Variant report

Variant	esv3338715
Chromosome Location	chr12:122457569-122462467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:620)
CpG islands
(count:671)
Chromatin interactive
region (count:45)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr12:122461287-122461910	K562	blood:	n/a	n/a
6	BHLHE40	chr12:122462117-122462119	K562	blood:	n/a	n/a
7	BHLHE40	chr12:122461181-122461693	HepG2	liver:	n/a	n/a
8	BRCA1	chr12:122461466-122461599	HepG2	liver:	n/a	n/a
9	CBX3	chr12:122461222-122461578	K562	blood:	n/a	n/a
10	CBX3	chr12:122462102-122462458	K562	blood:	n/a	n/a
11	CCNT2	chr12:122461344-122462165	K562	blood:	n/a	n/a
12	CCNT2	chr12:122459411-122461031	K562	blood:	n/a	n/a
13	CEBPB	chr12:122461305-122461473	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:122462209-122462407	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:122461297-122461976	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:122461590-122461913	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:122461669-122461959	K562	blood:	n/a	n/a
18	CEBPD	chr12:122461191-122461572	HepG2	liver:	n/a	n/a
19	CHD1	chr12:122460840-122461016	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr12:122459877-122459976	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr12:122461771-122461917	K562	blood:	n/a	n/a
22	CHD2	chr12:122459856-122459906	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr12:122461258-122461398	K562	blood:	n/a	n/a
24	CREB1	chr12:122459551-122460142	A549	lung:	n/a	n/a
25	CREB1	chr12:122459718-122460104	GM12878	blood:	n/a	n/a
26	CTCF	chr12:122461620-122461770	AG04449	skin:	n/a	n/a
27	CTCF	chr12:122460852-122460910	LNCaP	prostate:	n/a	n/a
28	CTCF	chr12:122462223-122462338	GM19239	blood:	n/a	n/a
29	CTCF	chr12:122462200-122462350	HMEC	breast:	n/a	n/a
30	CTCF	chr12:122459580-122459730	GM12871	blood:	n/a	n/a
31	CTCF	chr12:122461580-122461730	HRE	kidney:	n/a	n/a
32	CTCF	chr12:122462160-122462310	GM12872	blood:	n/a	n/a
33	CTCF	chr12:122461560-122461710	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr12:122459980-122460130	GM12868	blood:	n/a	n/a
35	CTCF	chr12:122461640-122461790	BJ	skin:	n/a	n/a
36	CTCF	chr12:122461420-122461570	HVMF	connective:	n/a	n/a
37	CTCF	chr12:122462180-122462330	GM12867	blood:	n/a	n/a
38	CTCF	chr12:122461180-122461330	AG04449	skin:	n/a	n/a
39	CTCF	chr12:122459580-122459730	GM12867	blood:	n/a	n/a
40	CTCF	chr12:122461660-122461810	GM12870	blood:	n/a	n/a
41	CTCF	chr12:122461600-122461750	BJ	skin:	n/a	n/a
42	CTCF	chr12:122462180-122462330	HepG2	liver:	n/a	n/a
43	CTCF	chr12:122459360-122459510	GM12870	blood:	n/a	n/a
44	CTCF	chr12:122461600-122461750	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr12:122461580-122461730	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr12:122461600-122461750	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr12:122461600-122461750	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:122461620-122461770	AG09319	gingival:	n/a	n/a
49	CTCF	chr12:122462320-122462470	RPTEC	kidney:	n/a	n/a
50	CTCF	chr12:122462201-122462395	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122461358-122461408	AoSMC	blood vessel:	n/a
2	chr12:122459934-122459984	ProgFib	skin:	n/a
3	chr12:122458940-122458990	GM06990	blood:	n/a
4	chr12:122461358-122461408	HEEpiC	esophagus:	n/a
5	chr12:122459966-122460016	HCF	heart:	n/a
6	chr12:122459509-122459559	MCF-7	breast:	n/a
7	chr12:122459934-122459984	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:122459509-122459559	HCT-116	colon:	n/a
9	chr12:122461295-122461345	HCPEpiC	choroid plexus:	n/a
10	chr12:122459966-122460016	SK-N-SH_RA	brain:	n/a
11	chr12:122459934-122459984	PANC-1	pancreas:	n/a
12	chr12:122460473-122460523	BJ	skin:	n/a
13	chr12:122460105-122460155	NHDF-neo	bronchial:	n/a
14	chr12:122460105-122460155	AG04450	lung:	fetal
15	chr12:122459695-122459745	HCT-116	colon:	n/a
16	chr12:122459695-122459745	SKMC	muscle:	n/a
17	chr12:122459966-122460016	A549	lung:	n/a
18	chr12:122459934-122459984	HCF	heart:	n/a
19	chr12:122461621-122461671	HRPEpiC	eye:	n/a
20	chr12:122461358-122461408	MCF-7	breast:	n/a
21	chr12:122461295-122461345	GM12891	blood:	n/a
22	chr12:122459509-122459559	IMR90	lung:	fetal
23	chr12:122459695-122459745	GM12878	blood:	n/a
24	chr12:122461621-122461671	SK-N-SH_RA	brain:	n/a
25	chr12:122458893-122458943	PrEC	prostate:	n/a
26	chr12:122459966-122460016	GM19239	blood:	n/a
27	chr12:122458893-122458943	ProgFib	skin:	n/a
28	chr12:122460473-122460523	AG09309	skin:	n/a
29	chr12:122461358-122461408	Hela-S3	cervix:	n/a
30	chr12:122459934-122459984	Caco-2	colon:	n/a
31	chr12:122458893-122458943	SK-N-SH_RA	brain:	n/a
32	chr12:122461621-122461671	ECC-1	luminal epithelium:	n/a
33	chr12:122459695-122459745	GM19239	blood:	n/a
34	chr12:122458940-122458990	HEEpiC	esophagus:	n/a
35	chr12:122459934-122459984	AG09309	skin:	n/a
36	chr12:122461621-122461671	Jurkat	blood:	n/a
37	chr12:122460473-122460523	HRE	kidney:	n/a
38	chr12:122459966-122460016	PrEC	prostate:	n/a
39	chr12:122460473-122460523	HCF	heart:	n/a
40	chr12:122459695-122459745	HRE	kidney:	n/a
41	chr12:122461621-122461671	PANC-1	pancreas:	n/a
42	chr12:122458940-122458990	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:122459934-122459984	HRPEpiC	eye:	n/a
44	chr12:122459966-122460016	AG04450	lung:	fetal
45	chr12:122460105-122460155	HIPEpiC	eye:	n/a
46	chr12:122458893-122458943	HCM	heart:	n/a
47	chr12:122459509-122459559	ovcar-3	ovarian:	n/a
48	chr12:122458940-122458990	ECC-1	luminal epithelium:	n/a
49	chr12:122461295-122461345	AG10803	skin:	n/a
50	chr12:122459509-122459559	AG04450	lung:	fetal

