Variant report

Variant	esv1828759
Chromosome Location	chr12:50349765-50366300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:836)
CpG islands
(count:1344)
Chromatin interactive
region (count:37)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr12:50360656-50361096	A549	lung:	n/a	n/a
2	BACH1	chr12:50360698-50361605	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:50361370-50361539	K562	blood:	n/a	n/a
4	BCL3	chr12:50360675-50361617	A549	lung:	n/a	chr12:50360893-50360906
5	BHLHE40	chr12:50360554-50360555	HepG2	liver:	n/a	n/a
6	BHLHE40	chr12:50360839-50361028	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:50361245-50361724	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:50360337-50361780	K562	blood:	n/a	n/a
9	BHLHE40	chr12:50362269-50362497	K562	blood:	n/a	n/a
10	BHLHE40	chr12:50356808-50357069	A549	lung:	n/a	n/a
11	BHLHE40	chr12:50362156-50362493	HepG2	liver:	n/a	n/a
12	BHLHE40	chr12:50360987-50361630	A549	lung:	n/a	n/a
13	BHLHE40	chr12:50356805-50357004	HepG2	liver:	n/a	n/a
14	BHLHE40	chr12:50361251-50361775	HepG2	liver:	n/a	n/a
15	BRCA1	chr12:50360947-50361127	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr12:50360862-50361041	HepG2	liver:	n/a	n/a
17	BRCA1	chr12:50361306-50361504	HepG2	liver:	n/a	n/a
18	CBX3	chr12:50360748-50361605	K562	blood:	n/a	n/a
19	CCNT2	chr12:50360890-50361522	K562	blood:	n/a	n/a
20	CEBPB	chr12:50349648-50349830	HepG2	liver:	n/a	chr12:50349769-50349780
21	CEBPB	chr12:50349758-50349786	Hela-S3	cervix:	n/a	chr12:50349769-50349780
22	CEBPB	chr12:50360906-50361147	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:50361405-50361419	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr12:50356748-50357096	Hela-S3	cervix:	n/a	n/a
25	CHD1	chr12:50361251-50361329	GM12878	blood:	n/a	n/a
26	CHD2	chr12:50360779-50361690	K562	blood:	n/a	n/a
27	CHD2	chr12:50360908-50360924	HepG2	liver:	n/a	n/a
28	CHD2	chr12:50360872-50361511	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr12:50361216-50361434	HepG2	liver:	n/a	n/a
30	CHD2	chr12:50360889-50361061	GM12878	blood:	n/a	n/a
31	CHD2	chr12:50353482-50354376	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr12:50360776-50361203	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr12:50356719-50357172	Hela-S3	cervix:	n/a	n/a
34	CREB1	chr12:50360779-50361104	A549	lung:	n/a	n/a
35	CREB1	chr12:50361159-50361599	A549	lung:	n/a	n/a
36	CREB1	chr12:50360844-50360989	A549	lung:	n/a	n/a
37	CTCF	chr12:50360544-50360546	GM19238	blood:	n/a	n/a
38	CTCF	chr12:50362240-50362390	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr12:50355870-50355957	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:50360900-50361050	GM12873	blood:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942
41	CTCF	chr12:50360662-50361806	H1-hESC	embryonic stem cell:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
42	CTCF	chr12:50361300-50361450	GM12867	blood:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
43	CTCF	chr12:50360596-50360718	GM19239	blood:	n/a	n/a
44	CTCF	chr12:50361300-50361450	HepG2	liver:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
45	CTCF	chr12:50360880-50361030	K562	blood:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942
46	CTCF	chr12:50360260-50360410	SAEC	small airway:	n/a	n/a
47	CTCF	chr12:50362535-50362619	K562	blood:	n/a	n/a
48	CTCF	chr12:50360777-50361576	MCF-7	breast:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
49	CTCF	chr12:50361640-50361790	HepG2	liver:	n/a	n/a
50	CTCF	chr12:50360752-50361745	GM19238	blood:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50355995-50356045	K562	blood:	n/a
2	chr12:50354840-50354890	HepG2	liver:	n/a
3	chr12:50355995-50356045	K562	blood:	n/a
4	chr12:50354840-50354890	HepG2	liver:	n/a
5	chr12:50351980-50352030	HNPCEpiC	eye:	n/a
6	chr12:50365827-50365877	GM12891	blood:	n/a
7	chr12:50360945-50360995	NHDF-neo	bronchial:	n/a
8	chr12:50355307-50355357	AG09319	gingival:	n/a
9	chr12:50356869-50356919	ECC-1	luminal epithelium:	n/a
10	chr12:50361467-50361517	MCF-7	breast:	n/a
11	chr12:50354962-50355012	NT2-D1	testis:	n/a
12	chr12:50366280-50366330	HAEpiC	amniotic membrane:	n/a
13	chr12:50361401-50361451	AG04449	skin:	fetal
14	chr12:50354840-50354890	ECC-1	luminal epithelium:	n/a
15	chr12:50355821-50355871	K562	blood:	n/a
16	chr12:50355995-50356045	NH-A	brain:	n/a
17	chr12:50353951-50354001	RPTEC	kidney:	n/a
