Variant report

Variant	esv3327626
Chromosome Location	chr12:42537735-42540233
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	chr12:42538651-42538877	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:42539495-42539897	K562	blood:	n/a	n/a
3	ARID3A	chr12:42538586-42539219	K562	blood:	n/a	n/a
4	ATF2	chr12:42538336-42539041	GM12878	blood:	n/a	n/a
5	ATF2	chr12:42537428-42537937	GM12878	blood:	n/a	n/a
6	ATF3	chr12:42538536-42538935	K562	blood:	n/a	n/a
7	BACH1	chr12:42538606-42539221	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:42538252-42538338	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr12:42538427-42538895	GM12878	blood:	n/a	chr12:42538554-42538567 chr12:42538556-42538569 chr12:42538553-42538566 chr12:42538503-42538512 chr12:42538559-42538572 chr12:42538562-42538571 chr12:42538452-42538465 chr12:42538563-42538576 chr12:42538523-42538536 chr12:42538559-42538568
10	BCL3	chr12:42538495-42539699	A549	lung:	n/a	chr12:42538554-42538567 chr12:42538556-42538569 chr12:42538553-42538566 chr12:42538503-42538512 chr12:42538559-42538572 chr12:42538562-42538571 chr12:42538563-42538576 chr12:42538523-42538536 chr12:42538559-42538568
11	BCL3	chr12:42538432-42539554	A549	lung:	n/a	chr12:42538554-42538567 chr12:42538556-42538569 chr12:42538553-42538566 chr12:42538503-42538512 chr12:42538559-42538572 chr12:42538562-42538571 chr12:42538452-42538465 chr12:42538563-42538576 chr12:42538523-42538536 chr12:42538559-42538568
12	BCLAF1	chr12:42538471-42539046	GM12878	blood:	n/a	chr12:42538554-42538567 chr12:42538556-42538569 chr12:42538553-42538566 chr12:42538503-42538512 chr12:42538559-42538572 chr12:42538562-42538571 chr12:42538563-42538576 chr12:42538523-42538536 chr12:42538559-42538568
13	BCLAF1	chr12:42538419-42539046	GM12878	blood:	n/a	chr12:42538554-42538567 chr12:42538556-42538569 chr12:42538553-42538566 chr12:42538503-42538512 chr12:42538559-42538572 chr12:42538562-42538571 chr12:42538452-42538465 chr12:42538563-42538576 chr12:42538523-42538536 chr12:42538559-42538568
14	BHLHE40	chr12:42538218-42539801	K562	blood:	n/a	chr12:42538556-42538572 chr12:42538554-42538570 chr12:42538553-42538569
15	BHLHE40	chr12:42538416-42539375	GM12878	blood:	n/a	chr12:42538556-42538572 chr12:42538554-42538570 chr12:42538553-42538569
16	BRCA1	chr12:42538413-42539112	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr12:42538497-42539742	K562	blood:	n/a	n/a
18	CCNT2	chr12:42538035-42539156	K562	blood:	n/a	chr12:42538714-42538723 chr12:42538719-42538728
19	CEBPB	chr12:42538638-42538807	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:42538584-42539042	K562	blood:	n/a	n/a
21	CEBPB	chr12:42538521-42539016	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:42538552-42539246	K562	blood:	n/a	n/a
23	CEBPB	chr12:42538501-42539199	MCF-7	breast:	n/a	n/a
24	CEBPB	chr12:42538548-42539166	IMR90	lung:	n/a	n/a
25	CEBPB	chr12:42538485-42539346	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:42538401-42539186	A549	lung:	n/a	n/a
27	CEBPB	chr12:42538552-42539035	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:42538486-42539144	GM12878	blood:	n/a	n/a
29	CEBPB	chr12:42538604-42539141	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr12:42537222-42537988	Hela-S3	cervix:	n/a	chr12:42537707-42537720 chr12:42537684-42537697
31	CEBPB	chr12:42537265-42537796	IMR90	lung:	n/a	chr12:42537707-42537720 chr12:42537684-42537697
32	CEBPD	chr12:42538223-42538976	HepG2	liver:	n/a	n/a
33	CEBPD	chr12:42538533-42538961	HepG2	liver:	n/a	n/a
34	CHD1	chr12:42537635-42539123	GM12878	blood:	n/a	chr12:42538048-42538058
35	CHD1	chr12:42538919-42539148	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr12:42537442-42539425	IMR90	lung:	n/a	chr12:42538048-42538058
37	CHD2	chr12:42538158-42539111	GM12878	blood:	n/a	n/a
38	CHD2	chr12:42538472-42538924	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr12:42537936-42539002	HepG2	liver:	n/a	chr12:42538048-42538058
40	CHD2	chr12:42538218-42539690	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr12:42537983-42539083	K562	blood:	n/a	chr12:42538048-42538058
42	CREB1	chr12:42538491-42538891	A549	lung:	n/a	n/a
43	CREB1	chr12:42538313-42539114	K562	blood:	n/a	n/a
44	CREB1	chr12:42538018-42539005	GM12878	blood:	n/a	n/a
45	CREB1	chr12:42538357-42538938	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr12:42538343-42539040	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr12:42538269-42539255	HepG2	liver:	n/a	n/a