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
2	chr12:122461383..122462889-chr12:122756023..122758589,2	K562	blood:
3	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
4	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
5	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
6	chr12:122393562..122396353-chr12:122460972..122463920,2	K562	blood:
7	chr12:122460064..122462817-chr12:122499395..122500991,2	MCF-7	breast:
8	chr12:122355313..122357386-chr12:122460176..122462387,2	K562	blood:
9	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
10	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:
11	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
12	chr12:122459975..122462130-chr12:122612185..122613777,2	MCF-7	breast:
13	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
14	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
15	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
16	chr12:122235921..122238772-chr12:122461316..122462876,2	K562	blood:
17	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
18	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
19	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
20	chr12:122460578..122461397-chr21:47878363..47878963,2	Hela-S3	cervix:
21	chr12:122235276..122236948-chr12:122459921..122462305,2	MCF-7	breast:
22	chr12:122460432..122462517-chr12:122503179..122505981,2	MCF-7	breast:
23	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
24	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
25	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
26	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
27	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
28	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
29	chr12:122325408..122328152-chr12:122461584..122463358,2	K562	blood:
30	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
31	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
32	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
33	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:
34	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
35	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
36	chr12:122325420..122328140-chr12:122460188..122462460,4	MCF-7	breast:
37	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
38	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
39	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
40	chr12:122295977..122297667-chr12:122459919..122461653,2	K562	blood:
41	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
42	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
43	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
44	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
45	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPD-2	chr12:122457606-122457920	ENSG00000255856

