Variant report

Variant	esv1845368
Chromosome Location	chr12:40498326-40499908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40498779-40498912	K562	blood:	n/a	n/a
2	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
3	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:40498670-40498870	K562	blood:	n/a	n/a
5	BACH1	chr12:40498672-40498821	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
7	BHLHE40	chr12:40499148-40500152	GM12878	blood:	n/a	chr12:40499900-40499909
8	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
9	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
10	BHLHE40	chr12:40499729-40500060	HepG2	liver:	n/a	chr12:40499900-40499909
11	CBX3	chr12:40498540-40498991	K562	blood:	n/a	n/a
12	CCNT2	chr12:40498953-40500070	K562	blood:	n/a	n/a
13	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
14	CEBPD	chr12:40499709-40499945	HepG2	liver:	n/a	n/a
15	CHD1	chr12:40499504-40499654	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr12:40499382-40499523	GM12878	blood:	n/a	n/a
17	CHD2	chr12:40499445-40499943	GM12878	blood:	n/a	chr12:40499881-40499891 chr12:40499847-40499857
18	CHD2	chr12:40498723-40498889	K562	blood:	n/a	chr12:40498850-40498860
19	CHD2	chr12:40498606-40499137	GM12878	blood:	n/a	chr12:40498850-40498860
20	CHD2	chr12:40499108-40499848	K562	blood:	n/a	n/a
21	CHD2	chr12:40499657-40499819	HepG2	liver:	n/a	n/a
22	CHD2	chr12:40498701-40500266	Hela-S3	cervix:	n/a	chr12:40498850-40498860 chr12:40499881-40499891 chr12:40499847-40499857
23	CREB1	chr12:40499023-40499614	A549	lung:	n/a	n/a
24	CREB1	chr12:40499005-40500250	HepG2	liver:	n/a	n/a
25	CREB1	chr12:40499618-40500115	A549	lung:	n/a	n/a
26	CTCF	chr12:40499180-40499330	Caco-2	colon:	n/a	n/a
27	CTCF	chr12:40499560-40499710	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr12:40499829-40499870	GM19239	blood:	n/a	n/a
29	CTCF	chr12:40499380-40499530	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr12:40499180-40499313	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:40499284-40499352	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr12:40499830-40500038	GM12878	blood:	n/a	n/a
33	CTCF	chr12:40499229-40499247	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:40499550-40499560	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr12:40499340-40499490	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr12:40499483-40499484	LNCaP	prostate:	n/a	n/a
37	CTCF	chr12:40499740-40499890	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:40499740-40499890	GM12872	blood:	n/a	n/a
39	CTCF	chr12:40499380-40499530	GM12865	blood:	n/a	n/a
40	CTCF	chr12:40498900-40499050	AG04449	skin:	n/a	n/a
41	CTCF	chr12:40499300-40499450	GM12871	blood:	n/a	n/a
42	CTCF	chr12:40499480-40499630	GM12867	blood:	n/a	n/a
43	CTCF	chr12:40499740-40499890	AG04449	skin:	n/a	n/a
44	CTCF	chr12:40499040-40499190	HepG2	liver:	n/a	n/a
45	CTCF	chr12:40499340-40499490	AG04449	skin:	n/a	n/a
46	CTCF	chr12:40499380-40499530	GM12866	blood:	n/a	n/a
47	CTCF	chr12:40499560-40499710	AG04450	lung:	n/a	n/a
48	CTCF	chr12:40499680-40499830	GM12869	blood:	n/a	n/a
49	CTCF	chr12:40499200-40499350	AG09319	gingival:	n/a	n/a
50	CTCF	chr12:40499779-40499961	Spleen_OC	spleen:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40499623-40499673	GM06990	blood:	n/a
2	chr12:40499623-40499673	HAEpiC	amniotic membrane:	n/a
3	chr12:40499811-40499861	RPTEC	kidney:	n/a
4	chr12:40499623-40499673	NT2-D1	testis:	n/a
5	chr12:40499811-40499861	ECC-1	luminal epithelium:	n/a
6	chr12:40499262-40499312	HCM	heart:	n/a
7	chr12:40499262-40499312	AG04450	lung:	fetal
8	chr12:40499262-40499312	IMR90	lung:	fetal
9	chr12:40499811-40499861	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:40499262-40499312	SAEC	small airway:	n/a
11	chr12:40499623-40499673	SK-N-SH	brain:	n/a
12	chr12:40499262-40499312	HEEpiC	esophagus:	n/a
13	chr12:40499262-40499312	HUVEC	blood vessel:	n/a
14	chr12:40499811-40499861	HRCEpiC	kidney:	n/a
15	chr12:40499623-40499673	AG04450	lung:	fetal
16	chr12:40499811-40499861	Jurkat	blood:	n/a
17	chr12:40499262-40499312	AG09309	skin:	n/a
18	chr12:40499623-40499673	PANC-1	pancreas:	n/a
19	chr12:40499623-40499673	HL-60	blood:	n/a
20	chr12:40499262-40499312	NT2-D1	testis:	n/a
21	chr12:40499811-40499861	Hepatocyte	liver:	n/a
22	chr12:40499811-40499861	HRPEpiC	eye:	n/a
23	chr12:40499811-40499861	GM12892	blood:	n/a
24	chr12:40499262-40499312	PANC-1	pancreas:	n/a
25	chr12:40499623-40499673	PFSK-1	brain:	n/a
26	chr12:40499811-40499861	AG09309	skin:	n/a