48	CREB1	chr12:42538119-42538969	A549	lung:	n/a	n/a
49	CTBP2	chr12:42538158-42538995	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr12:42538560-42538710	GM12874	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42538806-42538856	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:42538806-42538856	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:42538536-42538586	H1-hESC	embryonic stem cell:	embryo
4	chr12:42539512-42539562	ProgFib	skin:	n/a
5	chr12:42538840-42538890	GM12892	blood:	n/a
6	chr12:42538815-42538865	HCPEpiC	choroid plexus:	n/a
7	chr12:42538813-42538863	AG10803	skin:	n/a
8	chr12:42538815-42538865	Jurkat	blood:	n/a
9	chr12:42538818-42538868	HCPEpiC	choroid plexus:	n/a
10	chr12:42538806-42538856	HRCEpiC	kidney:	n/a
11	chr12:42539391-42539441	SAEC	small airway:	n/a
12	chr12:42538813-42538863	ECC-1	luminal epithelium:	n/a
13	chr12:42539512-42539562	SKMC	muscle:	n/a
14	chr12:42538820-42538870	ECC-1	luminal epithelium:	n/a
15	chr12:42538813-42538863	AG09319	gingival:	n/a
16	chr12:42538813-42538863	HCF	heart:	n/a
17	chr12:42538627-42538677	Hela-S3	cervix:	n/a
18	chr12:42538840-42538890	K562	blood:	n/a
19	chr12:42539391-42539441	SK-N-SH_RA	brain:	n/a
20	chr12:42538901-42538951	Hela-S3	cervix:	n/a
21	chr12:42538901-42538951	HNPCEpiC	eye:	n/a
22	chr12:42539512-42539562	GM12891	blood:	n/a
23	chr12:42539391-42539441	LNCaP	prostate:	n/a
24	chr12:42538813-42538863	HNPCEpiC	eye:	n/a
25	chr12:42538820-42538870	AoSMC	blood vessel:	n/a
26	chr12:42538901-42538951	SK-N-SH_RA	brain:	n/a
27	chr12:42538901-42538951	HCM	heart:	n/a
28	chr12:42538191-42538241	SK-N-SH	brain:	n/a
29	chr12:42538840-42538890	NT2-D1	testis:	n/a
30	chr12:42538901-42538951	T-47D	breast:	n/a
31	chr12:42538815-42538865	ProgFib	skin:	n/a
32	chr12:42538191-42538241	SAEC	small airway:	n/a
33	chr12:42538627-42538677	H1-hESC	embryonic stem cell:	embryo
34	chr12:42538818-42538868	GM19239	blood:	n/a
35	chr12:42538840-42538890	HIPEpiC	eye:	n/a
36	chr12:42538818-42538868	HCF	heart:	n/a
37	chr12:42538818-42538868	HRPEpiC	eye:	n/a
38	chr12:42538536-42538586	RPTEC	kidney:	n/a
39	chr12:42538818-42538868	LNCaP	prostate:	n/a
40	chr12:42538818-42538868	U87	brain:	n/a
41	chr12:42539391-42539441	SK-N-MC	brain:	n/a
42	chr12:42538901-42538951	SK-N-MC	brain:	n/a
43	chr12:42538627-42538677	SAEC	small airway:	n/a
44	chr12:42539512-42539562	HMEC	breast:	n/a
45	chr12:42538901-42538951	AG09309	skin:	n/a
46	chr12:42538840-42538890	GM12891	blood:	n/a
47	chr12:42538813-42538863	Caco-2	colon:	n/a
48	chr12:42538820-42538870	NH-A	brain:	n/a
49	chr12:42539391-42539441	HRPEpiC	eye:	n/a
50	chr12:42538901-42538951	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
2	chr12:42526307..42530299-chr12:42534078..42537991,4	K562	blood:
3	chr12:42536329..42538308-chr12:42715319..42718014,2	K562	blood:
4	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:
5	chr12:42538388..42538936-chr17:27051997..27052965,2	Hela-S3	cervix:
6	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
7	chr12:42538196..42538725-chr3:52017500..52018159,2	Hela-S3	cervix:
8	chr12:42537136..42539433-chr12:42719521..42721782,2	K562	blood:
9	chr12:42537704..42540061-chr12:42725418..42727107,2	K562	blood:
10	chr12:42538702..42539493-chr17:54990934..54991901,2	NB4	blood:
11	chr12:42538273..42538877-chr2:217363658..217364473,2	HCT-116	colon:
12	chr12:42537037..42538708-chr12:42539498..42541972,3	MCF-7	breast:
13	chr12:42537957..42540928-chr12:42622624..42625244,2	MCF-7	breast:
14	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
15	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
16	chr12:42526307..42529075-chr12:42536491..42538067,2	K562	blood:
17	chr12:42536520..42538445-chr12:42636169..42638853,2	MCF-7	breast:
18	chr12:42538182..42538984-chr5:162864383..162865023,2	Hela-S3	cervix:
19	chr10:74927339..74927965-chr12:42538056..42538844,2	Hela-S3	cervix:
20	chr12:42531594..42533278-chr12:42535914..42538108,2	K562	blood:
21	chr12:42539265..42541316-chr12:42719076..42720974,2	K562	blood:
22	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
23	chr12:42538608..42539586-chr6:26056616..26057177,2	NB4	blood:
24	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
25	chr12:42538708..42539351-chr17:73286140..73286679,2	NB4	blood:
26	chr12:42537508..42540547-chr12:42555328..42558210,3	MCF-7	breast:
