Variant report

Variant	esv3388753
Chromosome Location	chr12:122458594-122461542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:524)
CpG islands
(count:610)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr12:122461297-122461976	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	chr12:122459856-122459906	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr12:122461258-122461398	K562	blood:	n/a	n/a
18	CREB1	chr12:122459718-122460104	GM12878	blood:	n/a	n/a
19	CREB1	chr12:122459551-122460142	A549	lung:	n/a	n/a
20	CTCF	chr12:122461293-122461356	GM12891	blood:	n/a	n/a
21	CTCF	chr12:122461180-122461330	AG04449	skin:	n/a	n/a
22	CTCF	chr12:122459814-122459882	GM12892	blood:	n/a	n/a
23	CTCF	chr12:122459980-122460130	GM12868	blood:	n/a	n/a
24	CTCF	chr12:122459580-122459730	GM12867	blood:	n/a	n/a
25	CTCF	chr12:122459580-122459730	GM12871	blood:	n/a	n/a
26	CTCF	chr12:122459360-122459510	GM12870	blood:	n/a	n/a
27	CTCF	chr12:122461180-122461330	GM12864	blood:	n/a	n/a
28	CTCF	chr12:122460852-122460910	LNCaP	prostate:	n/a	n/a
29	CTCF	chr12:122461420-122461570	HVMF	connective:	n/a	n/a
30	CTCF	chr12:122461260-122461410	GM12871	blood:	n/a	n/a
31	E2F4	chr12:122460322-122461428	MCF10A-Er-Src	breast:	n/a	chr12:122460861-122460871
32	E2F4	chr12:122459297-122459313	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F6	chr12:122460086-122461539	K562	blood:	n/a	chr12:122460464-122460475 chr12:122460861-122460871
34	E2F6	chr12:122459494-122460033	K562	blood:	n/a	chr12:122459771-122459781 chr12:122459588-122459597 chr12:122459782-122459791
35	E2F6	chr12:122460179-122460730	H1-hESC	embryonic stem cell:	n/a	chr12:122460464-122460475
36	E2F6	chr12:122460283-122461854	A549	lung:	n/a	chr12:122460464-122460475 chr12:122460861-122460871
37	E2F6	chr12:122459257-122459395	K562	blood:	n/a	n/a
38	E2F6	chr12:122461324-122461582	K562	blood:	n/a	n/a
39	E2F6	chr12:122460297-122460697	A549	lung:	n/a	chr12:122460464-122460475
40	E2F6	chr12:122459709-122460131	A549	lung:	n/a	chr12:122459771-122459781 chr12:122459782-122459791
41	E2F6	chr12:122460265-122460709	H1-hESC	embryonic stem cell:	n/a	chr12:122460464-122460475
42	E2F6	chr12:122460324-122460652	K562	blood:	n/a	chr12:122460464-122460475
43	E2F6	chr12:122460731-122461121	A549	lung:	n/a	chr12:122460861-122460871
44	E2F6	chr12:122459590-122462199	K562	blood:	n/a	chr12:122460464-122460475 chr12:122459771-122459781 chr12:122460861-122460871 chr12:122459782-122459791
45	E2F6	chr12:122460787-122461675	H1-hESC	embryonic stem cell:	n/a	chr12:122460861-122460871
46	E2F6	chr12:122459693-122459841	K562	blood:	n/a	chr12:122459771-122459781 chr12:122459782-122459791
47	EBF1	chr12:122461286-122461514	GM12878	blood:	n/a	n/a
48	EBF1	chr12:122461449-122461676	GM12878	blood:	n/a	n/a
49	ELF1	chr12:122460581-122462215	GM12878	blood:	n/a	chr12:122461414-122461425
50	ELF1	chr12:122459320-122460069	GM12878	blood:	n/a	chr12:122459443-122459452 chr12:122459607-122459619 chr12:122459439-122459451