27	chr12:40499623-40499673	ProgFib	skin:	n/a
28	chr12:40499623-40499673	K562	blood:	n/a
29	chr12:40499811-40499861	NHDF-neo	bronchial:	n/a
30	chr12:40499811-40499861	A549	lung:	n/a
31	chr12:40499811-40499861	HUVEC	blood vessel:	n/a
32	chr12:40499811-40499861	LNCaP	prostate:	n/a
33	chr12:40499262-40499312	U87	brain:	n/a
34	chr12:40499811-40499861	GM19239	blood:	n/a
35	chr12:40499262-40499312	SK-N-SH	brain:	n/a
36	chr12:40499811-40499861	ovcar-3	ovarian:	n/a
37	chr12:40499623-40499673	GM19239	blood:	n/a
38	chr12:40499262-40499312	RPTEC	kidney:	n/a
39	chr12:40499811-40499861	HNPCEpiC	eye:	n/a
40	chr12:40499262-40499312	GM19239	blood:	n/a
41	chr12:40499262-40499312	HCF	heart:	n/a
42	chr12:40499623-40499673	MCF-7	breast:	n/a
43	chr12:40499262-40499312	ovcar-3	ovarian:	n/a
44	chr12:40499623-40499673	U87	brain:	n/a
45	chr12:40499623-40499673	H1-hESC	embryonic stem cell:	embryo
46	chr12:40499811-40499861	PFSK-1	brain:	n/a
47	chr12:40499623-40499673	AG09319	gingival:	n/a
48	chr12:40499262-40499312	BJ	skin:	n/a
49	chr12:40499262-40499312	AG10803	skin:	n/a
50	chr12:40499623-40499673	CMK	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:
2	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
3	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC2A13	TF binding region
SLC2A13	CpG island
ENSG00000133316	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1472118	chr12:40498326-40498327	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544152193	chr12:40498428-40498429	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562747931	chr12:40498448-40498449	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs552409998	chr12:40498488-40498489	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564138847	chr12:40498489-40498490	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs79205404	chr12:40498532-40498533	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547160505	chr12:40498537-40498538	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs75815039	chr12:40498558-40498559	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545806855	chr12:40498564-40498565	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532838807	chr12:40498566-40498567	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs78789847	chr12:40498671-40498672	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs17442511	chr12:40498683-40498684	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536656616	chr12:40498692-40498693	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs150524773	chr12:40498790-40498791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529201127	chr12:40498795-40498796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs567542779	chr12:40498832-40498833	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534646161	chr12:40498833-40498834	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs553110606	chr12:40498838-40498839	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs577935164	chr12:40498843-40498844	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs540328016	chr12:40498856-40498857	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539103421	chr12:40498858-40498859	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557502211	chr12:40498859-40498860	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575665257	chr12:40498870-40498871	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs543041889	chr12:40498952-40498953	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561721323	chr12:40498959-40498960	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs200778835	chr12:40499062-40499063	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs573465149	chr12:40499068-40499069	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs12815421	chr12:40499081-40499082	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs186341127	chr12:40499132-40499133	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565446090	chr12:40499143-40499144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369644372	chr12:40499166-40499167	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs551021028	chr12:40499191-40499192	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372872950	chr12:40499194-40499195	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs35914574	chr12:40499200-40499201	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs36065984	chr12:40499215-40499216	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs377169528	chr12:40499280-40499281	