120003..56122736-chr12:56659216..56661326,3	K562	blood:
39	chr12:56122035..56125892-chr12:56210581..56213887,4	K562	blood:
40	chr12:56121335..56123958-chr12:56496918..56499786,2	K562	blood:
41	chr12:56120972..56124195-chr12:56135682..56138639,8	MCF-7	breast:
42	chr12:56122663..56123436-chr20:56963760..56964515,2	NB4	blood:
43	chr12:56121796..56124636-chr12:56320580..56323901,5	MCF-7	breast:
44	chr12:56123089..56123589-chr17:80415974..80416712,3	HCT-116	colon:
45	chr12:56120851..56123825-chr12:56659216..56662167,3	K562	blood:
46	chr1:156182629..156183186-chr12:56122790..56123462,2	Hela-S3	cervix:
47	chr12:56123107..56123678-chr17:73775340..73775880,2	Hela-S3	cervix:
48	chr12:56122039..56122873-chr3:174158485..174159158,2	Hela-S3	cervix:
49	chr12:56121261..56123274-chr12:56389263..56391155,2	K562	blood:
50	chr12:56122664..56123207-chr21:15755194..15755994,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RDH5-1	chr12:56122928-56123139	NONHSAT028680
2	lnc-RDH5-1	chr12:56123446-56124979	NONHSAT028680
3	lnc-RDH5-1	chr12:56122888-56123139	ENSG00000258056.1
4	lnc-RDH5-1	chr12:56123446-56124467	ENSG00000258056.1

No data

Variant related genes	Relation type
CD63	TF binding region
ENSG00000258056	TF binding region
CD63	CpG island
ENSG00000258056	CpG island
ENSG00000135424	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000258311	chromatin interactions
ENSG00000258345	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000170515	chromatin interactions
ENSG00000082153	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000155304	chromatin interactions
ENSG00000135441	chromatin interactions
ENSG00000144785	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000185664	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000135392	chromatin interactions
ENSG00000182796	chromatin interactions
ENSG00000123411	chromatin interactions
ENSG00000177694	chromatin interactions
ENSG00000124164	chromatin interactions
ENSG00000260238	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000160783	chromatin interactions
ENSG00000174442	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000139531	chromatin interactions
ENSG00000170439	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000257390	chromatin interactions
ENSG00000123353	chromatin interactions
ENSG00000135469	chromatin interactions
ENSG00000174444	chromatin interactions
ENSG00000205323	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000137070	chromatin interactions
ENSG00000142871	chromatin interactions
ENSG00000135414	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000123374	chromatin interactions
ENSG00000213625	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000116678	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000257727	chromatin interactions
ENSG00000135046	chromatin interactions
ENSG00000111540	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569890668	chr12:56121551-56121552	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
2	rs148140231	chr12:56121576-56121577	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs536904959	chr12:56121680-56121681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs551955609	chr12:56121855-56121856	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
5	rs570282276	chr12:56121870-56121871	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
6	rs534426921	chr12:56121893-56121894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
7	rs552827136	chr12:56121894-56121895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs574452526	chr12:56121924-56121925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs535152318	chr12:56121929-56121930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs556909486	chr12:56121937-56121938	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs372298257	chr12:56121978-56121979	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
12	rs183857013	chr12:56122001-56122002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
13	rs564693257	chr12:56122002-56122003	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
14	rs573444044	chr12:56122013-56122014	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs377548535	chr12:56122020-56122021	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs540808587	chr12:56122025-56122026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs1804039	chr12:56122063-56122064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
18	rs370209933	chr12:56122066-56122067	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
19	rs200749647	chr12:56122082-56122083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
20	rs3138131	chr12:56122084-56122085	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
21	rs367734010	chr12:56122103-56122104	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
22	rs370502076	chr12:56122111-56122112	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
23	rs11542878	chr12:56122126-56122127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
24	rs199930434	chr12:56122161-56122162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
25	rs201894979	chr12:56122163-56122164	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
26	rs368355489	chr12:56122169-56122170	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
27	rs530735098	chr12:56122200-56122201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
28	rs552017031	chr12:56122230-56122231	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
29	rs188177850	chr12:56122244-56122245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
30	rs369764695	chr12:56122392-56122393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
31	rs528297818	chr12:56122433-56122434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
32	rs374620980	chr12:56122479-56122480	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
33	rs547401184	chr12:56122543-56122544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
34	rs147640056	chr12:56122641-56122642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
35	rs377370653	chr12:56122663-56122664	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
36	rs35326964	chr12:56122666-56122667	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
37	rs193257030	chr12:56122673-56122674	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
38	rs142309837	chr12:56122704-56122705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
39	rs568845414	chr12:56122778-56122779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
40	rs113802923	chr12:56122821-56122822	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
41	rs370497261	chr12:56122865-56122866	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
42	rs540154778	chr12:56122900-56122901	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
43	rs12818008	chr12:56122915-56122916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
44	rs544984302	chr12:56122933-56122934	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
45	rs207472948	chr12:56123112-56123113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
46	rs558525968	chr12:56123126-56123127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
47	rs573572773	chr12:56123129-56123130	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
48	rs772256	chr12:56123144-56123145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	43 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2231463	chr12:56123172-56123173	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
50	rs574051616	chr12:56123186-56123187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	19115005	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56116600-56121800	Transcr. at gene 5' and 3'	HSMM	muscle
2	chr12:56116600-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:56116800-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56117600-56122000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr12:56117800-56122200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:56118200-56121600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr12:56118800-56121600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:56118800-56122000	Transcr. at gene 5' and 3'	NHLF	lung
9	chr12:56119000-56121600	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr12:56119600-56121600	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
11	chr12:56119800-56122000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
12	chr12:56120400-56121600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:56120400-56121800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:56120400-56122000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:56120400-56122000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr12:56120400-56122000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
17	chr12:56120400-56122000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
18	chr12:56120400-56122200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr12:56120600-56121600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr12:56120600-56121600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:56120600-56121600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:56120600-56121600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
23	chr12:56120600-56121600	Enhancers	Small Intestine	intestine
24	chr12:56120600-56121800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:56120600-56121800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:56120600-56121800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:56120600-56121800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
28	chr12:56120600-56122000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:56120600-56122000	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
30	chr12:56120600-56122000	Transcr. at gene 5' and 3'	NHEK	skin
31	chr12:56120600-56122200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:56120800-56121600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
33	chr12:56120800-56121600	Enhancers	Fetal Brain Male	brain
34	chr12:56120800-56121600	Transcr. at gene 5' and 3'	HepG2	liver
35	chr12:56120800-56121800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:56120800-56121800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:56120800-56121800	Flanking Active TSS	Stomach Mucosa	stomach
38	chr12:56120800-56122000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:56120800-56122000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
40	chr12:56120800-56122000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:56120800-56122000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
42	chr12:56120800-56122000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
43	chr12:56120800-56122000	Flanking Active TSS	Left Ventricle	heart
44	chr12:56120800-56122000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:56121000-56121600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:56121000-56121600	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
47	chr12:56121000-56121600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:56121000-56121600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:56121000-56121600	Flanking Active TSS	Fetal Kidney	kidney
50	chr12:56121000-56121600	Flanking Active TSS	Pancreas	Pancrea

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