Variant report

Variant	esv3388007
Chromosome Location	chr12:123872699-123875347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:366)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 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	chr12:123872141-123873037	K562	blood:	n/a	n/a
2	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
3	ATF2	chr12:123872859-123873307	GM12878	blood:	n/a	n/a
4	BACH1	chr12:123872212-123873052	K562	blood:	n/a	n/a
5	BCLAF1	chr12:123872847-123873364	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:123873472-123873547	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:123871961-123873162	K562	blood:	n/a	n/a
8	BHLHE40	chr12:123872863-123873228	GM12878	blood:	n/a	n/a
9	BRCA1	chr12:123873103-123873374	GM12878	blood:	n/a	n/a
10	CBX3	chr12:123871927-123873272	K562	blood:	n/a	n/a
11	CBX3	chr12:123872436-123873022	K562	blood:	n/a	n/a
12	CCNT2	chr12:123872168-123874833	K562	blood:	n/a	n/a
13	CEBPB	chr12:123872227-123873092	K562	blood:	n/a	n/a
14	CEBPB	chr12:123873220-123873222	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:123872099-123873143	K562	blood:	n/a	n/a
16	CEBPD	chr12:123872026-123873173	K562	blood:	n/a	n/a
17	CEBPD	chr12:123871766-123873277	K562	blood:	n/a	n/a
18	CEBPD	chr12:123873394-123873663	HepG2	liver:	n/a	n/a
19	CHD1	chr12:123872993-123873125	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr12:123874289-123874302	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr12:123872906-123873570	GM12878	blood:	n/a	n/a
22	CHD2	chr12:123873190-123873649	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr12:123872308-123873529	K562	blood:	n/a	n/a
24	CHD2	chr12:123873155-123873536	HepG2	liver:	n/a	n/a
25	CHD2	chr12:123874352-123874413	GM12878	blood:	n/a	n/a
26	CHD2	chr12:123873357-123873383	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr12:123873022-123873718	A549	lung:	n/a	n/a
28	CREB1	chr12:123873952-123874248	A549	lung:	n/a	n/a
29	CTCF	chr12:123873500-123873650	GM12875	blood:	n/a	n/a
30	CTCF	chr12:123875180-123875330	AG04449	skin:	n/a	n/a
31	CTCF	chr12:123875020-123875170	HAc	cerebellar:	n/a	n/a
32	CTCF	chr12:123873309-123873430	GM19238	blood:	n/a	n/a
33	CTCF	chr12:123875120-123875270	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr12:123875120-123875270	HRE	kidney:	n/a	n/a
35	CTCF	chr12:123873520-123873684	GM19238	blood:	n/a	n/a
36	CTCF	chr12:123873080-123873230	GM12871	blood:	n/a	n/a
37	CTCF	chr12:123873560-123873652	GM19240	blood:	n/a	n/a
38	CTCF	chr12:123873040-123873190	GM12875	blood:	n/a	n/a
39	CTCF	chr12:123873740-123873890	GM12874	blood:	n/a	n/a
40	CTCF	chr12:123875220-123875370	HAc	cerebellar:	n/a	n/a
41	CTCF	chr12:123875200-123875350	AG04449	skin:	n/a	n/a
42	CTCF	chr12:123873586-123873646	GM12878	blood:	n/a	n/a
43	CTCF	chr12:123874820-123874970	SAEC	small airway:	n/a	n/a
44	CTCF	chr12:123873520-123873670	GM12864	blood:	n/a	n/a
45	CTCF	chr12:123875120-123875270	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr12:123873280-123873430	GM12871	blood:	n/a	n/a
47	CTCF	chr12:123874100-123874250	AG04449	skin:	n/a	n/a
48	CTCF	chr12:123874260-123874410	GM12873	blood:	n/a	n/a
49	CTCF	chr12:123873240-123873390	AG10803	skin:	n/a	n/a
50	CTCF	chr12:123873260-123873410	SK-N-SH_RA	brain:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123873524-123873574	Hela-S3	cervix:	n/a
2	chr12:123874466-123874516	Hela-S3	cervix:	n/a
3	chr12:123874707-123874757	BJ	skin:	n/a
4	chr12:123874456-123874506	ProgFib	skin:	n/a
5	chr12:123873524-123873574	K562	blood:	n/a
6	chr12:123874298-123874348	MCF-7	breast:	n/a
7	chr12:123874243-123874293	Hela-S3	cervix:	n/a
8	chr12:123874298-123874348	Caco-2	colon:	n/a
9	chr12:123874243-123874293	SK-N-SH	brain:	n/a
10	chr12:123874707-123874757	AG09319	gingival:	n/a
11	chr12:123874298-123874348	Jurkat	blood:	n/a
12	chr12:123874298-123874348	ProgFib	skin:	n/a
13	chr12:123873524-123873574	SK-N-SH_RA	brain:	n/a
14	chr12:123874456-123874506	BE2_C	brain:	n/a
15	chr12:123874707-123874757	NHBE	bronchial:	n/a
16	chr12:123873524-123873574	SKMC	muscle:	n/a
17	chr12:123873524-123873574	MCF10A-Er-Src	breast:	n/a
18	chr12:123874243-123874293	GM12892	blood:	n/a
19	chr12:123874466-123874516	A549	lung:	n/a
20	chr12:123874466-123874516	H1-hESC	embryonic stem cell:	embryo
21	chr12:123874243-123874293	Jurkat	blood:	n/a
22	chr12:123874707-123874757	GM19239	blood:	n/a
23	chr12:123874456-123874506	HAEpiC	amniotic membrane:	n/a
24	chr12:123874456-123874506	GM12892	blood:	n/a
25	chr12:123873524-123873574	NH-A	brain:	n/a
26	chr12:123873524-123873574	AG10803	skin:	n/a
27	chr12:123874298-123874348	PrEC	prostate:	n/a
28	chr12:123874707-123874757	IMR90	lung:	fetal
29	chr12:123874707-123874757	HCF	heart:	n/a
30	chr12:123873524-123873574	HL-60	blood:	n/a
31	chr12:123874466-123874516	HAEpiC	amniotic membrane:	n/a
32	chr12:123874456-123874506	NHBE	bronchial:	n/a
33	chr12:123874298-123874348	SK-N-SH_RA	brain:	n/a
34	chr12:123874243-123874293	HepG2	liver:	n/a
35	chr12:123874466-123874516	AG04449	skin:	fetal
36	chr12:123874243-123874293	HEK293	kidney:	embryo
37	chr12:123874707-123874757	SK-N-MC	brain:	n/a
38	chr12:123874707-123874757	Hela-S3	cervix:	n/a
39	chr12:123874707-123874757	Caco-2	colon:	n/a
40	chr12:123874456-123874506	HRE	kidney:	n/a
41	chr12:123874456-123874506	NH-A	brain:	n/a
