Variant report

Variant	esv3425442
Chromosome Location	chr12:122459394-122461942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:564)
CpG islands
(count:549)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122461436-122461518	K562	blood:	n/a	n/a
2	BACH1	chr12:122461369-122461569	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:122461280-122461740	A549	lung:	n/a	chr12:122461705-122461714
4	BCLAF1	chr12:122459585-122460033	GM12878	blood:	n/a	chr12:122459955-122459968 chr12:122459805-122459818
5	BHLHE40	chr12:122461181-122461693	HepG2	liver:	n/a	n/a
6	BHLHE40	chr12:122461287-122461910	K562	blood:	n/a	n/a
7	BRCA1	chr12:122461466-122461599	HepG2	liver:	n/a	n/a
8	CBX3	chr12:122461222-122461578	K562	blood:	n/a	n/a
9	CCNT2	chr12:122461344-122462165	K562	blood:	n/a	n/a
10	CCNT2	chr12:122459411-122461031	K562	blood:	n/a	n/a
11	CEBPB	chr12:122461305-122461473	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:122461669-122461959	K562	blood:	n/a	n/a
13	CEBPB	chr12:122461297-122461976	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:122461590-122461913	HepG2	liver:	n/a	n/a
15	CEBPD	chr12:122461191-122461572	HepG2	liver:	n/a	n/a
16	CHD1	chr12:122459877-122459976	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr12:122460840-122461016	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr12:122461771-122461917	K562	blood:	n/a	n/a
19	CHD2	chr12:122461258-122461398	K562	blood:	n/a	n/a
20	CHD2	chr12:122459856-122459906	Hela-S3	cervix:	n/a	n/a
21	CREB1	chr12:122459551-122460142	A549	lung:	n/a	n/a
22	CREB1	chr12:122459718-122460104	GM12878	blood:	n/a	n/a
23	CTCF	chr12:122461600-122461750	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr12:122461560-122461710	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr12:122461600-122461750	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr12:122461260-122461410	GM12871	blood:	n/a	n/a
27	CTCF	chr12:122461700-122461850	HEK293	kidney:	n/a	n/a
28	CTCF	chr12:122459814-122459882	GM12892	blood:	n/a	n/a
29	CTCF	chr12:122461680-122461830	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr12:122459360-122459510	GM12870	blood:	n/a	n/a
31	CTCF	chr12:122461620-122461770	AG09319	gingival:	n/a	n/a
32	CTCF	chr12:122461560-122461710	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:122461640-122461790	AG09319	gingival:	n/a	n/a
34	CTCF	chr12:122461600-122461750	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr12:122461640-122461790	BJ	skin:	n/a	n/a
36	CTCF	chr12:122460852-122460910	LNCaP	prostate:	n/a	n/a
37	CTCF	chr12:122461420-122461570	HVMF	connective:	n/a	n/a
38	CTCF	chr12:122461180-122461330	GM12864	blood:	n/a	n/a
39	CTCF	chr12:122461293-122461356	GM12891	blood:	n/a	n/a
40	CTCF	chr12:122459580-122459730	GM12867	blood:	n/a	n/a
41	CTCF	chr12:122461580-122461730	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr12:122461600-122461750	BJ	skin:	n/a	n/a
43	CTCF	chr12:122461180-122461330	AG04449	skin:	n/a	n/a
44	CTCF	chr12:122459980-122460130	GM12868	blood:	n/a	n/a
45	CTCF	chr12:122461620-122461770	AG04449	skin:	n/a	n/a
46	CTCF	chr12:122461660-122461810	GM12870	blood:	n/a	n/a
47	CTCF	chr12:122461580-122461730	HRE	kidney:	n/a	n/a
48	CTCF	chr12:122459580-122459730	GM12871	blood:	n/a	n/a
49	E2F4	chr12:122460322-122461428	MCF10A-Er-Src	breast:	n/a	chr12:122460861-122460871
50	E2F6	chr12:122461324-122461582	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122459934-122459984	SKMC	muscle:	n/a
2	chr12:122461295-122461345	HRCEpiC	kidney:	n/a
3	chr12:122459934-122459984	Hela-S3	cervix:	n/a
4	chr12:122461621-122461671	HUVEC	blood vessel:	n/a
5	chr12:122460473-122460523	AG09309	skin:	n/a
6	chr12:122459695-122459745	HRE	kidney:	n/a
7	chr12:122460105-122460155	LNCaP	prostate:	n/a
8	chr12:122459934-122459984	HEEpiC	esophagus:	n/a
9	chr12:122459509-122459559	AoSMC	blood vessel:	n/a
10	chr12:122461621-122461671	T-47D	breast:	n/a
11	chr12:122461621-122461671	ProgFib	skin:	n/a
12	chr12:122460105-122460155	AoSMC	blood vessel:	n/a
13	chr12:122459966-122460016	LNCaP	prostate:	n/a
14	chr12:122459966-122460016	GM06990	blood:	n/a
15	chr12:122461621-122461671	ECC-1	luminal epithelium:	n/a
16	chr12:122461295-122461345	AG04450	lung:	fetal
17	chr12:122459966-122460016	SK-N-SH	brain:	n/a
18	chr12:122461358-122461408	A549	lung:	n/a
19	chr12:122460105-122460155	GM06990	blood:	n/a
20	chr12:122459509-122459559	T-47D	breast:	n/a
21	chr12:122461295-122461345	GM19239	blood:	n/a
22	chr12:122459934-122459984	PrEC	prostate:	n/a
23	chr12:122461358-122461408	GM06990	blood:	n/a
24	chr12:122459695-122459745	HCPEpiC	choroid plexus:	n/a
25	chr12:122459966-122460016	Hepatocyte	liver:	n/a
26	chr12:122461295-122461345	HUVEC	blood vessel:	n/a
27	chr12:122459934-122459984	AG10803	skin:	n/a
28	chr12:122459509-122459559	HIPEpiC	eye:	n/a
29	chr12:122461295-122461345	AoSMC	blood vessel:	n/a
30	chr12:122461621-122461671	NHBE	bronchial:	n/a
31	chr12:122461358-122461408	GM12892	blood:	n/a
32	chr12:122461358-122461408	SK-N-SH_RA	brain:	n/a
33	chr12:122459966-122460016	BE2_C	brain:	n/a
34	chr12:122461621-122461671	HCM	heart:	n/a
35	chr12:122459695-122459745	SKMC	muscle:	n/a
36	chr12:122461358-122461408	HEK293	kidney:	embryo
37	chr12:122461358-122461408	HL-60	blood:	n/a
38	chr12:122459966-122460016	HIPEpiC	eye:	n/a
39	chr12:122460105-122460155	NH-A	brain:	n/a
40	chr12:122461295-122461345	CMK	blood:	n/a
41	chr12:122461295-122461345	MCF-7	breast:	n/a
42	chr12:122461295-122461345	HMEC	breast:	n/a
