Variant report

Variant	esv1830079
Chromosome Location	chr12:867299-887228
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	chr12:886012-886221	HepG2	liver:	n/a	n/a
2	BCLAF1	chr12:886788-887257	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:872331-872447	H1-hESC	embryonic stem cell:	n/a	chr12:872415-872426
4	CEBPB	chr12:877787-878039	HepG2	liver:	n/a	chr12:877931-877942 chr12:877933-877944 chr12:877933-877942 chr12:877931-877944
5	CEBPB	chr12:883175-883531	Hela-S3	cervix:	n/a	chr12:883369-883380 chr12:883369-883380
6	CEBPB	chr12:877842-878030	A549	lung:	n/a	chr12:877931-877942 chr12:877933-877944 chr12:877933-877942 chr12:877931-877944
7	CEBPB	chr12:867947-868188	K562	blood:	n/a	n/a
8	CEBPB	chr12:872302-872543	A549	lung:	n/a	chr12:872415-872426
9	CEBPB	chr12:872322-872537	HepG2	liver:	n/a	chr12:872415-872426
10	CEBPB	chr12:882285-882467	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr12:877930-877946	Hela-S3	cervix:	n/a	chr12:877931-877942 chr12:877933-877944 chr12:877933-877942 chr12:877931-877944
12	CHD2	chr12:877061-877162	GM12878	blood:	n/a	n/a
13	CTCF	chr12:879780-879930	BJ	skin:	n/a	chr12:879818-879839 chr12:879823-879841
14	CTCF	chr12:879740-879890	AG10803	skin:	n/a	chr12:879818-879839 chr12:879823-879841
15	CTCF	chr12:879780-879930	HL-60	blood:	n/a	chr12:879818-879839 chr12:879823-879841
16	CTCF	chr12:879760-879910	AG10803	skin:	n/a	chr12:879818-879839 chr12:879823-879841
17	CTCF	chr12:879760-879910	AG04449	skin:	n/a	chr12:879818-879839 chr12:879823-879841
18	CTCF	chr12:879779-879910	Spleen_OC	spleen:	n/a	chr12:879818-879839 chr12:879823-879841
19	CTCF	chr12:871326-871393	Kidney_OC	kidney:	n/a	n/a
20	EP300	chr12:883359-883690	SK-N-SH_RA	brain:	n/a	n/a
21	FOS	chr12:883202-883475	MCF10A-Er-Src	breast:	n/a	chr12:883456-883468
22	FOS	chr12:885958-886240	MCF10A-Er-Src	breast:	n/a	chr12:886067-886075 chr12:886068-886075
23	FOS	chr12:885929-886227	MCF10A-Er-Src	breast:	n/a	chr12:886067-886075 chr12:886068-886075
24	FOS	chr12:883196-883401	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr12:885920-886241	MCF10A-Er-Src	breast:	n/a	chr12:886067-886075 chr12:886068-886075
26	FOSL2	chr12:885908-886315	A549	lung:	n/a	chr12:886067-886075 chr12:886068-886075
27	FOXA1	chr12:885805-886307	HepG2	liver:	n/a	n/a
28	FOXA1	chr12:885892-886259	HepG2	liver:	n/a	n/a
29	FOXA2	chr12:885831-886314	A549	lung:	n/a	n/a
30	FOXA2	chr12:886008-886175	HepG2	liver:	n/a	n/a
31	GATA3	chr12:883399-884080	SK-N-SH	brain:	n/a	chr12:883481-883491
32	GATA3	chr12:877641-877838	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr12:877549-877975	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr12:877530-877972	SK-N-SH	brain:	n/a	n/a
35	IRF1	chr12:885127-885130	K562	blood:	n/a	n/a
36	JUND	chr12:886001-886181	HepG2	liver:	n/a	chr12:886067-886075 chr12:886068-886075
37	KAP1	chr12:883287-883948	HEK293	kidney:	n/a	n/a
38	MYC	chr12:883201-883377	NB4	blood:	n/a	chr12:883203-883213
39	MYC	chr12:873678-873739	MCF-7	breast:	n/a	n/a
40	MYC	chr12:883146-883533	MCF10A-Er-Src	breast:	n/a	chr12:883203-883213
41	MYC	chr12:883082-883512	MCF10A-Er-Src	breast:	n/a	chr12:883203-883213
42	PBX3	chr12:879744-880073	SK-N-SH	brain:	n/a	n/a
43	PBX3	chr12:883440-883747	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr12:874413-874879	GM12891	blood:	n/a	n/a
45	POLR2A	chr12:874021-874120	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:874512-875053	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:873756-874904	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:872398-872491	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:886679-886758	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr12:877029-877629	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:886615-886665	NT2-D1	testis:	n/a
2	chr12:886615-886665	NT2-D1	testis:	n/a
3	chr12:886615-886665	SK-N-SH_RA	brain:	n/a
4	chr12:886615-886665	Hepatocyte	liver:	n/a
5	chr12:886615-886665	HRE	kidney:	n/a
6	chr12:886615-886665	SAEC	small airway:	n/a
7	chr12:886615-886665	GM19239	blood:	n/a
8	chr12:886615-886665	HUVEC	blood vessel:	n/a
9	chr12:886615-886665	SK-N-SH	brain:	n/a
10	chr12:886615-886665	PFSK-1	brain:	n/a
11	chr12:886615-886665	NH-A	brain:	n/a
12	chr12:886615-886665	SKMC	muscle:	n/a
13	chr12:886615-886665	Caco-2	colon:	n/a
14	chr12:886615-886665	AG04449	skin:	fetal
15	chr12:886615-886665	NHDF-neo	bronchial:	n/a
16	chr12:886615-886665	ProgFib	skin:	n/a
17	chr12:886615-886665	HIPEpiC	eye:	n/a
18	chr12:886615-886665	AG10803	skin:	n/a
19	chr12:886615-886665	BE2_C	brain:	n/a
20	chr12:886615-886665	NHBE	bronchial:	n/a
21	chr12:886615-886665	ECC-1	luminal epithelium:	n/a
22	chr12:886615-886665	K562	blood:	n/a
23	chr12:886615-886665	HEK293	kidney:	embryo
24	chr12:886615-886665	HRPEpiC	eye:	n/a
25	chr12:886615-886665	AG04450	lung:	fetal
26	chr12:886615-886665	AG09319	gingival:	n/a