42	chr12:123874456-123874506	HL-60	blood:	n/a
43	chr12:123873524-123873574	ProgFib	skin:	n/a
44	chr12:123874707-123874757	ECC-1	luminal epithelium:	n/a
45	chr12:123874243-123874293	HIPEpiC	eye:	n/a
46	chr12:123874456-123874506	HCM	heart:	n/a
47	chr12:123874456-123874506	SK-N-SH_RA	brain:	n/a
48	chr12:123874466-123874516	HIPEpiC	eye:	n/a
49	chr12:123874243-123874293	ProgFib	skin:	n/a
50	chr12:123874456-123874506	AG04450	lung:	fetal

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:
2	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
3	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
4	chr12:123870684..123873491-chr12:123941342..123943069,2	MCF-7	breast:
5	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
6	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
7	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
8	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
9	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
10	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
11	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
12	chr12:123458609..123460830-chr12:123870435..123872750,2	K562	blood:
13	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
14	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
15	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
16	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
17	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
18	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
19	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
20	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
21	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
22	chr12:123717467..123721119-chr12:123869942..123873013,3	K562	blood:
23	chr12:123872765..123874584-chr2:91935567..91938569,3	MCF-7	breast:
24	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
25	chr12:123871220..123873431-chr12:123897619..123900288,2	K562	blood:
26	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
27	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
28	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
29	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
30	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-4	chr12:123872989-123873304	NONHSAT031588

No data

Variant related genes	Relation type
SETD8	TF binding region
SETD8	CpG island
ENSG00000051825	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000232531	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000181830	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000150977	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190928879	chr12:123872705-123872706	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs376681644	chr12:123872721-123872722	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs369100800	chr12:123872764-123872765	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs201299239	chr12:123872784-123872785	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs553333201	chr12:123872803-123872804	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs533288001	chr12:123872813-123872814	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs373267595	chr12:123872840-123872841	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs182054028	chr12:123872882-123872883	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs538785150	chr12:123872903-123872904	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs377697640	chr12:123872933-123872934	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs554756197	chr12:123872946-123872947	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs557021865	chr12:123873042-123873043	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
13	rs575862342	chr12:123873043-123873044	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
14	rs543626298	chr12:123873125-123873126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
15	rs555239588	chr12:123873134-123873135	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
16	rs573889443	chr12:123873173-123873174	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
17	rs369997654	chr12:123873202-123873203	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
18	rs559438245	chr12:123873204-123873205	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
19	rs532948035	chr12:123873205-123873206	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
20	rs567772427	chr12:123873208-123873209	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
21	rs28533432	chr12:123873242-123873243	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs563393017	chr12:123873254-123873255	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
23	rs530488294	chr12:123873295-123873296	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