27	chr12:42539891..42542441-chr12:42748681..42750572,2	MCF-7	breast:
28	chr12:42538313..42538828-chr5:41903843..41904763,2	Hela-S3	cervix:
29	chr12:42537869..42538573-chr7:7221502..7222431,2	Hela-S3	cervix:

Variant related genes	Relation type
GXYLT1	TF binding region
GXYLT1	CpG island
ENSG00000139168	chromatin interactions
ENSG00000015153	chromatin interactions
ENSG00000205765	chromatin interactions
ENSG00000121060	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000134283	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000269367	chromatin interactions
ENSG00000197756	chromatin interactions
ENSG00000113328	chromatin interactions
ENSG00000160602	chromatin interactions
ENSG00000138286	chromatin interactions
ENSG00000122882	chromatin interactions
ENSG00000151233	chromatin interactions
ENSG00000106392	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576053870	chr12:42537763-42537764	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs537069436	chr12:42537764-42537765	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs555357429	chr12:42537780-42537781	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs146444482	chr12:42537805-42537806	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs113168111	chr12:42537806-42537807	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs538191939	chr12:42537840-42537841	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200531109	chr12:42537922-42537923	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs138556264	chr12:42538042-42538043	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs559990899	chr12:42538058-42538059	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs824736	chr12:42538062-42538063	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545565124	chr12:42538104-42538105	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs563644585	chr12:42538110-42538111	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs148850813	chr12:42538119-42538120	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs548968587	chr12:42538234-42538235	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs549907912	chr12:42538257-42538258	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs560905337	chr12:42538274-42538275	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs112525075	chr12:42538320-42538321	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs181558534	chr12:42538334-42538335	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs528457536	chr12:42538361-42538362	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs200877465	chr12:42538427-42538428	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs374195951	chr12:42538432-42538433	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs547317637	chr12:42538442-42538443	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs565949512	chr12:42538460-42538461	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs539272285	chr12:42538469-42538470	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs569345374	chr12:42538470-42538471	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs551525833	chr12:42538487-42538488	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs569657177	chr12:42538490-42538491	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs118022281	chr12:42538530-42538531	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs184375709	chr12:42538569-42538570	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs573723864	chr12:42538636-42538637	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs534576852	chr12:42538651-42538652	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs531867456	chr12:42538670-42538671	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs374973867	chr12:42538690-42538691	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs550085386	chr12:42538720-42538721	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs545294525	chr12:42538725-42538726	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs563857428	chr12:42538742-42538743	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs115041506	chr12:42538785-42538786	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs113994344	chr12:42538786-42538787	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs190244880	chr12:42538794-42538795	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs528502540	chr12:42538806-42538807	