Variant report

Variant	esv3360781
Chromosome Location	chr12:64236510-64239058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:64237560-64237994	HepG2	liver:	n/a	n/a
2	ATF3	chr12:64237371-64238069	A549	lung:	n/a	n/a
3	ATF3	chr12:64237449-64238018	A549	lung:	n/a	n/a
4	BACH1	chr12:64237368-64237963	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:64238672-64238907	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr12:64237690-64237925	GM12878	blood:	n/a	n/a
7	BCL3	chr12:64237582-64237909	GM12878	blood:	n/a	chr12:64237583-64237596
8	BCL3	chr12:64238356-64239146	A549	lung:	n/a	n/a
9	BCLAF1	chr12:64237576-64238031	GM12878	blood:	n/a	chr12:64237583-64237596
10	BCLAF1	chr12:64237422-64238113	GM12878	blood:	n/a	chr12:64238031-64238044 chr12:64237583-64237596
11	BHLHE40	chr12:64237474-64238007	HepG2	liver:	n/a	chr12:64237962-64237978 chr12:64237615-64237631 chr12:64237744-64237760
12	BHLHE40	chr12:64237602-64237918	A549	lung:	n/a	chr12:64237615-64237631 chr12:64237744-64237760
13	BHLHE40	chr12:64237536-64237987	K562	blood:	n/a	chr12:64237962-64237978 chr12:64237615-64237631 chr12:64237744-64237760
14	BHLHE40	chr12:64237495-64238031	GM12878	blood:	n/a	chr12:64237962-64237978 chr12:64237615-64237631 chr12:64237744-64237760
15	BRCA1	chr12:64237631-64237909	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr12:64237499-64237992	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr12:64237390-64237914	HepG2	liver:	n/a	n/a
18	CBX3	chr12:64237584-64237913	K562	blood:	n/a	n/a
19	CCNT2	chr12:64237380-64238051	K562	blood:	n/a	n/a
20	CEBPB	chr12:64237678-64237919	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr12:64237457-64237971	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:64238686-64238825	HepG2	liver:	n/a	n/a
23	CEBPB	chr12:64238400-64240522	Hela-S3	cervix:	n/a	chr12:64239667-64239684 chr12:64240324-64240337
24	CHD1	chr12:64237568-64238192	H1-hESC	embryonic stem cell:	n/a	chr12:64237713-64237723
25	CHD1	chr12:64238139-64238471	GM12878	blood:	n/a	n/a
26	CHD1	chr12:64236913-64240863	IMR90	lung:	n/a	chr12:64237713-64237723
27	CHD2	chr12:64236941-64237933	GM12878	blood:	n/a	chr12:64237713-64237723
28	CHD2	chr12:64238134-64238179	GM12878	blood:	n/a	n/a
29	CHD2	chr12:64237328-64238035	HepG2	liver:	n/a	chr12:64237713-64237723
30	CHD2	chr12:64237377-64238092	H1-hESC	embryonic stem cell:	n/a	chr12:64237713-64237723
31	CHD2	chr12:64237369-64238958	Hela-S3	cervix:	n/a	chr12:64237713-64237723
32	CHD2	chr12:64237353-64237868	K562	blood:	n/a	chr12:64237713-64237723
33	CREB1	chr12:64237171-64238142	HepG2	liver:	n/a	n/a
34	CREB1	chr12:64237205-64238225	A549	lung:	n/a	n/a
35	CREB1	chr12:64237584-64237933	A549	lung:	n/a	n/a
36	CREB1	chr12:64237414-64238065	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr12:64237504-64238173	GM12878	blood:	n/a	n/a
38	CTBP2	chr12:64237259-64238979	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:64237740-64237890	NHEK	skin:	n/a	chr12:64237797-64237815 chr12:64237800-64237813 chr12:64237797-64237810
40	CTCF	chr12:64237720-64237870	GM12874	blood:	n/a	chr12:64237797-64237815 chr12:64237800-64237813 chr12:64237797-64237810
41	CTCF	chr12:64237660-64237810	GM12873	blood:	n/a	chr12:64237797-64237810
42	CTCF	chr12:64238420-64238570	NHEK	skin:	n/a	n/a
43	CTCF	chr12:64237700-64237850	HCT-116	colon:	n/a	chr12:64237797-64237815 chr12:64237800-64237813 chr12:64237797-64237810
44	CTCF	chr12:64238400-64238550	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr12:64238420-64238570	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:64237660-64237810	HAc	cerebellar:	n/a	chr12:64237797-64237810
47	CTCF	chr12:64237720-64237870	GM12873	blood:	n/a	chr12:64237797-64237815 chr12:64237800-64237813 chr12:64237797-64237810
48	CTCF	chr12:64237617-64237954	GM12878	blood:	n/a	chr12:64237797-64237815 chr12:64237652-64237665 chr12:64237800-64237813 chr12:64237797-64237810
49	CTCF	chr12:64237700-64237850	GM12867	blood:	n/a	chr12:64237797-64237815 chr12:64237800-64237813 chr12:64237797-64237810
50	CTCF	chr12:64238340-64238490	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64238538-64238588	AoSMC	blood vessel:	n/a
2	chr12:64238538-64238588	AoSMC	blood vessel:	n/a
3	chr12:64238379-64238429	HCPEpiC	choroid plexus:	n/a
4	chr12:64238325-64238375	HEK293	kidney:	embryo
5	chr12:64238366-64238416	ovcar-3	ovarian:	n/a
6	chr12:64238396-64238446	IMR90	lung:	fetal
7	chr12:64238424-64238474	AG10803	skin:	n/a
8	chr12:64238503-64238553	HMEC	breast:	n/a
9	chr12:64238396-64238446	MCF10A-Er-Src	breast:	n/a
10	chr12:64238424-64238474	GM12891	blood:	n/a
11	chr12:64238396-64238446	HL-60	blood:	n/a
12	chr12:64238396-64238446	Hepatocyte	liver:	n/a
13	chr12:64238396-64238446	HCT-116	colon:	n/a
14	chr12:64238538-64238588	HIPEpiC	eye:	n/a
15	chr12:64238503-64238553	GM12892	blood:	n/a
16	chr12:64238366-64238416	A549	lung:	n/a
17	chr12:64238379-64238429	AoSMC	blood vessel:	n/a
18	chr12:64238366-64238416	SKMC	muscle:	n/a
19	chr12:64238538-64238588	GM06990	blood:	n/a
20	chr12:64238607-64238657	SAEC	small airway:	n/a
21	chr12:64238538-64238588	SKMC	muscle:	n/a