24	rs528195473	chr12:123873311-123873312	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs549562548	chr12:123873315-123873316	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs567705664	chr12:123873886-123873887	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs112525458	chr12:123874000-123874001	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs186822980	chr12:123874034-123874035	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs528826116	chr12:123874271-123874272	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs546878122	chr12:123874272-123874273	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs553628309	chr12:123874288-123874289	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs538629612	chr12:123874361-123874362	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs377314405	chr12:123874371-123874372	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs191388726	chr12:123874407-123874408	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs370931623	chr12:123874410-123874411	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs28438946	chr12:123874423-123874424	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs374749850	chr12:123874430-123874431	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs536310553	chr12:123874469-123874470	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs555542202	chr12:123874480-123874481	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs117885828	chr12:123874585-123874586	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs370023264	chr12:123874657-123874658	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs545510428	chr12:123874680-123874681	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs541356142	chr12:123874700-123874701	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs183149628	chr12:123874713-123874714	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs577977465	chr12:123874746-123874747	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs188580281	chr12:123874818-123874819	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs563233776	chr12:123874860-123874861	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs140782374	chr12:123874899-123874900	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs76801833	chr12:123874937-123874938	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs561567780	chr12:123875015-123875016	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123869600-123873000	Weak transcription	Aorta	Aorta
2	chr12:123869800-123872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:123870200-123872800	Flanking Active TSS	K562	blood
4	chr12:123871400-123872800	Enhancers	Psoas Muscle	Psoas
5	chr12:123871800-123872800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:123871800-123872800	Enhancers	Esophagus	oesophagus
7	chr12:123871800-123872800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:123871800-123872800	Enhancers	Spleen	Spleen
9	chr12:123872000-123872800	Enhancers	Fetal Stomach	stomach
10	chr12:123872000-123872800	Enhancers	Pancreas	Pancrea
11	chr12:123872000-123872800	Flanking Active TSS	GM12878-XiMat	blood
12	chr12:123872000-123873000	Flanking Active TSS	HepG2	liver
13	chr12:123872000-123873000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:123872000-123873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:123872000-123873200	Flanking Active TSS	Dnd41	blood
16	chr12:123872200-123872800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:123872200-123872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:123872200-123872800	Enhancers	Brain Substantia Nigra	brain
19	chr12:123872200-123872800	Flanking Active TSS	Colonic Mucosa	Colon
20	chr12:123872200-123872800	Enhancers	Right Atrium	heart
21	chr12:123872200-123872800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:123872200-123873000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:123872200-123873000	Enhancers	Gastric	stomach
24	chr12:123872200-123873000	Enhancers	Lung	lung
25	chr12:123872200-123873200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:123872200-123873200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:123872200-123873200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:123872200-123873200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:123872200-123873200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:123872200-123873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:123872200-123873200	Flanking Active TSS	Fetal Brain Male	brain
32	chr12:123872200-123873200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:123872200-123873200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:123872200-123873200	Flanking Active TSS	Hela-S3	cervix
35	chr12:123872400-123872800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:123872400-123872800	Enhancers	Brain Angular Gyrus	brain
37	chr12:123872400-123872800	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:123872400-123872800	Flanking Active TSS	Fetal Brain Female	brain
39	chr12:123872400-123873000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:123872400-123873000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:123872400-123873000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:123872400-123873000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:123872400-123873000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:123872400-123873000	Flanking Active TSS	Fetal Heart	heart
45	chr12:123872400-123873000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:123872400-123873000	Flanking Active TSS	A549	lung
47	chr12:123872400-123873000	Transcr. at gene 5' and 3'	NHEK	skin
48	chr12:123872400-123873200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr12:123872400-123873200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:123872400-123873200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links