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370310828	chr12:40499292-40499293	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563045458	chr12:40499320-40499321	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs7305377	chr12:40499347-40499348	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs375372405	chr12:40499368-40499369	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs199796127	chr12:40499374-40499375	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs534891078	chr12:40499392-40499393	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201652147	chr12:40499401-40499402	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs35939613	chr12:40499410-40499411	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs571430072	chr12:40499428-40499429	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs538841712	chr12:40499444-40499445	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs557242708	chr12:40499462-40499463	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs34165158	chr12:40499479-40499480	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs34989307	chr12:40499482-40499483	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs35486972	chr12:40499497-40499498	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
2	chr12:40488200-40498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:40492400-40498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:40492800-40498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:40492800-40498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:40492800-40498600	Weak transcription	Lung	lung
7	chr12:40496800-40498400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:40496800-40498600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:40496800-40498600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:40496800-40499000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:40496800-40500400	Active TSS	Stomach Smooth Muscle	stomach
12	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
13	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:40497000-40498400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:40497000-40498400	Enhancers	Stomach Mucosa	stomach
17	chr12:40497000-40498600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:40497000-40498600	Enhancers	Liver	Liver
19	chr12:40497000-40498600	Weak transcription	Psoas Muscle	Psoas
20	chr12:40497000-40498600	Active TSS	Right Ventricle	heart
21	chr12:40497000-40498800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:40497000-40498800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:40497000-40498800	Flanking Active TSS	Hela-S3	cervix
24	chr12:40497000-40499000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:40497000-40500200	Active TSS	Brain Angular Gyrus	brain
26	chr12:40497000-40501600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:40497000-40501600	Active TSS	Fetal Kidney	kidney
28	chr12:40497200-40498400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:40497200-40498400	Enhancers	Fetal Muscle Leg	muscle
30	chr12:40497200-40498400	Active TSS	K562	blood
31	chr12:40497200-40498600	Weak transcription	Pancreas	Pancrea
32	chr12:40497200-40498800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:40497200-40499000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:40497200-40502200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:40497400-40498600	Active TSS	Brain Anterior Caudate	brain
36	chr12:40497400-40498800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:40497400-40498800	Enhancers	Fetal Heart	heart
38	chr12:40497400-40499000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr12:40497400-40500000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:40497400-40501600	Active TSS	Right Atrium	heart
41	chr12:40497600-40498400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:40497600-40498400	Enhancers	Adipose Nuclei	Adipose
43	chr12:40497600-40498400	Enhancers	NHDF-Ad	bronchial
44	chr12:40497600-40498600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:40497600-40499000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:40497600-40500400	Active TSS	Fetal Brain Female	brain
47	chr12:40497800-40498400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:40497800-40498400	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:40497800-40498400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:40497800-40498400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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