18	chr12:50351980-50352030	AG04449	skin:	fetal
19	chr12:50355307-50355357	SK-N-MC	brain:	n/a
20	chr12:50361573-50361623	HepG2	liver:	n/a
21	chr12:50365827-50365877	HCF	heart:	n/a
22	chr12:50351980-50352030	HCM	heart:	n/a
23	chr12:50359051-50359101	AG10803	skin:	n/a
24	chr12:50361467-50361517	SAEC	small airway:	n/a
25	chr12:50355995-50356045	GM12892	blood:	n/a
26	chr12:50355995-50356045	PANC-1	pancreas:	n/a
27	chr12:50354962-50355012	HCF	heart:	n/a
28	chr12:50361401-50361451	HepG2	liver:	n/a
29	chr12:50354998-50355048	HCPEpiC	choroid plexus:	n/a
30	chr12:50356869-50356919	IMR90	lung:	fetal
31	chr12:50350299-50350349	HEEpiC	esophagus:	n/a
32	chr12:50361573-50361623	H1-hESC	embryonic stem cell:	embryo
33	chr12:50355307-50355357	HRE	kidney:	n/a
34	chr12:50366280-50366330	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:50360945-50360995	AG04449	skin:	fetal
36	chr12:50354840-50354890	CMK	blood:	n/a
37	chr12:50365171-50365221	Jurkat	blood:	n/a
38	chr12:50351980-50352030	HL-60	blood:	n/a
39	chr12:50361467-50361517	AG04450	lung:	fetal
40	chr12:50350299-50350349	Jurkat	blood:	n/a
41	chr12:50365171-50365221	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:50355307-50355357	HUVEC	blood vessel:	n/a
43	chr12:50361294-50361344	Jurkat	blood:	n/a
44	chr12:50361573-50361623	PANC-1	pancreas:	n/a
45	chr12:50361294-50361344	HNPCEpiC	eye:	n/a
46	chr12:50354998-50355048	ECC-1	luminal epithelium:	n/a
47	chr12:50355995-50356045	NB4	blood:	n/a
48	chr12:50361573-50361623	LNCaP	prostate:	n/a
49	chr12:50350299-50350349	SK-N-SH	brain:	n/a
50	chr12:50354962-50355012	AoSMC	blood vessel:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50341404..50344763-chr12:50349477..50352440,3	MCF-7	breast:
2	chr12:50358701..50362803-chr12:50449341..50451682,4	MCF-7	breast:
3	chr12:50359827..50361683-chr12:50418817..50420770,2	MCF-7	breast:
4	chr12:50358725..50360961-chr12:50462832..50465036,2	K562	blood:
5	chr12:50360734..50361410-chr12:50451208..50452167,2	MCF-7	breast:
6	chr12:50360423..50362281-chr12:50463512..50464987,20	MCF-7	breast:
7	chr12:50353349..50353967-chr7:86781674..86782611,2	Hela-S3	cervix:
8	chr12:50359402..50360099-chr12:50450046..50450669,2	MCF-7	breast:
9	chr12:50347426..50349461-chr12:50350672..50352646,2	K562	blood:
10	chr12:50154851..50157744-chr12:50364443..50366192,2	K562	blood:
11	chr12:50361365..50361915-chr12:50451095..50451753,2	MCF-7	breast:
12	chr12:50360101..50361853-chr12:50463828..50465034,15	K562	blood:
13	chr12:50343242..50347399-chr12:50348384..50352542,7	K562	blood:
14	chr12:50360531..50361497-chr12:50464033..50464946,8	MCF-7	breast:
15	chr12:50361058..50363357-chr12:50474948..50477401,2	MCF-7	breast:
16	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
17	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
18	chr12:50235392..50237047-chr12:50351829..50354017,3	MCF-7	breast:
19	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:
20	chr12:50362211..50363749-chr12:50366597..50368397,2	K562	blood:
21	chr12:50361277..50361786-chr12:50575239..50575897,2	MCF-7	breast:
22	chr1:17231927..17232615-chr12:50353208..50354029,2	Hela-S3	cervix:
23	chr12:50364552..50366363-chr12:50449249..50451559,2	MCF-7	breast:
24	chr12:50361097..50363136-chr12:50368065..50369960,2	MCF-7	breast:
25	chr12:50358386..50360982-chr12:50417949..50420523,2	MCF-7	breast:
26	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
27	chr12:50352910..50356046-chr12:50357826..50360762,4	K562	blood:
28	chr12:50359856..50363195-chr12:50464299..50467277,4	MCF-7	breast:
29	chr12:50361163..50363530-chr12:50480860..50483276,2	MCF-7	breast:
30	chr12:50316423..50318171-chr12:50364926..50367311,2	K562	blood:
31	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
32	chr12:50360045..50361666-chr12:50451717..50454140,2	MCF-7	breast:
33	chr12:50353124..50353737-chr4:120987285..120988120,2	Hela-S3	cervix:
34	chr12:50360085..50362096-chr12:50467242..50469135,2	K562	blood:
35	chr12:50362033..50363685-chr12:50379610..50381169,2	K562	blood:
36	chr12:50348029..50350628-chr12:50451106..50452724,2	MCF-7	breast:
37	chr12:50356730..50360184-chr12:50363549..50366213,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RACGAP1-1	chr12:50356450-50356707	ENSG00000257588.1
2	lnc-RACGAP1-2	chr12:50349368-50349908	ENSG00000257378.1
3	lnc-RACGAP1-1	chr12:50352655-50353427	ENSG00000257588.1
4	lnc-RACGAP1-1	chr12:50356450-50356566	ENSG00000257588.1

