Variant report

Variant	nsv569
Chromosome Location	chr12:288974-305724
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	chr12:298349-298388	K562	blood:	n/a	n/a
2	ATF3	chr12:289702-289924	K562	blood:	n/a	n/a
3	BHLHE40	chr12:289673-290107	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:294691-295034	K562	blood:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294868-294877 chr12:294869-294878
5	BHLHE40	chr12:298401-298467	K562	blood:	n/a	n/a
6	BHLHE40	chr12:298253-298607	HepG2	liver:	n/a	n/a
7	BHLHE40	chr12:294714-295081	HepG2	liver:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294868-294877 chr12:294869-294878
8	BHLHE40	chr12:289650-290110	K562	blood:	n/a	n/a
9	BHLHE40	chr12:302513-302839	K562	blood:	n/a	chr12:302670-302679 chr12:302671-302680 chr12:302748-302764 chr12:302671-302680 chr12:302665-302686
10	BRCA1	chr12:298216-298256	HepG2	liver:	n/a	n/a
11	CCNT2	chr12:298259-298565	K562	blood:	n/a	n/a
12	CEBPB	chr12:299833-299960	K562	blood:	n/a	chr12:299932-299943
13	CEBPB	chr12:299770-300001	HepG2	liver:	n/a	chr12:299932-299943
14	CEBPD	chr12:298272-298550	HepG2	liver:	n/a	n/a
15	CHD2	chr12:298159-298475	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr12:289744-289944	GM12878	blood:	n/a	n/a
17	CHD2	chr12:291781-291791	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr12:298202-298629	A549	lung:	n/a	n/a
19	CTCF	chr12:298380-298530	GM12870	blood:	n/a	chr12:298430-298443 chr12:298428-298446
20	CTCF	chr12:297925-298905	A549	lung:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
21	CTCF	chr12:298420-298570	HBMEC	blood vessel:	n/a	chr12:298430-298443 chr12:298428-298446
22	CTCF	chr12:298293-298558	GM10248	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
23	CTCF	chr12:298440-298590	GM12870	blood:	n/a	n/a
24	CTCF	chr12:298440-298590	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr12:298400-298550	HPAF	blood vessel:	n/a	chr12:298430-298443 chr12:298428-298446
26	CTCF	chr12:298340-298490	HVMF	connective:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
27	CTCF	chr12:298308-298532	GM20000	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
28	CTCF	chr12:298360-298510	WI-38	lung:	n/a	chr12:298430-298443 chr12:298428-298446
29	CTCF	chr12:297994-298630	H1-hESC	embryonic stem cell:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
30	CTCF	chr12:298271-298584	NHEK	skin:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
31	CTCF	chr12:298369-298514	Hela-S3	cervix:	n/a	chr12:298430-298443 chr12:298428-298446
32	CTCF	chr12:298340-298490	GM12868	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
33	CTCF	chr12:298329-298566	Medullo	brain:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
34	CTCF	chr12:298380-298530	WERI-Rb-1	eye:	n/a	chr12:298430-298443 chr12:298428-298446
35	CTCF	chr12:298400-298550	NHEK	skin:	n/a	chr12:298430-298443 chr12:298428-298446
36	CTCF	chr12:298400-298550	HEK293	kidney:	n/a	chr12:298430-298443 chr12:298428-298446
37	CTCF	chr12:298920-299070	NHDF-neo	bronchial:	n/a	chr12:299002-299012
38	CTCF	chr12:298360-298510	HEEpiC	esophagus:	n/a	chr12:298430-298443 chr12:298428-298446
39	CTCF	chr12:298301-298568	GM12892	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
40	CTCF	chr12:298274-298611	H1-hESC	embryonic stem cell:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
41	CTCF	chr12:298400-298550	GM12867	blood:	n/a	chr12:298430-298443 chr12:298428-298446
42	CTCF	chr12:298172-298614	H1-hESC	embryonic stem cell:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
43	CTCF	chr12:296082-296194	HepG2	liver:	n/a	chr12:296091-296112 chr12:296096-296114 chr12:296098-296111
44	CTCF	chr12:291500-291650	GM12878	blood:	n/a	n/a
45	CTCF	chr12:298400-298550	AG09319	gingival:	n/a	chr12:298430-298443 chr12:298428-298446
46	CTCF	chr12:298320-298470	HCM	heart:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
47	CTCF	chr12:298380-298530	GM12875	blood:	n/a	chr12:298430-298443 chr12:298428-298446
48	CTCF	chr12:298380-298530	NHDF-neo	bronchial:	n/a	chr12:298430-298443 chr12:298428-298446
49	CTCF	chr12:298302-298499	ECC-1	luminal epithelium:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
50	CTCF	chr12:298380-298530	HCPEpiC	choroid plexus:	n/a	chr12:298430-298443 chr12:298428-298446

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:301498-301548	HRE	kidney:	n/a
2	chr12:298151-298201	U87	brain:	n/a
3	chr12:296540-296590	HCT-116	colon:	n/a
4	chr12:296609-296659	SK-N-SH_RA	brain:	n/a
5	chr12:296473-296523	Hepatocyte	liver:	n/a
6	chr12:297356-297406	GM12892	blood:	n/a
7	chr12:291668-291718	SKMC	muscle:	n/a
8	chr12:300298-300348	HL-60	blood:	n/a
9	chr12:297831-297881	Hepatocyte	liver:	n/a
10	chr12:298484-298534	AoSMC	blood vessel:	n/a
11	chr12:296540-296590	HCM	heart:	n/a
12	chr12:298378-298428	GM12878	blood:	n/a
13	chr12:291668-291718	Caco-2	colon:	n/a
14	chr12:300298-300348	NHBE	bronchial:	n/a
15	chr12:298151-298201	GM12878	blood:	n/a
16	chr12:295951-296001	K562	blood:	n/a
17	chr12:297831-297881	GM12892	blood:	n/a
18	chr12:296540-296590	PANC-1	pancreas:	n/a
19	chr12:299649-299699	HepG2	liver:	n/a
