Variant report

Variant	esv3406676
Chromosome Location	chr12:122459519-122461517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:500)
CpG islands
(count:488)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr12:122459411-122461031	K562	blood:	n/a	n/a
10	CCNT2	chr12:122461344-122462165	K562	blood:	n/a	n/a
11	CEBPB	chr12:122461297-122461976	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:122461305-122461473	HepG2	liver:	n/a	n/a
13	CEBPD	chr12:122461191-122461572	HepG2	liver:	n/a	n/a
14	CHD1	chr12:122460840-122461016	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr12:122459877-122459976	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr12:122461258-122461398	K562	blood:	n/a	n/a
17	CHD2	chr12:122459856-122459906	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr12:122459551-122460142	A549	lung:	n/a	n/a
19	CREB1	chr12:122459718-122460104	GM12878	blood:	n/a	n/a
20	CTCF	chr12:122459580-122459730	GM12871	blood:	n/a	n/a
21	CTCF	chr12:122461180-122461330	GM12864	blood:	n/a	n/a
22	CTCF	chr12:122461420-122461570	HVMF	connective:	n/a	n/a
23	CTCF	chr12:122461180-122461330	AG04449	skin:	n/a	n/a
24	CTCF	chr12:122459980-122460130	GM12868	blood:	n/a	n/a
25	CTCF	chr12:122460852-122460910	LNCaP	prostate:	n/a	n/a
26	CTCF	chr12:122461293-122461356	GM12891	blood:	n/a	n/a
27	CTCF	chr12:122461260-122461410	GM12871	blood:	n/a	n/a
28	CTCF	chr12:122459814-122459882	GM12892	blood:	n/a	n/a
29	CTCF	chr12:122459580-122459730	GM12867	blood:	n/a	n/a
30	E2F4	chr12:122460322-122461428	MCF10A-Er-Src	breast:	n/a	chr12:122460861-122460871
31	E2F6	chr12:122459590-122462199	K562	blood:	n/a	chr12:122460464-122460475 chr12:122459771-122459781 chr12:122460861-122460871 chr12:122459782-122459791
32	E2F6	chr12:122459709-122460131	A549	lung:	n/a	chr12:122459771-122459781 chr12:122459782-122459791
33	E2F6	chr12:122459494-122460033	K562	blood:	n/a	chr12:122459771-122459781 chr12:122459588-122459597 chr12:122459782-122459791
34	E2F6	chr12:122460086-122461539	K562	blood:	n/a	chr12:122460464-122460475 chr12:122460861-122460871
35	E2F6	chr12:122460787-122461675	H1-hESC	embryonic stem cell:	n/a	chr12:122460861-122460871
36	E2F6	chr12:122460297-122460697	A549	lung:	n/a	chr12:122460464-122460475
37	E2F6	chr12:122461324-122461582	K562	blood:	n/a	n/a
38	E2F6	chr12:122460731-122461121	A549	lung:	n/a	chr12:122460861-122460871
39	E2F6	chr12:122460324-122460652	K562	blood:	n/a	chr12:122460464-122460475
40	E2F6	chr12:122460179-122460730	H1-hESC	embryonic stem cell:	n/a	chr12:122460464-122460475
41	E2F6	chr12:122460265-122460709	H1-hESC	embryonic stem cell:	n/a	chr12:122460464-122460475
42	E2F6	chr12:122460283-122461854	A549	lung:	n/a	chr12:122460464-122460475 chr12:122460861-122460871
43	E2F6	chr12:122459693-122459841	K562	blood:	n/a	chr12:122459771-122459781 chr12:122459782-122459791
44	EBF1	chr12:122461286-122461514	GM12878	blood:	n/a	n/a
45	EBF1	chr12:122461449-122461676	GM12878	blood:	n/a	n/a
46	ELF1	chr12:122459320-122460069	GM12878	blood:	n/a	chr12:122459443-122459452 chr12:122459607-122459619 chr12:122459439-122459451
47	ELF1	chr12:122459603-122460124	GM12878	blood:	n/a	chr12:122459607-122459619
48	ELF1	chr12:122460581-122462215	GM12878	blood:	n/a	chr12:122461414-122461425
49	EP300	chr12:122459727-122459938	SK-N-SH_RA	brain:	n/a	chr12:122459768-122459784 chr12:122459759-122459775 chr12:122459807-122459816
50	EP300	chr12:122461249-122461445	HepG2	liver:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122460105-122460155	GM12891	blood:	n/a
2	chr12:122459966-122460016	BE2_C	brain:	n/a
3	chr12:122459509-122459559	ovcar-3	ovarian:	n/a
4	chr12:122461295-122461345	SK-N-MC	brain:	n/a
5	chr12:122459966-122460016	HEK293	kidney:	embryo
6	chr12:122459695-122459745	T-47D	breast:	n/a
7	chr12:122461358-122461408	AG04449	skin:	fetal
8	chr12:122460473-122460523	MCF-7	breast:	n/a
9	chr12:122460105-122460155	IMR90	lung:	fetal
10	chr12:122459934-122459984	HAEpiC	amniotic membrane:	n/a
11	chr12:122459695-122459745	HNPCEpiC	eye:	n/a
12	chr12:122459934-122459984	SK-N-SH	brain:	n/a
13	chr12:122461358-122461408	AG09309	skin:	n/a
14	chr12:122460105-122460155	HRPEpiC	eye:	n/a
15	chr12:122459695-122459745	HRCEpiC	kidney:	n/a
16	chr12:122459509-122459559	AG09309	skin:	n/a
17	chr12:122460105-122460155	HEK293	kidney:	embryo
18	chr12:122460105-122460155	HL-60	blood:	n/a
19	chr12:122459695-122459745	SK-N-SH	brain:	n/a
20	chr12:122459509-122459559	AG04449	skin:	fetal
21	chr12:122459934-122459984	AG04449	skin:	fetal
22	chr12:122460105-122460155	GM12878	blood:	n/a
23	chr12:122461358-122461408	GM12892	blood:	n/a
24	chr12:122460105-122460155	T-47D	breast:	n/a
25	chr12:122459509-122459559	PrEC	prostate:	n/a
26	chr12:122459934-122459984	Caco-2	colon:	n/a
27	chr12:122461295-122461345	HAEpiC	amniotic membrane:	n/a
28	chr12:122459695-122459745	SK-N-SH_RA	brain:	n/a
29	chr12:122460473-122460523	HepG2	liver:	n/a
30	chr12:122459934-122459984	PFSK-1	brain:	n/a
31	chr12:122460473-122460523	RPTEC	kidney:	n/a
32	chr12:122459934-122459984	IMR90	lung:	fetal
33	chr12:122461295-122461345	Hepatocyte	liver:	n/a
34	chr12:122459966-122460016	PFSK-1	brain:	n/a
35	chr12:122459695-122459745	HEEpiC	esophagus:	n/a
36	chr12:122460473-122460523	AG09309	skin:	n/a
37	chr12:122460105-122460155	PANC-1	pancreas:	n/a
38	chr12:122459966-122460016	NB4	blood:	n/a
39	chr12:122459509-122459559	CMK	blood:	n/a
40	chr12:122459695-122459745	BJ	skin:	n/a
41	chr12:122460105-122460155	SAEC	small airway:	n/a
42	chr12:122459695-122459745	ECC-1	luminal epithelium:	n/a
43	chr12:122460473-122460523	ECC-1	luminal epithelium:	n/a
44	chr12:122461358-122461408	A549	lung:	n/a
45	chr12:122460105-122460155	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:122461295-122461345	SK-N-SH_RA	brain:	n/a
47	chr12:122461295-122461345	SAEC	small airway:	n/a
48	chr12:122459509-122459559	NHBE	bronchial:	n/a
49	chr12:122459509-122459559	HNPCEpiC	eye:	n/a
50	chr12:122461358-122461408	LNCaP	prostate:	n/a