No data

Variant related genes	Relation type
ENSG00000257378	TF binding region
AQP5	TF binding region
AQP6	TF binding region
ENSG00000257588	TF binding region
ENSG00000257378	CpG island
AQP5	CpG island
AQP6	CpG island
ENSG00000257588	CpG island
ENSG00000161798	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000167580	chromatin interactions
ENSG00000257378	chromatin interactions
ENSG00000257588	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000161800	chromatin interactions
ENSG00000066117	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000186666	chromatin interactions
ENSG00000257771	chromatin interactions
ENSG00000086159	chromatin interactions

Extended variants
information (count: 770 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs467323	chr12:50349765-50349766	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs137959340	chr12:50349777-50349778	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs35190790	chr12:50349783-50349784	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs35104166	chr12:50349804-50349805	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs56160615	chr12:50349815-50349816	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs149425435	chr12:50349816-50349817	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs185701115	chr12:50349864-50349865	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs74091160	chr12:50349921-50349922	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs144600878	chr12:50349932-50349933	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs375057124	chr12:50349942-50349943	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs138553011	chr12:50349951-50349952	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs143040820	chr12:50349956-50349957	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs144410593	chr12:50349979-50349980	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550006597	chr12:50350013-50350014	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs148800696	chr12:50350030-50350031	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs569905754	chr12:50350031-50350032	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs190748197	chr12:50350092-50350093	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs141505727	chr12:50350095-50350096	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs369989916	chr12:50350151-50350152	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs549630130	chr12:50350174-50350175	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs566213196	chr12:50350210-50350211	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs150878207	chr12:50350264-50350265	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs139933330	chr12:50350270-50350271	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs374844138	chr12:50350274-50350275	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs145489632	chr12:50350278-50350279	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs147666604	chr12:50350292-50350293	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs60887132	chr12:50350298-50350299	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149776268	chr12:50350299-50350300	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs145603433	chr12:50350302-50350303	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs560850476	chr12:50350309-50350310	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs577861581	chr12:50350354-50350355	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs372756747	chr12:50350367-50350368	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs148904180	chr12:50350392-50350393	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs143529505	chr12:50350414-50350415	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs146499105	chr12:50350437-50350438	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs557230385	chr12:50350465-50350466	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs186839162	chr12:50350478-50350479	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs542433413	chr12:50350485-50350486	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376984675	chr12:50350609-50350610	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs77904078	chr12:50350619-50350620	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541028359	chr12:50350629-50350630	