20	chr12:299649-299699	GM12878	blood:	n/a
21	chr12:295951-296001	SK-N-SH_RA	brain:	n/a
22	chr12:297356-297406	HCF	heart:	n/a
23	chr12:295951-296001	Hela-S3	cervix:	n/a
24	chr12:296473-296523	ECC-1	luminal epithelium:	n/a
25	chr12:300298-300348	LNCaP	prostate:	n/a
26	chr12:297356-297406	ECC-1	luminal epithelium:	n/a
27	chr12:297356-297406	K562	blood:	n/a
28	chr12:296609-296659	ProgFib	skin:	n/a
29	chr12:298378-298428	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:299649-299699	GM12891	blood:	n/a
31	chr12:298151-298201	MCF-7	breast:	n/a
32	chr12:299649-299699	SK-N-SH_RA	brain:	n/a
33	chr12:296609-296659	AG04449	skin:	fetal
34	chr12:298268-298318	SK-N-SH	brain:	n/a
35	chr12:301498-301548	MCF10A-Er-Src	breast:	n/a
36	chr12:298484-298534	Hepatocyte	liver:	n/a
37	chr12:297356-297406	HCT-116	colon:	n/a
38	chr12:298151-298201	NB4	blood:	n/a
39	chr12:296473-296523	K562	blood:	n/a
40	chr12:296540-296590	HUVEC	blood vessel:	n/a
41	chr12:295951-296001	ECC-1	luminal epithelium:	n/a
42	chr12:297831-297881	HCPEpiC	choroid plexus:	n/a
43	chr12:301498-301548	ProgFib	skin:	n/a
44	chr12:296609-296659	RPTEC	kidney:	n/a
45	chr12:296473-296523	HCM	heart:	n/a
46	chr12:299649-299699	AG04450	lung:	fetal
47	chr12:296540-296590	AoSMC	blood vessel:	n/a
48	chr12:298268-298318	BJ	skin:	n/a
49	chr12:301498-301548	IMR90	lung:	fetal
50	chr12:298378-298428	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:284226..286607-chr12:303579..306228,2	K562	blood:
2	chr12:297600..300406-chr12:301639..304265,3	K562	blood:
3	chr12:297965..298734-chr12:308100..308686,2	MCF-7	breast:
4	chr12:211691..214245-chr12:294558..297175,2	K562	blood:
5	chr12:277748..279992-chr12:305232..307484,2	MCF-7	breast:
6	chr12:297600..300406-chr12:301338..304265,4	K562	blood:
7	chr12:301002..302613-chr12:305489..307990,2	MCF-7	breast:
8	chr12:297943..299013-chr12:328724..329295,3	K562	blood:
9	chr12:296668..298848-chr12:310032..311975,2	K562	blood:
10	chr12:287922..289463-chr12:291196..293394,2	K562	blood:
11	chr12:284257..286850-chr12:289241..291499,2	MCF-7	breast:
12	chr12:303209..305233-chr12:388816..390804,2	K562	blood:
13	chr12:298095..299012-chr12:328485..329986,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IQSEC3-1	chr12:302202-302346	ENSG00000255671.1
2	lnc-SLC6A12-1	chr12:291234-291565	ENSG00000256540
3	lnc-SLC6A12-1	chr12:291234-291562	ENSG00000256540
4	lnc-IQSEC3-1	chr12:303127-303296	ENSG00000255671.1

Variant related genes	Relation type
ENSG00000256540	TF binding region
ENSG00000255671	TF binding region
ENSG00000256540	CpG island
ENSG00000255671	CpG island
ENSG00000256540	chromatin interactions
ENSG00000111181	chromatin interactions
ENSG00000120645	chromatin interactions
ENSG00000255671	chromatin interactions

Extended variants
information (count: 995 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:995 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571705429	chr12:288987-288988	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373858922	chr12:289005-289006	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189751553	chr12:289016-289017	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553139015	chr12:289023-289024	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548131467	chr12:289046-289047	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566344114	chr12:289054-289055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377401234	chr12:289062-289063	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552412896	chr12:289089-289090	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555191034	chr12:289096-289097	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147869549	chr12:289120-289121	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537184898	chr12:289155-289156	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141454377	chr12:289185-289186	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576449468	chr12:289213-289214	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540587463	chr12:289230-289231	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566509991	chr12:289277-289278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73038013	chr12:289341-289342	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534018274	chr12:289471-289472	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530888444	chr12:289482-289483	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181263083	chr12:289509-289510	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549209146	chr12:289511-289512	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114009689	chr12:289524-289525	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185317553	chr12:289548-289549	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7964639	chr12:289555-289556	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188118970	chr12:289561-289562	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575389973	chr12:289564-289565	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544240628	chr12:289570-289571	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532567995	