Variant report

Variant	esv275173
Chromosome Location	chr12:4385592-4386221
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	chr12:4386157-4386394	HepG2	liver:	n/a	n/a
2	ATF2	chr12:4386063-4386514	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:4385896-4386589	GM12878	blood:	n/a	n/a
4	ATF2	chr12:4385982-4386561	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:4386083-4386600	GM12878	blood:	n/a	n/a
6	ATF3	chr12:4386016-4386477	A549	lung:	n/a	n/a
7	BATF	chr12:4385950-4386479	GM12878	blood:	n/a	n/a
8	BCL11A	chr12:4386092-4386361	GM12878	blood:	n/a	n/a
9	BCLAF1	chr12:4385959-4386546	GM12878	blood:	n/a	n/a
10	BCLAF1	chr12:4385886-4386513	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:4386048-4386434	K562	blood:	n/a	n/a
12	BHLHE40	chr12:4386049-4386528	GM12878	blood:	n/a	n/a
13	BRCA1	chr12:4386170-4386443	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr12:4386123-4386362	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:4386162-4386472	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:4386060-4386447	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr12:4386099-4386505	Hela-S3	cervix:	n/a	n/a
18	CHD1	chr12:4386026-4386439	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr12:4378508-4385725	GM12878	blood:	n/a	chr12:4379156-4379166 chr12:4381510-4381520 chr12:4384238-4384248
20	CHD1	chr12:4386042-4386530	GM12878	blood:	n/a	n/a
21	CHD2	chr12:4385991-4386514	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr12:4386039-4386443	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr12:4385914-4386571	GM12878	blood:	n/a	n/a
24	CHD2	chr12:4385973-4386429	HepG2	liver:	n/a	n/a
25	CHD2	chr12:4385897-4386565	K562	blood:	n/a	n/a
26	CTCF	chr12:4386047-4386416	A549	lung:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
27	CTCF	chr12:4386180-4386330	HCT-116	colon:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
28	CTCF	chr12:4386118-4386534	MCF-7	breast:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
29	CTCF	chr12:4386164-4386437	HUVEC	blood vessel:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
30	CTCF	chr12:4386220-4386370	NHDF-neo	bronchial:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
31	CTCF	chr12:4386220-4386370	WERI-Rb-1	eye:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
32	CTCF	chr12:4386134-4386465	Kidney_OC	kidney:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
33	CTCF	chr12:4386200-4386350	WERI-Rb-1	eye:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
34	CTCF	chr12:4386160-4386310	NHEK	skin:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
35	CTCF	chr12:4386200-4386350	GM12864	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
36	CTCF	chr12:4386200-4386350	GM12875	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
37	CTCF	chr12:4386180-4386330	WI-38	lung:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
38	CTCF	chr12:4386220-4386370	GM12865	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
39	CTCF	chr12:4386200-4386350	Hela-S3	cervix:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
40	CTCF	chr12:4386105-4386482	Spleen_OC	spleen:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
41	CTCF	chr12:4386180-4386330	K562	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
42	CTCF	chr12:4386220-4386370	HPF	lung:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
43	CTCF	chr12:4386134-4386430	LNCaP	prostate:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
44	CTCF	chr12:4386220-4386370	GM12873	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
45	CTCF	chr12:4386220-4386370	GM12872	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
46	CTCF	chr12:4386155-4386430	A549	lung:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
47	CTCF	chr12:4386169-4386480	GM10248	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
48	CTCF	chr12:4386200-4386350	NHDF-neo	bronchial:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
49	CTCF	chr12:4386192-4386410	GM20000	blood:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290
50	CTCF	chr12:4386200-4386350	HepG2	liver:	n/a	chr12:4386277-4386295 chr12:4386278-4386294 chr12:4386272-4386293 chr12:4386282-4386290