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs144704751	chr12:50350770-50350771	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138521926	chr12:50350776-50350777	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140054228	chr12:50350786-50350787	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150302183	chr12:50350798-50350799	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138918672	chr12:50350799-50350800	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149432877	chr12:50350815-50350816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144781042	chr12:50350857-50350858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138508276	chr12:50350933-50350934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143902080	chr12:50350937-50350938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50339400-50353600	Weak transcription	Right Atrium	heart
2	chr12:50347400-50353400	Weak transcription	Pancreas	Pancrea
3	chr12:50347800-50349800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:50348400-50350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:50348800-50349800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr12:50348800-50349800	Weak transcription	Hela-S3	cervix
7	chr12:50348800-50350200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr12:50348800-50350400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr12:50348800-50350800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr12:50349000-50350000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
11	chr12:50349200-50350000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr12:50349200-50350200	Bivalent Enhancer	Placenta	Placenta
13	chr12:50349200-50350400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr12:50349200-50350800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr12:50349400-50349800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr12:50349400-50349800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr12:50349400-50350200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr12:50349600-50349800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr12:50349600-50349800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:50349600-50349800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr12:50349600-50350200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:50349600-50350600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:50349600-50353400	Weak transcription	Spleen	Spleen
24	chr12:50349800-50350000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr12:50349800-50350000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:50349800-50350000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr12:50349800-50350000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:50349800-50350000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr12:50349800-50350000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
30	chr12:50349800-50350400	Enhancers	Hela-S3	cervix
31	chr12:50349800-50350600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:50350000-50350200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:50350000-50350200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:50350000-50350200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr12:50350000-50350400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr12:50350200-50350400	Bivalent Enhancer	GM12878-XiMat	blood
37	chr12:50350200-50350400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr12:50350200-50350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:50350200-50352800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:50350400-50350600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:50350400-50350600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr12:50350400-50350600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr12:50350400-50350600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:50350400-50350800	Weak transcription	Hela-S3	cervix
45	chr12:50350600-50350800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
46	chr12:50350600-50352200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:50350600-50352400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:50350800-50352200	Enhancers	Hela-S3	cervix
49	chr12:50351000-50351200	Enhancers	Gastric	stomach
50	chr12:50351400-50353200	Weak transcription	Gastric	stomach

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