Variant report

Variant	esv3398371
Chromosome Location	chr12:50016535-50018633
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	chr12:50016661-50016995	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:50017359-50017480	HepG2	liver:	n/a	n/a
3	ATF2	chr12:50016178-50017143	GM12878	blood:	n/a	n/a
4	ATF2	chr12:50016074-50016976	GM12878	blood:	n/a	n/a
5	BACH1	chr12:50016509-50017002	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr12:50017215-50017769	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr12:50016084-50016571	GM12878	blood:	n/a	n/a
8	BCL11A	chr12:50016826-50017132	GM12878	blood:	n/a	n/a
9	BCL11A	chr12:50016190-50016677	GM12878	blood:	n/a	n/a
10	BCL11A	chr12:50016195-50016641	GM12878	blood:	n/a	n/a
11	BCL3	chr12:50016643-50017480	A549	lung:	n/a	chr12:50017225-50017238 chr12:50017419-50017427
12	BCL3	chr12:50016181-50016583	GM12878	blood:	n/a	n/a
13	BCL3	chr12:50017206-50017469	GM12878	blood:	n/a	chr12:50017225-50017238 chr12:50017419-50017427
14	BCL3	chr12:50016854-50017553	GM12878	blood:	n/a	chr12:50017225-50017238 chr12:50017419-50017427
15	BCLAF1	chr12:50016050-50017100	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:50015958-50016736	GM12878	blood:	n/a	chr12:50015984-50015997
17	BHLHE40	chr12:50016328-50017464	K562	blood:	n/a	chr12:50017426-50017442 chr12:50017096-50017112 chr12:50017289-50017305 chr12:50017418-50017434
18	BHLHE40	chr12:50016580-50017140	HepG2	liver:	n/a	chr12:50017096-50017112
19	BHLHE40	chr12:50016627-50016992	A549	lung:	n/a	n/a
20	BHLHE40	chr12:50016148-50017447	GM12878	blood:	n/a	chr12:50017426-50017442 chr12:50017096-50017112 chr12:50017289-50017305 chr12:50017418-50017434
21	BRCA1	chr12:50016621-50017042	HepG2	liver:	n/a	chr12:50016784-50016793
22	BRCA1	chr12:50016617-50017012	GM12878	blood:	n/a	chr12:50016784-50016793
23	BRCA1	chr12:50016601-50016995	H1-hESC	embryonic stem cell:	n/a	chr12:50016784-50016793
24	BRCA1	chr12:50016597-50017121	Hela-S3	cervix:	n/a	chr12:50016784-50016793
25	CBX3	chr12:50016453-50017187	K562	blood:	n/a	n/a
26	CBX3	chr12:50017270-50017539	K562	blood:	n/a	n/a
27	CCNT2	chr12:50016859-50017509	K562	blood:	n/a	chr12:50017185-50017194
28	CEBPB	chr12:50017372-50017424	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:50017330-50017463	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr12:50016067-50017120	GM12878	blood:	n/a	n/a
31	CEBPD	chr12:50016897-50017551	HepG2	liver:	n/a	n/a
32	CEBPD	chr12:50017178-50017540	HepG2	liver:	n/a	n/a
33	CHD2	chr12:50016594-50017529	H1-hESC	embryonic stem cell:	n/a	chr12:50017452-50017462 chr12:50017102-50017112
34	CHD2	chr12:50016179-50017521	GM12878	blood:	n/a	chr12:50016579-50016586 chr12:50017452-50017462 chr12:50016545-50016552 chr12:50017102-50017112
35	CHD2	chr12:50016331-50017482	K562	blood:	n/a	chr12:50016579-50016586 chr12:50017452-50017462 chr12:50016545-50016552 chr12:50017102-50017112
36	CHD2	chr12:50016596-50017431	HepG2	liver:	n/a	chr12:50017102-50017112
37	CHD2	chr12:50016541-50017820	Hela-S3	cervix:	n/a	chr12:50016579-50016586 chr12:50017452-50017462 chr12:50016545-50016552 chr12:50017102-50017112
38	CREB1	chr12:50016850-50017540	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr12:50016441-50017999	HepG2	liver:	n/a	n/a
40	CREB1	chr12:50016854-50017537	A549	lung:	n/a	n/a
41	CTBP2	chr12:50016405-50017029	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr12:50017280-50017430	GM06990	blood:	n/a	n/a
43	CTCF	chr12:50017282-50017501	SK-N-SH_RA	brain:	n/a	chr12:50017420-50017438 chr12:50017422-50017435
44	CTCF	chr12:50017320-50017470	GM12872	blood:	n/a	chr12:50017420-50017438 chr12:50017422-50017435
45	CTCF	chr12:50016767-50016967	K562	blood:	n/a	n/a
46	CTCF	chr12:50017336-50017520	Gliobla	brain:	n/a	chr12:50017420-50017438 chr12:50017422-50017435
47	CTCF	chr12:50017360-50017510	HCFaa	heart:	n/a	chr12:50017420-50017438 chr12:50017422-50017435
48	CTCF	chr12:50017620-50017770	SAEC	small airway:	n/a	n/a
49	CTCF	chr12:50017321-50017498	T-47D	breast:	n/a	chr12:50017420-50017438 chr12:50017422-50017435
50	CTCF	chr12:50017340-50017490	AoAF	blood vessel:	n/a	chr12:50017420-50017438 chr12:50017422-50017435

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50016745-50016795	HCT-116	colon:	n/a
2	chr12:50016745-50016795	SKMC	muscle:	n/a
3	chr12:50016745-50016795	HCT-116	colon:	n/a