No data

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

Extended variants
information (count: 330 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1720041	chr12:122457579-122457580	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111412452	chr12:122457592-122457593	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs528024952	chr12:122457606-122457607	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs552785035	chr12:122457696-122457697	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs571093242	chr12:122457697-122457698	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs538693817	chr12:122457711-122457712	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs574064263	chr12:122457758-122457759	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs367945814	chr12:122457776-122457777	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs550697267	chr12:122457815-122457816	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs568805792	chr12:122457913-122457914	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs201692703	chr12:122457935-122457936	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs192025148	chr12:122457936-122457937	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs141749279	chr12:122457953-122457954	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs554583111	chr12:122457971-122457972	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs145457853	chr12:122457986-122457987	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs369619172	chr12:122457995-122457996	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs534136578	chr12:122458106-122458107	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs140147191	chr12:122458137-122458138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs576630705	chr12:122458163-122458164	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs558567961	chr12:122458197-122458198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs183733199	chr12:122458200-122458201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs201863588	chr12:122458242-122458243	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs10840640	chr12:122458245-122458246	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs76352540	chr12:122458290-122458291	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs574746981	chr12:122458299-122458300	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs187949579	chr12:122458337-122458338	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs560566501	chr12:122458359-122458360	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs376472843	chr12:122458402-122458403	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs564540836	chr12:122458452-122458453	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs76853288	chr12:122458589-122458590	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr12:122456000-122457600	ZNF genes & repeats	Fetal Thymus	thymus
9	chr12:122456000-122457600	Enhancers	Dnd41	blood
10	chr12:122456400-122458800	Weak transcription	Pancreas	Pancrea
11	chr12:122456600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122456800-122458800	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:122457000-122458600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122457400-122457600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:122457400-122457600	Enhancers	Thymus	Thymus
16	chr12:122457400-122457800	ZNF genes & repeats	K562	blood
17	chr12:122457600-122457800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:122457600-122457800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:122457600-122457800	Flanking Active TSS	Dnd41	blood
20	chr12:122457600-122458000	Weak transcription	Fetal Thymus	thymus
21	chr12:122457600-122458000	Weak transcription	Thymus	Thymus
22	chr12:122457800-122458000	Enhancers	Dnd41	blood
23	chr12:122457800-122458400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:122457800-122458800	Enhancers	Primary B cells from cord blood	blood
25	chr12:122457800-122458800	Weak transcription	K562	blood
26	chr12:122458000-122458200	Flanking Active TSS	Dnd41	blood
27	chr12:122458000-122458600	Enhancers	Fetal Thymus	thymus
28	chr12:122458000-122458600	Enhancers	Thymus	Thymus
29	chr12:122458200-122458400	Enhancers	Dnd41	blood
30	chr12:122458400-122458600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:122458400-122458600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:122458400-122458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:122458400-122458600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:122458400-122458600	Enhancers	NHEK	skin
35	chr12:122458400-122458800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr12:122458400-122459000	Enhancers	Fetal Brain Male	brain
37	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood
38	chr12:122458600-122458800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:122458600-122458800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr12:122458600-122458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:122458600-122458800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:122458600-122458800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:122458600-122458800	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:122458600-122458800	Active TSS	Brain Germinal Matrix	brain
45	chr12:122458600-122458800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:122458600-122458800	Enhancers	Fetal Brain Female	brain
47	chr12:122458600-122458800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr12:122458600-122458800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:122458600-122458800	Active TSS	Thymus	Thymus
50	chr12:122458600-122458800	Active TSS	HSMMtube	muscle

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