27	chr12:886615-886665	NB4	blood:	n/a
28	chr12:886615-886665	HMEC	breast:	n/a
29	chr12:886615-886665	ovcar-3	ovarian:	n/a
30	chr12:886615-886665	LNCaP	prostate:	n/a
31	chr12:886615-886665	AoSMC	blood vessel:	n/a
32	chr12:886615-886665	GM12891	blood:	n/a
33	chr12:886615-886665	HCM	heart:	n/a
34	chr12:886615-886665	SK-N-MC	brain:	n/a
35	chr12:886615-886665	CMK	blood:	n/a
36	chr12:886615-886665	HRCEpiC	kidney:	n/a
37	chr12:886615-886665	Hela-S3	cervix:	n/a
38	chr12:886615-886665	AG09309	skin:	n/a
39	chr12:886615-886665	RPTEC	kidney:	n/a
40	chr12:886615-886665	HCT-116	colon:	n/a
41	chr12:886615-886665	IMR90	lung:	fetal
42	chr12:886615-886665	GM12878	blood:	n/a
43	chr12:886615-886665	H1-hESC	embryonic stem cell:	embryo
44	chr12:886615-886665	GM12892	blood:	n/a
45	chr12:886615-886665	BJ	skin:	n/a
46	chr12:886615-886665	HL-60	blood:	n/a
47	chr12:886615-886665	HCF	heart:	n/a
48	chr12:886615-886665	HCPEpiC	choroid plexus:	n/a
49	chr12:886615-886665	PANC-1	pancreas:	n/a
50	chr12:886615-886665	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
2	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
3	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
4	chr12:876294..878971-chr12:885168..888118,2	K562	blood:
5	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
6	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
7	chr12:876294..878971-chr12:885168..888118,2	K562	blood:
8	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
9	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
10	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
11	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
12	chr12:864103..866169-chr12:883528..885181,2	K562	blood:
13	chr12:876367..879119-chr12:880594..883556,3	K562	blood:
14	chr12:881327..884915-chr12:893641..898608,4	K562	blood:
15	chr12:881327..883755-chr12:895131..898641,3	K562	blood:
16	chr12:860489..863381-chr12:877011..880566,3	MCF-7	breast:
17	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
18	chr12:876367..879119-chr12:880594..883556,3	K562	blood:

Variant related genes	Relation type
RNU4ATAC16P	TF binding region
RNU4ATAC16P	CpG island
ENSG00000177406	chromatin interactions
ENSG00000060237	chromatin interactions
ENSG00000171840	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 741 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577810622	chr12:867324-867325	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545153374	chr12:867353-867354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564686033	chr12:867358-867359	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188207550	chr12:867392-867393	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540843285	chr12:867396-867397	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182036896	chr12:867411-867412	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529550546	chr12:867435-867436	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550550619	chr12:867486-867487	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186478327	chr12:867495-867496	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146414279	chr12:867502-867503	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551551638	chr12:867512-867513	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs397957357	chr12:867564-867565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs6489747	chr12:867591-867592	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs533705220	chr12:867620-867621	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563115902	chr12:867655-867656	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7959054	chr12:867708-867709	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181881729	chr12:867710-867711	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7959060	chr12:867714-867715	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577747602	chr12:867718-867719	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543417378	chr12:867733-867734	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538643418	chr12:867743-867744	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553557677	chr12:867744-867745	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572109565	chr12:867769-867770	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540428921	chr12:867777-867778	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541539832	chr12:867812-867813	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs80207436	chr12:867813-867814	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530731041	chr12:867860-867861	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs61916728	chr12:867891-867892	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544184885	chr12:867892-867893	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529346709	chr12:867902-867903	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs76320605	