43	chr12:122459966-122460016	AG04450	lung:	fetal
44	chr12:122461295-122461345	AG09309	skin:	n/a
45	chr12:122460473-122460523	Caco-2	colon:	n/a
46	chr12:122460473-122460523	U87	brain:	n/a
47	chr12:122461295-122461345	ECC-1	luminal epithelium:	n/a
48	chr12:122460473-122460523	HMEC	breast:	n/a
49	chr12:122461358-122461408	GM12878	blood:	n/a
50	chr12:122459934-122459984	ProgFib	skin:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
2	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
3	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
4	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
5	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
6	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
7	chr12:122355313..122357386-chr12:122460176..122462387,2	K562	blood:
8	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
9	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
10	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
11	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
12	chr12:122235276..122236948-chr12:122459921..122462305,2	MCF-7	breast:
13	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
14	chr12:122393562..122396353-chr12:122460972..122463920,2	K562	blood:
15	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
16	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
17	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
18	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
19	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
20	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
21	chr12:122295977..122297667-chr12:122459919..122461653,2	K562	blood:
22	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
23	chr12:122460578..122461397-chr21:47878363..47878963,2	Hela-S3	cervix:
24	chr12:122325408..122328152-chr12:122461584..122463358,2	K562	blood:
25	chr12:122459975..122462130-chr12:122612185..122613777,2	MCF-7	breast:
26	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
27	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
28	chr12:122460432..122462517-chr12:122503179..122505981,2	MCF-7	breast:
29	chr12:122235921..122238772-chr12:122461316..122462876,2	K562	blood:
30	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
31	chr12:122325420..122328140-chr12:122460188..122462460,4	MCF-7	breast:
32	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
33	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
34	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:
35	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
36	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
37	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:
38	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
39	chr12:122460064..122462817-chr12:122499395..122500991,2	MCF-7	breast:
40	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
41	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
42	chr12:122461383..122462889-chr12:122756023..122758589,2	K562	blood:
43	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255856	TF binding region
BCL7A	TF binding region
ENSG00000255856	CpG island
BCL7A	CpG island
ENSG00000256546	chromatin interactions
ENSG00000256861	chromatin interactions
ENSG00000158104	chromatin interactions
ENSG00000158113	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000176383	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000139719	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000272849	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000110987	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531225220	chr12:122459402-122459403	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs549782580	chr12:122459423-122459424	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs561997133	chr12:122459426-122459427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs529209092	chr12:122459430-122459431	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs180682804	chr12:122459438-122459439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs370773806	chr12:122459441-122459442	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs547562341	chr12:122459461-122459462	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs565930797	chr12:122459468-122459469	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs539895558	chr12:122459474-122459475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs551915100	chr12:122459476-122459477	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs570032179	chr12:122459484-122459485	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs537474036	chr12:122459528-122459529	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs555505041	chr12:122459560-122459561	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs574257709	chr12:122459567-122459568	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs535045202	chr12:122459599-122459600	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs12817294	chr12:122459602-122459603	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs12817305	chr12:122459623-122459624	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs553145595	chr12:122459681-122459682	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs577815893	chr12:122459694-122459695	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs545460876	chr12:122459761-122459762	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs557455365	chr12:122459819-122459820	