22	chr12:64238607-64238657	ovcar-3	ovarian:	n/a
23	chr12:64238379-64238429	SK-N-MC	brain:	n/a
24	chr12:64238503-64238553	H1-hESC	embryonic stem cell:	embryo
25	chr12:64238325-64238375	SKMC	muscle:	n/a
26	chr12:64238043-64238093	HNPCEpiC	eye:	n/a
27	chr12:64238396-64238446	HRCEpiC	kidney:	n/a
28	chr12:64238043-64238093	BJ	skin:	n/a
29	chr12:64238424-64238474	AG09309	skin:	n/a
30	chr12:64238325-64238375	ECC-1	luminal epithelium:	n/a
31	chr12:64238396-64238446	H1-hESC	embryonic stem cell:	embryo
32	chr12:64238379-64238429	HRCEpiC	kidney:	n/a
33	chr12:64238503-64238553	K562	blood:	n/a
34	chr12:64238379-64238429	HCM	heart:	n/a
35	chr12:64238043-64238093	H1-hESC	embryonic stem cell:	embryo
36	chr12:64238396-64238446	LNCaP	prostate:	n/a
37	chr12:64237532-64237582	HCM	heart:	n/a
38	chr12:64238396-64238446	MCF-7	breast:	n/a
39	chr12:64238503-64238553	MCF-7	breast:	n/a
40	chr12:64238503-64238553	HIPEpiC	eye:	n/a
41	chr12:64238396-64238446	GM19239	blood:	n/a
42	chr12:64238379-64238429	BE2_C	brain:	n/a
43	chr12:64238719-64238769	T-47D	breast:	n/a
44	chr12:64238719-64238769	HL-60	blood:	n/a
45	chr12:64238503-64238553	Hepatocyte	liver:	n/a
46	chr12:64238719-64238769	HUVEC	blood vessel:	n/a
47	chr12:64238043-64238093	HRPEpiC	eye:	n/a
48	chr12:64237202-64237252	AG10803	skin:	n/a
49	chr12:64238325-64238375	HepG2	liver:	n/a
50	chr12:64238607-64238657	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
2	chr12:64238646..64240219-chr12:64329765..64332123,2	MCF-7	breast:
3	chr12:64234749..64237107-chr12:64586923..64589437,2	MCF-7	breast:
4	chr12:64235522..64237444-chr12:64652638..64654533,2	K562	blood:
5	chr12:50505708..50506336-chr12:64237320..64237922,2	Hela-S3	cervix:
6	chr12:64237304..64239476-chr12:64424891..64426645,2	MCF-7	breast:
7	chr12:64236758..64238491-chr12:64513269..64515825,2	MCF-7	breast:
8	chr12:64235952..64238772-chr12:64614485..64617363,3	K562	blood:
9	chr12:64238988..64240941-chr12:64313933..64315670,2	MCF-7	breast:
10	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:
11	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
SRGAP1	TF binding region
SRGAP1	CpG island
ENSG00000178449	chromatin interactions
ENSG00000118600	chromatin interactions
ENSG00000243024	chromatin interactions
ENSG00000174206	chromatin interactions
ENSG00000255817	chromatin interactions
ENSG00000272368	chromatin interactions
ENSG00000255780	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7958845	chr12:64236511-64236512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142083744	chr12:64236514-64236515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12298928	chr12:64236529-64236530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556879695	chr12:64236551-64236552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377403552	chr12:64236563-64236564	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576690281	chr12:64236579-64236580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs117796231	chr12:64236596-64236597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558895116	chr12:64236635-64236636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572504000	chr12:64236645-64236646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7958791	chr12:64236680-64236681	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572062239	chr12:64236727-64236728	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540748521	chr12:64236775-64236776	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs560513537	chr12:64236786-64236787	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs12812069	chr12:64236821-64236822	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs111988784	chr12:64236853-64236854	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs12812103	chr12:64236871-64236872	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs543413034	chr12:64236912-64236913	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs543044240	chr12:64236924-64236925	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs368024598	chr12:64236928-64236929	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs371815331	chr12:64236942-64236943	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs563598276	chr12:64236963-64236964	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs188659306	chr12:64236991-64236992	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs545941103	chr12:64237018-64237019	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs559283322	chr12:64237047-64237048	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs527755672	chr12:64237068-64237069	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs547927636	chr12:64237081-64237082	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs567794630	chr12:64237171-64237172	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530093507	chr12:64237214-64237215	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs549952613	chr12:64237246-64237247	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs373431288	chr12:64237258-64237259	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs538967665	chr12:64237271-64237272	