chr12:867915-867916	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191581784	chr12:867939-867940	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562860296	chr12:867998-867999	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs150050456	chr12:868090-868091	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551758325	chr12:868093-868094	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs145911490	chr12:868175-868176	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145351497	chr12:868233-868234	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527827071	chr12:868242-868243	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs181266125	chr12:868314-868315	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185179455	chr12:868316-868317	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149190197	chr12:868322-868323	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528099289	chr12:868407-868408	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs548901158	chr12:868410-868411	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7962606	chr12:868411-868412	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs538209205	chr12:868535-868536	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs553739350	chr12:868551-868552	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111863870	chr12:868566-868567	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536390213	chr12:868636-868637	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555516402	chr12:868644-868645	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573863222	chr12:868654-868655	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:860000-867400	Active TSS	Right Atrium	heart
2	chr12:860000-867600	Active TSS	Right Ventricle	heart
3	chr12:863800-876600	Weak transcription	Spleen	Spleen
4	chr12:864400-872000	Weak transcription	Gastric	stomach
5	chr12:864400-883200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:864600-872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:864600-875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:864600-884600	Weak transcription	Aorta	Aorta
9	chr12:864800-868000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:865200-871400	Weak transcription	Left Ventricle	heart
11	chr12:865200-871600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:865200-872200	Weak transcription	Esophagus	oesophagus
13	chr12:865200-872800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:865200-874400	Weak transcription	Ovary	ovary
15	chr12:865200-883200	Weak transcription	Placenta	Placenta
16	chr12:865200-884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:865200-884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:865200-884600	Weak transcription	Lung	lung
19	chr12:865200-895600	Weak transcription	Pancreas	Pancrea
20	chr12:865400-871200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:865400-873600	Weak transcription	Fetal Kidney	kidney
22	chr12:865800-868600	Weak transcription	Fetal Thymus	thymus
23	chr12:865800-869400	Enhancers	Fetal Brain Male	brain
24	chr12:865800-871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:866000-868600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:866000-871400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:866000-872400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:866000-873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:866000-883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:866000-889200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:866200-867600	Enhancers	Fetal Heart	heart
32	chr12:866200-868000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:866200-868200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:866200-871400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:866200-872000	Weak transcription	Fetal Stomach	stomach
36	chr12:866200-877000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:866200-883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:866200-885000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:866400-867400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:866400-867400	Enhancers	Brain Hippocampus Middle	brain
41	chr12:866400-867600	Weak transcription	HUVEC	blood vessel
42	chr12:866400-867600	Weak transcription	K562	blood
43	chr12:866400-867800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr12:866400-868200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:866400-868800	Weak transcription	Osteobl	bone
46	chr12:866400-869000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:866400-870200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:866400-870400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:866400-870400	Weak transcription	NH-A	brain
50	chr12:866400-870400	Weak transcription	NHDF-Ad	bronchial

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