(count:42 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 97 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	rs557455365	chr12:122459819-122459820	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs72047889	chr12:122459823-122459824	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs113822209	chr12:122459824-122459825	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs201268653	chr12:122459830-122459831	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs576752089	chr12:122459832-122459833	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs372120175	chr12:122459833-122459834	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs182018224	chr12:122459834-122459835	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs542528031	chr12:122459835-122459836	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs7298159	chr12:122459836-122459837	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs576086277	chr12:122459861-122459862	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs1678962	chr12:122459863-122459864	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs376744458	chr12:122459864-122459865	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs561570652	chr12:122459892-122459893	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	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
24	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
25	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
26	rs533177288	chr12:122460027-122460028	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs551878227	chr12:122460075-122460076	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs201779568	chr12:122460078-122460079	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs200458522	chr12:122460091-122460092	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs570141271	chr12:122460102-122460103	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	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
32	rs549347779	chr12:122460247-122460248	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs113071135	chr12:122460344-122460345	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs567598319	chr12:122460465-122460466	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	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
36	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
37	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
38	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
39	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
40	rs557168767	chr12:122460708-122460709	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
41	rs576080403	chr12:122460718-122460719	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
42	rs543200641	chr12:122460734-122460735	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
43	rs555297606	chr12:122460752-122460753	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs573565726	chr12:122460764-122460765	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs12824404	chr12:122460784-122460785	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs541299474	chr12:122460799-122460800	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs559704939	chr12:122460870-122460871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs533293292	chr12:122460887-122460888	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs545206432	chr12:122460893-122460894	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs563376826	chr12:122460908-122460909	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 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:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:122458600-122459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:122458800-122459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122458800-122459600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122458800-122459600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr12:122458800-122459800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:122458800-122461200	Active TSS	A549	lung
11	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:122459000-122459600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:122459000-122459600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:122459000-122459600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:122459000-122459600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:122459000-122459600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:122459000-122459600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:122459000-122459600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr12:122459000-122459600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr12:122459000-122459600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:122459000-122459600	Flanking Active TSS	HMEC	breast
22	chr12:122459000-122459600	Flanking Active TSS	HUVEC	blood vessel
23	chr12:122459000-122459600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr12:122459000-122459600	Flanking Active TSS	NH-A	brain
25	chr12:122459000-122459800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr12:122459000-122460600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:122459000-122461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:122459000-122461000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122459000-122461800	Active TSS	Psoas Muscle	Psoas
30	chr12:122459000-122461800	Active TSS	Thymus	Thymus
31	chr12:122459000-122462000	Active TSS	Fetal Kidney	kidney
32	chr12:122459200-122459600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:122459200-122459600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr12:122459200-122459600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr12:122459200-122459600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:122459200-122459600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr12:122459200-122459600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:122459200-122459600	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr12:122459200-122459600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr12:122459200-122459600	Flanking Active TSS	Right Atrium	heart
41	chr12:122459200-122460000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr12:122459200-122460000	Active TSS	Fetal Brain Male	brain
43	chr12:122459200-122461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122459200-122461000	Active TSS	NHLF	lung
45	chr12:122459200-122461200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:122459200-122461200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:122459200-122461200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:122459200-122461200	Active TSS	Brain Anterior Caudate	brain
49	chr12:122459200-122461600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:122459200-122461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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