4	chr12:50016745-50016795	SKMC	muscle:	n/a
5	chr12:50016573-50016623	SK-N-SH	brain:	n/a
6	chr12:50017486-50017536	AG09309	skin:	n/a
7	chr12:50017361-50017411	AG09309	skin:	n/a
8	chr12:50016646-50016696	HRCEpiC	kidney:	n/a
9	chr12:50017412-50017462	Caco-2	colon:	n/a
10	chr12:50017486-50017536	SK-N-MC	brain:	n/a
11	chr12:50016984-50017034	HEK293	kidney:	embryo
12	chr12:50016493-50016543	HL-60	blood:	n/a
13	chr12:50016493-50016543	MCF10A-Er-Src	breast:	n/a
14	chr12:50016787-50016837	GM19239	blood:	n/a
15	chr12:50016493-50016543	AG09319	gingival:	n/a
16	chr12:50017361-50017411	GM19239	blood:	n/a
17	chr12:50017272-50017322	HepG2	liver:	n/a
18	chr12:50016493-50016543	PrEC	prostate:	n/a
19	chr12:50017486-50017536	Hela-S3	cervix:	n/a
20	chr12:50017361-50017411	GM12878	blood:	n/a
21	chr12:50016745-50016795	ECC-1	luminal epithelium:	n/a
22	chr12:50016493-50016543	IMR90	lung:	fetal
23	chr12:50017412-50017462	SKMC	muscle:	n/a
24	chr12:50017272-50017322	NB4	blood:	n/a
25	chr12:50017272-50017322	AG04450	lung:	fetal
26	chr12:50016573-50016623	HCPEpiC	choroid plexus:	n/a
27	chr12:50017412-50017462	HUVEC	blood vessel:	n/a
28	chr12:50016974-50017024	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:50017387-50017437	BJ	skin:	n/a
30	chr12:50016745-50016795	NH-A	brain:	n/a
31	chr12:50017361-50017411	HUVEC	blood vessel:	n/a
32	chr12:50017361-50017411	HEK293	kidney:	embryo
33	chr12:50016974-50017024	HCF	heart:	n/a
34	chr12:50017412-50017462	NHBE	bronchial:	n/a
35	chr12:50016787-50016837	HL-60	blood:	n/a
36	chr12:50016745-50016795	SK-N-SH_RA	brain:	n/a
37	chr12:50017387-50017437	Jurkat	blood:	n/a
38	chr12:50017412-50017462	PFSK-1	brain:	n/a
39	chr12:50017486-50017536	Caco-2	colon:	n/a
40	chr12:50017283-50017333	RPTEC	kidney:	n/a
41	chr12:50017283-50017333	ECC-1	luminal epithelium:	n/a
42	chr12:50016646-50016696	GM06990	blood:	n/a
43	chr12:50017283-50017333	GM06990	blood:	n/a
44	chr12:50017361-50017411	LNCaP	prostate:	n/a
45	chr12:50017361-50017411	GM12891	blood:	n/a
46	chr12:50016745-50016795	NHBE	bronchial:	n/a
47	chr12:50016984-50017034	SK-N-MC	brain:	n/a
48	chr12:50017486-50017536	HRPEpiC	eye:	n/a
49	chr12:50017387-50017437	SAEC	small airway:	n/a
50	chr12:50017412-50017462	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50017147..50018674-chr12:50025201..50027539,2	MCF-7	breast:
2	chr12:50011169..50014072-chr12:50015517..50017843,4	K562	blood:
3	chr12:50007015..50008609-chr12:50014936..50017001,2	MCF-7	breast:
4	chr12:49960411..49963114-chr12:50014226..50017190,3	K562	blood:
5	chr12:50015484..50017956-chr12:50133972..50136718,3	MCF-7	breast:
6	chr12:50017454..50018986-chr12:50027921..50029975,2	K562	blood:
7	chr12:49991394..49993923-chr12:50016054..50019750,3	MCF-7	breast:
8	chr12:50017567..50019258-chr12:50123416..50125896,2	MCF-7	breast:
9	chr12:49961495..49963376-chr12:50017073..50019331,3	MCF-7	breast:
10	chr12:50016328..50018987-chr12:50322032..50323935,2	MCF-7	breast:
11	chr12:50015395..50017224-chr12:50018567..50021188,2	K562	blood:
12	chr12:49976050..49978661-chr12:50015939..50018173,2	MCF-7	breast:
13	chr12:50016251..50018773-chr12:50221048..50223022,2	MCF-7	breast:
14	chr12:50015693..50017566-chr12:50134887..50137031,3	K562	blood:
15	chr12:49960207..49964959-chr12:50014167..50018580,9	MCF-7	breast:
16	chr12:49993836..49997498-chr12:50014878..50017386,3	K562	blood:
17	chr12:50015896..50018986-chr12:50026399..50031122,6	K562	blood:
18	chr12:50015579..50017375-chr12:50043895..50046684,2	MCF-7	breast:
19	chr12:49759045..49761163-chr12:50015602..50018404,2	MCF-7	breast:
20	chr12:50015683..50018623-chr12:50134319..50137008,3	K562	blood:
21	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
22	chr12:50009212..50015291-chr12:50015627..50018500,8	MCF-7	breast:
23	chr12:50015348..50017930-chr12:50100590..50103903,3	K562	blood:
24	chr12:49759192..49762198-chr12:50016828..50018696,3	MCF-7	breast:
25	chr12:50015453..50020013-chr12:50133989..50136234,5	MCF-7	breast:
26	chr12:50014216..50017582-chr12:50033050..50038779,6	MCF-7	breast:
27	chr12:50016997..50017719-chr17:56736195..56736851,2	HCT-116	colon:
28	chr12:50015541..50018481-chr12:50099736..50102606,3	MCF-7	breast:
29	chr12:49757911..49761864-chr12:50015854..50019350,3	K562	blood:
30	chr12:50015023..50017139-chr12:50367561..50369518,2	K562	blood:
31	chr12:50015886..50019957-chr12:50021996..50025809,6	K562	blood:
32	chr12:49908209..49910721-chr12:50017453..50019350,2	K562	blood:

Variant related genes	Relation type
PRPF40B	TF binding region
PRPF40B	CpG island
ENSG00000258057	chromatin interactions
ENSG00000187778	chromatin interactions
ENSG00000135436	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000161791	chromatin interactions
ENSG00000167566	chromatin interactions
ENSG00000257771	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000110844	chromatin interactions
ENSG00000258104	chromatin interactions
ENSG00000257570	chromatin interactions
ENSG00000123352	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141514651	chr12:50016675-50016676	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs190211879	chr12:50016689-50016690	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs534149593	chr12:50016710-50016711	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs180899237	chr12:50016716-50016717	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs577231141	chr12:50016781-50016782	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs546012933	chr12:50016816-50016817	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs147253220	chr12:50016836-50016837	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs537494323	chr12:50016837-50016838	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs76184248	chr12:50016852-50016853	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs115061962	chr12:50016895-50016896	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs78563203	chr12:50016989-50016990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs185940627	chr12:50016991-50016992	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs562000134	chr12:50017013-50017014	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs539432621	chr12:50017033-50017034	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs547336962	chr12:50017038-50017039	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs557857236	chr12:50017051-50017052	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs573010644	chr12:50017071-50017072	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs533024999	chr12:50017088-50017089	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs549657609	chr12:50017092-50017093	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs541636282	chr12:50017100-50017101	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs147118019	chr12:50017114-50017115	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs138529836	chr12:50017142-50017143	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs549201226	chr12:50017153-50017154	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs565951722	chr12:50017232-50017233	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs534626060	chr12:50017477-50017478	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs554117314	chr12:50017686-50017687	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs35226096	chr12:50017693-50017694	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs547722951	chr12:50017697-50017698	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs374745786	chr12:50017711-50017712	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs570784163	chr12:50017716-50017717	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs539916634	chr12:50017781-50017782	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs556201236	chr12:50017820-50017821	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs377317563	chr12:50017854-50017855	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs191583925	chr12:50017876-50017877	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs35452315	chr12:50017916-50017917	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs574982759	chr12:50017932-50017933	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs541994102	chr12:50017937-50017938	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs58278271	chr12:50017975-50017976	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572684224	chr12:50017978-50017979	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs375730368	chr12:50017989-50017990	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs541389101	chr12:50017994-50017995	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs564107563	