chr12:289580-289581	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76937875	chr12:289589-289590	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377342749	chr12:289604-289605	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566075058	chr12:289667-289668	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116607940	chr12:289685-289686	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2307701	chr12:289719-289720	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs33919870	chr12:289720-289721	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397778688	chr12:289721-289722	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548585319	chr12:289750-289751	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556659252	chr12:289765-289766	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs16928180	chr12:289766-289767	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558244268	chr12:289768-289769	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570169754	chr12:289811-289812	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535955666	chr12:289879-289880	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7958773	chr12:289906-289907	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147019223	chr12:289907-289908	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574344389	chr12:289946-289947	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542143967	chr12:289965-289966	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556957629	chr12:289967-289968	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575418203	chr12:289998-289999	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117797526	chr12:290055-290056	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138076598	chr12:290094-290095	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7959031	chr12:290118-290119	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541526756	chr12:290119-290120	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:277200-292800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:280000-289600	Enhancers	Right Ventricle	heart
3	chr12:281000-290000	Enhancers	Left Ventricle	heart
4	chr12:281800-289000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:282800-291200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:283000-289400	Enhancers	Fetal Heart	heart
7	chr12:283400-290000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr12:283600-290000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:284200-292000	Enhancers	Right Atrium	heart
10	chr12:284200-292600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:285000-289400	Weak transcription	Fetal Lung	lung
12	chr12:285200-289400	Enhancers	Esophagus	oesophagus
13	chr12:285400-289200	Enhancers	A549	lung
14	chr12:285400-290000	Enhancers	NHDF-Ad	bronchial
15	chr12:285400-292200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:285800-289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:286200-291200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:286200-295800	Weak transcription	Liver	Liver
19	chr12:286200-298000	Weak transcription	Gastric	stomach
20	chr12:286400-289000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:286600-289400	Enhancers	Lung	lung
22	chr12:286600-290200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr12:286800-289200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:286800-290800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr12:286800-291600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:287000-289400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:287600-289000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:287600-289000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:287600-289400	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:287800-290200	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:288000-289200	Enhancers	Brain Anterior Caudate	brain
32	chr12:288000-289400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:288000-289600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:288000-289800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:288000-290200	Enhancers	Spleen	Spleen
36	chr12:288200-289000	Enhancers	Hela-S3	cervix
37	chr12:288200-290000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:288200-291800	Enhancers	Fetal Muscle Leg	muscle
39	chr12:288200-292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:288200-292800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:288400-289800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr12:288400-290000	Enhancers	Fetal Kidney	kidney
43	chr12:288400-290000	Bivalent Enhancer	HepG2	liver
44	chr12:288400-290000	Enhancers	NH-A	brain
45	chr12:288400-290200	Enhancers	Brain Hippocampus Middle	brain
46	chr12:288400-290400	Enhancers	Placenta	Placenta
47	chr12:288400-291800	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:288400-295200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:288400-297800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:288600-289600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links