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4386203-4386253	SK-N-SH	brain:	n/a
2	chr12:4386203-4386253	SK-N-SH	brain:	n/a
3	chr12:4386121-4386171	HL-60	blood:	n/a
4	chr12:4386121-4386171	AG09309	skin:	n/a
5	chr12:4386121-4386171	HAEpiC	amniotic membrane:	n/a
6	chr12:4386121-4386171	K562	blood:	n/a
7	chr12:4386203-4386253	Jurkat	blood:	n/a
8	chr12:4386203-4386253	HMEC	breast:	n/a
9	chr12:4386203-4386253	MCF-7	breast:	n/a
10	chr12:4386203-4386253	AG09319	gingival:	n/a
11	chr12:4386203-4386253	NHDF-neo	bronchial:	n/a
12	chr12:4386203-4386253	NHBE	bronchial:	n/a
13	chr12:4386121-4386171	AoSMC	blood vessel:	n/a
14	chr12:4386121-4386171	HNPCEpiC	eye:	n/a
15	chr12:4386203-4386253	BJ	skin:	n/a
16	chr12:4386121-4386171	GM12891	blood:	n/a
17	chr12:4386121-4386171	NHBE	bronchial:	n/a
18	chr12:4386203-4386253	HEEpiC	esophagus:	n/a
19	chr12:4386203-4386253	MCF10A-Er-Src	breast:	n/a
20	chr12:4386203-4386253	Caco-2	colon:	n/a
21	chr12:4386203-4386253	PrEC	prostate:	n/a
22	chr12:4386203-4386253	NB4	blood:	n/a
23	chr12:4386203-4386253	T-47D	breast:	n/a
24	chr12:4386121-4386171	BE2_C	brain:	n/a
25	chr12:4386121-4386171	IMR90	lung:	fetal
26	chr12:4386203-4386253	NH-A	brain:	n/a
27	chr12:4386121-4386171	AG04450	lung:	fetal
28	chr12:4386121-4386171	AG10803	skin:	n/a
29	chr12:4386203-4386253	HNPCEpiC	eye:	n/a
30	chr12:4386203-4386253	HCF	heart:	n/a
31	chr12:4386203-4386253	GM12892	blood:	n/a
32	chr12:4386121-4386171	SKMC	muscle:	n/a
33	chr12:4386121-4386171	Hepatocyte	liver:	n/a
34	chr12:4386121-4386171	HEK293	kidney:	embryo
35	chr12:4386121-4386171	HRE	kidney:	n/a
36	chr12:4386203-4386253	SAEC	small airway:	n/a
37	chr12:4386121-4386171	AG04449	skin:	fetal
38	chr12:4386121-4386171	NB4	blood:	n/a
39	chr12:4386203-4386253	ProgFib	skin:	n/a
40	chr12:4386121-4386171	ProgFib	skin:	n/a
41	chr12:4386203-4386253	GM19239	blood:	n/a
42	chr12:4386203-4386253	IMR90	lung:	fetal
43	chr12:4386203-4386253	PFSK-1	brain:	n/a
44	chr12:4386121-4386171	ECC-1	luminal epithelium:	n/a
45	chr12:4386121-4386171	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:4386203-4386253	HCM	heart:	n/a
47	chr12:4386203-4386253	HRCEpiC	kidney:	n/a
48	chr12:4386203-4386253	ovcar-3	ovarian:	n/a
49	chr12:4386121-4386171	HCF	heart:	n/a
50	chr12:4386203-4386253	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:4216482..4217070-chr12:4385866..4386804,2	NB4	blood:
2	chr12:3992395..3993001-chr12:4385802..4386611,2	MCF-7	breast:
3	chr12:4216455..4217156-chr12:4385829..4386409,2	MCF-7	breast:
4	chr12:4104787..4105607-chr12:4385997..4386676,2	MCF-7	breast:
5	chr12:4216655..4217210-chr12:4385805..4386330,2	K562	blood:
6	chr11:818755..819637-chr12:4385344..4386078,2	NB4	blood:
7	chr12:3994703..3995335-chr12:4385793..4386765,3	MCF-7	breast:
8	chr12:4104755..4105582-chr12:4385820..4386626,2	K562	blood:

Variant related genes	Relation type
CCND2-AS1	TF binding region
CCND2	TF binding region
CCND2-AS2	TF binding region
CCND2-AS1	CpG island
CCND2	CpG island
CCND2-AS2	CpG island
ENSG00000177666	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575770473	chr12:4385639-4385640	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs372427912	chr12:4385640-4385641	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs546891429	chr12:4385688-4385689	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs552073087	chr12:4385689-4385690	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565994575	chr12:4385756-4385757	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs180828876	chr12:4385765-4385766	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs548248020	chr12:4385785-4385786	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs566704133	chr12:4385792-4385793	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374090028	chr12:4385797-4385798	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs140175579	chr12:4385802-4385803	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs3217793	chr12:4385824-4385825	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557040851	chr12:4385843-4385844	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs3217794	chr12:4385881-4385882	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184506823	chr12:4385904-4385905	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs553268615	chr12:4385906-4385907	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113207644	chr12:4385931-4385932	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs573245389	chr12:4386020-4386021	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs189829405	chr12:4386036-4386037	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs3217795	chr12:4386064-4386065	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575261539	chr12:4386071-4386072	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs181104273	chr12:4386086-4386087	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs3217796	chr12:4386105-4386106	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs147764243	chr12:4386124-4386125	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
24	rs373479878	chr12:4386126-4386127	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
25	rs544986899	chr12:4386208-4386209	Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
26	rs546026639	chr12:4386211-4386212	Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4377600-4386000	Active TSS	Aorta	Aorta
2	chr12:4377600-4386200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:4378200-4385600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:4378200-4385800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:4381000-4385600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:4382000-4388000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:4382200-4386000	Active TSS	Right Atrium	heart
8	chr12:4383000-4386200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
9	chr12:4383400-4386000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr12:4383400-4386200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr12:4383600-4386400	Active TSS	Brain Angular Gyrus	brain
12	chr12:4384000-4385600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:4384000-4385600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr12:4384000-4385600	Active TSS	HSMMtube	muscle
15	chr12:4384400-4388000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr12:4384400-4390600	Weak transcription	Gastric	stomach
17	chr12:4384600-4387000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr12:4384800-4385600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:4384800-4386600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:4384800-4386600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
21	chr12:4384800-4388200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:4385000-4385600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:4385000-4385600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:4385000-4385600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr12:4385000-4385800	Enhancers	Primary B cells from cord blood	blood
26	chr12:4385000-4385800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr12:4385000-4385800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:4385000-4385800	Bivalent Enhancer	Liver	Liver
29	chr12:4385000-4386200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:4385000-4386600	Transcr. at gene 5' and 3'	NHEK	skin
31	chr12:4385000-4387000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:4385000-4390000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
33	chr12:4385200-4385600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:4385200-4385600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr12:4385200-4385600	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:4385200-4385600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:4385200-4385600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:4385200-4385600	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
39	chr12:4385200-4385600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:4385200-4385600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:4385200-4385600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr12:4385200-4385600	Flanking Active TSS	Colonic Mucosa	Colon
43	chr12:4385200-4385600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
44	chr12:4385200-4385600	Transcr. at gene 5' and 3'	Fetal Lung	lung
45	chr12:4385200-4385600	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr12:4385200-4385600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:4385200-4385600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr12:4385200-4385600	Transcr. at gene 5' and 3'	HSMM	muscle
49	chr12:4385200-4385800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:4385200-4386000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood

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