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs72047889	chr12:122459823-122459824	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs113822209	chr12:122459824-122459825	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs201268653	chr12:122459830-122459831	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs576752089	chr12:122459832-122459833	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs372120175	chr12:122459833-122459834	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs182018224	chr12:122459834-122459835	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs542528031	chr12:122459835-122459836	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs7298159	chr12:122459836-122459837	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs576086277	chr12:122459861-122459862	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs1678962	chr12:122459863-122459864	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs376744458	chr12:122459864-122459865	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs561570652	chr12:122459892-122459893	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs368734588	chr12:122459962-122459963	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs540970715	chr12:122459971-122459972	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs559549886	chr12:122459991-122459992	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs533177288	chr12:122460027-122460028	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs551878227	chr12:122460075-122460076	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs201779568	chr12:122460078-122460079	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs200458522	chr12:122460091-122460092	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs570141271	chr12:122460102-122460103	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs530940878	chr12:122460153-122460154	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs549347779	chr12:122460247-122460248	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs113071135	chr12:122460344-122460345	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs567598319	chr12:122460465-122460466	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs535272964	chr12:122460601-122460602	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs111532199	chr12:122460622-122460623	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs553258231	chr12:122460672-122460673	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs571482036	chr12:122460676-122460677	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs538828703	chr12:122460688-122460689	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood
2	chr12:122458600-122459400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:122458600-122459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:122458600-122459400	Flanking Active TSS	Fetal Thymus	thymus
5	chr12:122458600-122459400	Flanking Active TSS	NHEK	skin
6	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122458600-122459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr12:122458800-122459400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:122458800-122459400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr12:122458800-122459400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:122458800-122459400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr12:122458800-122459400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:122458800-122459400	Enhancers	Esophagus	oesophagus
17	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr12:122458800-122459400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
21	chr12:122458800-122459400	Flanking Active TSS	HSMMtube	muscle
22	chr12:122458800-122459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:122458800-122459600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:122458800-122459600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr12:122458800-122459800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:122458800-122461200	Active TSS	A549	lung
28	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:122459000-122459400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr12:122459000-122459400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:122459000-122459400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:122459000-122459400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr12:122459000-122459400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:122459000-122459400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr12:122459000-122459400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:122459000-122459400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr12:122459000-122459400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:122459000-122459400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr12:122459000-122459400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:122459000-122459400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr12:122459000-122459400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:122459000-122459400	Flanking Active TSS	Fetal Heart	heart
47	chr12:122459000-122459400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr12:122459000-122459400	Flanking Active TSS	Fetal Lung	lung
49	chr12:122459000-122459400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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