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs369956190	chr12:64237277-64237278	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs566157866	chr12:64237325-64237326	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs78319251	chr12:64237340-64237341	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs114764341	chr12:64237361-64237362	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs73313479	chr12:64237404-64237405	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111708519	chr12:64237425-64237426	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs528919070	chr12:64237442-64237443	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs181362881	chr12:64237483-64237484	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs577018730	chr12:64237506-64237507	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs184404890	chr12:64237533-64237534	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs189034509	chr12:64237635-64237636	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs139203223	chr12:64237645-64237646	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs11175181	chr12:64237665-64237666	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs180911400	chr12:64237674-64237675	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs112469641	chr12:64237684-64237685	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs187017027	chr12:64237729-64237730	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs191052877	chr12:64237813-64237814	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs77959372	chr12:64237847-64237848	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs550103181	chr12:64237850-64237851	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:64230600-64237000	Weak transcription	Right Atrium	heart
3	chr12:64230800-64237000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:64231000-64237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:64232200-64236800	Weak transcription	Fetal Brain Female	brain
6	chr12:64234800-64236800	Weak transcription	A549	lung
7	chr12:64235400-64237000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:64235600-64237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:64235600-64237000	Weak transcription	NHDF-Ad	bronchial
10	chr12:64235800-64236600	Weak transcription	Fetal Brain Male	brain
11	chr12:64235800-64236800	Weak transcription	HepG2	liver
12	chr12:64235800-64237000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:64236000-64237000	Weak transcription	NHLF	lung
14	chr12:64236200-64236600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:64236600-64236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:64236600-64237000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:64236600-64237000	Enhancers	Fetal Brain Male	brain
18	chr12:64236800-64237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:64236800-64237000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:64236800-64237000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:64236800-64237000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:64236800-64237000	Active TSS	Adipose Nuclei	Adipose
23	chr12:64236800-64237000	Enhancers	Liver	Liver
24	chr12:64236800-64237000	Enhancers	Brain Angular Gyrus	brain
25	chr12:64236800-64237000	Enhancers	Fetal Heart	heart
26	chr12:64236800-64237000	Enhancers	Fetal Intestine Large	intestine
27	chr12:64236800-64237000	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:64236800-64237000	Flanking Active TSS	A549	lung
29	chr12:64236800-64237000	Active TSS	Hela-S3	cervix
30	chr12:64236800-64237000	Enhancers	HepG2	liver
31	chr12:64236800-64237000	Active TSS	HUVEC	blood vessel
32	chr12:64236800-64237200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:64236800-64238400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:64236800-64238400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:64236800-64238400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:64236800-64238600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr12:64236800-64238800	Active TSS	Fetal Brain Female	brain
38	chr12:64236800-64239600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:64236800-64239600	Active TSS	Brain Substantia Nigra	brain
40	chr12:64236800-64239600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:64236800-64240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:64236800-64240800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:64237000-64237200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:64237000-64237200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:64237000-64237200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:64237000-64237200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr12:64237000-64237200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr12:64237000-64237200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr12:64237000-64237200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:64237000-64237200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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