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122460473-122460523	NT2-D1	testis:	n/a
2	chr12:122461295-122461345	HEK293	kidney:	embryo
3	chr12:122459509-122459559	ProgFib	skin:	n/a
4	chr12:122459509-122459559	PFSK-1	brain:	n/a
5	chr12:122459934-122459984	RPTEC	kidney:	n/a
6	chr12:122460473-122460523	SAEC	small airway:	n/a
7	chr12:122459695-122459745	H1-hESC	embryonic stem cell:	embryo
8	chr12:122459509-122459559	NHDF-neo	bronchial:	n/a
9	chr12:122459509-122459559	ECC-1	luminal epithelium:	n/a
10	chr12:122461358-122461408	RPTEC	kidney:	n/a
11	chr12:122459695-122459745	IMR90	lung:	fetal
12	chr12:122459934-122459984	AG10803	skin:	n/a
13	chr12:122459509-122459559	HUVEC	blood vessel:	n/a
14	chr12:122459695-122459745	ovcar-3	ovarian:	n/a
15	chr12:122460105-122460155	A549	lung:	n/a
16	chr12:122459695-122459745	PFSK-1	brain:	n/a
17	chr12:122461295-122461345	NT2-D1	testis:	n/a
18	chr12:122460105-122460155	NB4	blood:	n/a
19	chr12:122459695-122459745	SKMC	muscle:	n/a
20	chr12:122458893-122458943	ovcar-3	ovarian:	n/a
21	chr12:122459695-122459745	HL-60	blood:	n/a
22	chr12:122461295-122461345	SKMC	muscle:	n/a
23	chr12:122461358-122461408	LNCaP	prostate:	n/a
24	chr12:122460105-122460155	AG09309	skin:	n/a
25	chr12:122460105-122460155	PANC-1	pancreas:	n/a
26	chr12:122458893-122458943	ProgFib	skin:	n/a
27	chr12:122461358-122461408	HCPEpiC	choroid plexus:	n/a
28	chr12:122461295-122461345	Hepatocyte	liver:	n/a
29	chr12:122460473-122460523	A549	lung:	n/a
30	chr12:122459966-122460016	HAEpiC	amniotic membrane:	n/a
31	chr12:122461358-122461408	HUVEC	blood vessel:	n/a
32	chr12:122459934-122459984	HUVEC	blood vessel:	n/a
33	chr12:122460473-122460523	GM12878	blood:	n/a
34	chr12:122458940-122458990	HRE	kidney:	n/a
35	chr12:122460105-122460155	AG10803	skin:	n/a
36	chr12:122458893-122458943	HCPEpiC	choroid plexus:	n/a
37	chr12:122459966-122460016	AG04450	lung:	fetal
38	chr12:122459509-122459559	K562	blood:	n/a
39	chr12:122461358-122461408	NH-A	brain:	n/a
40	chr12:122459509-122459559	NHBE	bronchial:	n/a
41	chr12:122458893-122458943	HIPEpiC	eye:	n/a
42	chr12:122459695-122459745	SK-N-SH_RA	brain:	n/a
43	chr12:122459509-122459559	HEEpiC	esophagus:	n/a
44	chr12:122461295-122461345	SK-N-MC	brain:	n/a
45	chr12:122459509-122459559	HMEC	breast:	n/a
46	chr12:122461358-122461408	HEK293	kidney:	embryo
47	chr12:122459509-122459559	HCT-116	colon:	n/a
48	chr12:122461358-122461408	GM06990	blood:	n/a
49	chr12:122459509-122459559	SK-N-MC	brain:	n/a
50	chr12:122460105-122460155	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
2	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
3	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
4	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
5	chr12:122393562..122396353-chr12:122460972..122463920,2	K562	blood:
6	chr12:122459975..122462130-chr12:122612185..122613777,2	MCF-7	breast:
7	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
8	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
9	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
10	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
11	chr12:122235921..122238772-chr12:122461316..122462876,2	K562	blood:
12	chr12:122461383..122462889-chr12:122756023..122758589,2	K562	blood:
13	chr12:122355313..122357386-chr12:122460176..122462387,2	K562	blood:
14	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
15	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
16	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
17	chr12:122325420..122328140-chr12:122460188..122462460,4	MCF-7	breast:
18	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
19	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
20	chr12:122460432..122462517-chr12:122503179..122505981,2	MCF-7	breast:
21	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
22	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
23	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
24	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
25	chr12:122460064..122462817-chr12:122499395..122500991,2	MCF-7	breast:
26	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
27	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
28	chr12:122295977..122297667-chr12:122459919..122461653,2	K562	blood:
29	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
30	chr12:122460578..122461397-chr21:47878363..47878963,2	Hela-S3	cervix:
31	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
32	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
33	chr12:122235276..122236948-chr12:122459921..122462305,2	MCF-7	breast:
34	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:
35	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
36	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
37	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
38	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
39	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:
40	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
41	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
42	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
43	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:

No data

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

Extended variants
information (count: 180 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs546525657	chr12:122458628-122458629	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs564632453	chr12:122458632-122458633	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs531960462	chr12:122458636-122458637	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs1916333	chr12:122458637-122458638	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367547787	chr12:122458662-122458663	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs117596001	chr12:122458683-122458684	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs144323660	chr12:122458691-122458692	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs547867713	chr12:122458714-122458715	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs566508849	chr12:122458723-122458724	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs533789657	chr12:122458729-122458730	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs148751459	chr12:122458754-122458755	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs570276136	chr12:122458769-122458770	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs113149750	chr12:122458798-122458799	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs11043290	chr12:122458818-122458819	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560681350	chr12:122458847-122458848	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs555966767	chr12:122458870-122458871	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs182306658	chr12:122458875-122458876	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs542347206	chr12:122458890-122458891	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs186962316	chr12:122458896-122458897	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs572416096	chr12:122458912-122458913	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs546488656	chr12:122458918-122458919	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs564793581	chr12:122458928-122458929	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs532073995	chr12:122458946-122458947	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs142330612	chr12:122458983-122458984	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs562348354	chr12:122458986-122458987	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs192668329	chr12:122458992-122458993	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs548271061	chr12:122458999-122459000	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs151259185	chr12:122459009-122459010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs527304462	chr12:122459020-122459021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs185015243	chr12:122459041-122459042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs552023208	chr12:122459042-122459043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs570389761	chr12:122459049-122459050	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs537780119	chr12:122459064-122459065	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs139516398	chr12:122459072-122459073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs189909267	chr12:122459081-122459082	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs193178069	chr12:122459083-122459084	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs554259957	chr12:122459114-122459115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs572446078	chr12:122459117-122459118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs546198811	chr12:122459122-122459123	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs558219315	chr12:122459131-122459132	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs576800466	chr12:122459150-122459151	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs544175880	chr12:122459157-122459158	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs554902432	chr12:122459159-122459160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs184586185	chr12:122459161-122459162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs541525964	chr12:122459166-122459167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs576122756	chr12:122459176-122459177	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs560214148	chr12:122459183-122459184	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs189370128	chr12:122459191-122459192	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs551737565	chr12:122459208-122459209	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs563776606	chr12:122459209-122459210	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 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:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
4	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
5	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122454800-122459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122455600-122458800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:122456400-122458800	Weak transcription	Pancreas	Pancrea
9	chr12:122456600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:122456800-122458800	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:122457000-122458600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:122457800-122458800	Enhancers	Primary B cells from cord blood	blood
13	chr12:122457800-122458800	Weak transcription	K562	blood
14	chr12:122458000-122458600	Enhancers	Fetal Thymus	thymus
15	chr12:122458000-122458600	Enhancers	Thymus	Thymus
16	chr12:122458400-122458600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122458400-122458600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:122458400-122458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122458400-122458600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:122458400-122458600	Enhancers	NHEK	skin
21	chr12:122458400-122458800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr12:122458400-122459000	Enhancers	Fetal Brain Male	brain
23	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood
24	chr12:122458600-122458800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:122458600-122458800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr12:122458600-122458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:122458600-122458800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:122458600-122458800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:122458600-122458800	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:122458600-122458800	Active TSS	Brain Germinal Matrix	brain
31	chr12:122458600-122458800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:122458600-122458800	Enhancers	Fetal Brain Female	brain
33	chr12:122458600-122458800	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr12:122458600-122458800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:122458600-122458800	Active TSS	Thymus	Thymus
36	chr12:122458600-122458800	Active TSS	HSMMtube	muscle
37	chr12:122458600-122458800	Enhancers	NHLF	lung
38	chr12:122458600-122459000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122458600-122459000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
40	chr12:122458600-122459000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr12:122458600-122459000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:122458600-122459000	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:122458600-122459000	Active TSS	Brain Angular Gyrus	brain
44	chr12:122458600-122459000	Enhancers	Brain Hippocampus Middle	brain
45	chr12:122458600-122459000	Enhancers	Fetal Heart	heart
46	chr12:122458600-122459000	Enhancers	Fetal Intestine Large	intestine
47	chr12:122458600-122459000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr12:122458600-122459000	Bivalent Enhancer	Fetal Stomach	stomach
49	chr12:122458600-122459000	Enhancers	Left Ventricle	heart
50	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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