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs571857881	chr12:42538818-42538819	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs546938769	chr12:42538823-42538824	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs181169768	chr12:42538825-42538826	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs533210009	chr12:42538828-42538829	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs10880253	chr12:42538837-42538838	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548120901	chr12:42538840-42538841	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs10880254	chr12:42538847-42538848	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536276726	chr12:42538867-42538868	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs567351208	chr12:42538884-42538885	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs534614843	chr12:42538915-42538916	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42533800-42537800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:42534600-42538800	Active TSS	GM12878-XiMat	blood
3	chr12:42536800-42539000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:42536800-42539400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:42537000-42537800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr12:42537000-42537800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr12:42537000-42537800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr12:42537000-42537800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr12:42537000-42537800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:42537000-42537800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr12:42537000-42537800	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr12:42537000-42537800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr12:42537000-42537800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr12:42537000-42537800	Enhancers	Spleen	Spleen
15	chr12:42537000-42537800	Flanking Active TSS	Hela-S3	cervix
16	chr12:42537000-42537800	Flanking Active TSS	HUVEC	blood vessel
17	chr12:42537000-42537800	Flanking Active TSS	K562	blood
18	chr12:42537000-42537800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:42537000-42537800	Flanking Active TSS	NH-A	brain
20	chr12:42537000-42538000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:42537000-42538000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:42537000-42538000	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr12:42537000-42538000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:42537000-42538000	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr12:42537000-42538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:42537000-42538200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:42537000-42538200	Flanking Bivalent TSS/Enh	Dnd41	blood
28	chr12:42537000-42539000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:42537000-42539000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:42537000-42539000	Active TSS	NHLF	lung
31	chr12:42537000-42539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:42537000-42539200	Active TSS	Lung	lung
33	chr12:42537000-42539400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:42537000-42539600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:42537200-42537800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:42537200-42537800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr12:42537200-42537800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:42537200-42537800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:42537200-42537800	Flanking Active TSS	Fetal Heart	heart
40	chr12:42537200-42537800	Flanking Active TSS	Thymus	Thymus
41	chr12:42537200-42538000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:42537200-42538000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:42537200-42538000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr12:42537200-42538000	Flanking Active TSS	Liver	Liver
45	chr12:42537200-42538000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr12:42537200-42538200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr12:42537200-42539000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:42537200-42539000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:42537200-42539200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:42537200-42539200	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links