chr12:50018035-50018036	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs149198789	chr12:50018042-50018043	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs543450861	chr12:50018164-50018165	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs143338919	chr12:50018236-50018237	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs373955917	chr12:50018272-50018273	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs549162495	chr12:50018279-50018280	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs565767619	chr12:50018346-50018347	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs528363860	chr12:50018373-50018374	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs368106672	chr12:50018489-50018490	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50015000-50017000	Flanking Active TSS	Dnd41	blood
2	chr12:50015400-50016600	Flanking Active TSS	Brain Anterior Caudate	brain
3	chr12:50015400-50016800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:50015400-50016800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:50015400-50017000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr12:50015400-50017000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:50015400-50017000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:50015400-50017000	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr12:50015400-50017000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr12:50015400-50017200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:50015600-50016600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr12:50015600-50016600	Flanking Active TSS	Fetal Brain Female	brain
13	chr12:50015600-50016800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:50015600-50016800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:50015600-50016800	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:50015600-50017000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:50015600-50017000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:50015600-50017000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:50015600-50017000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:50015600-50017000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:50015600-50017000	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr12:50015600-50017000	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr12:50015600-50017000	Flanking Active TSS	HMEC	breast
24	chr12:50015600-50017000	Flanking Active TSS	NHEK	skin
25	chr12:50015600-50017000	Flanking Active TSS	NHLF	lung
26	chr12:50015600-50017200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr12:50015600-50017200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:50015600-50018000	Active TSS	Aorta	Aorta
29	chr12:50015600-50018000	Active TSS	Fetal Kidney	kidney
30	chr12:50015600-50018000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:50015600-50018200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:50015600-50018200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr12:50015800-50016600	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:50015800-50016800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:50015800-50016800	Flanking Active TSS	Colonic Mucosa	Colon
36	chr12:50015800-50017000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:50015800-50017000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:50015800-50017000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr12:50015800-50017400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr12:50015800-50017800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:50015800-50017800	Active TSS	Ovary	ovary
42	chr12:50015800-50018000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr12:50015800-50018000	Active TSS	Brain Angular Gyrus	brain
44	chr12:50015800-50018000	Active TSS	Psoas Muscle	Psoas
45	chr12:50016000-50016600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr12:50016000-50016800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:50016000-50016800	Flanking Active TSS	Fetal Lung	lung
48	chr12:50016000-50016800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr12:50016000-50016800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:50016000-50016800	Flanking Active TSS	HSMM	muscle

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