Variant report

Variant	nsv877507
Chromosome Location	chr3:133465201-133473516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:296)
CpG islands
(count:305)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:133464807-133465468	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:133467108-133467550	K562	blood:	n/a	n/a
3	ARID3A	chr3:133472676-133472963	K562	blood:	n/a	n/a
4	ATF1	chr3:133467119-133467558	K562	blood:	n/a	n/a
5	ATF1	chr3:133472642-133473076	K562	blood:	n/a	n/a
6	ATF3	chr3:133467179-133467556	K562	blood:	n/a	n/a
7	BHLHE40	chr3:133464839-133465445	HepG2	liver:	n/a	chr3:133464970-133464986
8	BHLHE40	chr3:133466914-133467429	K562	blood:	n/a	n/a
9	BHLHE40	chr3:133472653-133473034	K562	blood:	n/a	n/a
10	BHLHE40	chr3:133469254-133469257	K562	blood:	n/a	n/a
11	BRCA1	chr3:133464767-133465456	HepG2	liver:	n/a	n/a
12	BRCA1	chr3:133466981-133467181	HepG2	liver:	n/a	n/a
13	CBX3	chr3:133466958-133467494	K562	blood:	n/a	n/a
14	CCNT2	chr3:133472591-133473097	K562	blood:	n/a	n/a
15	CCNT2	chr3:133466772-133467467	K562	blood:	n/a	n/a
16	CEBPB	chr3:133464882-133465431	HepG2	liver:	n/a	chr3:133465137-133465148
17	CEBPB	chr3:133465092-133465231	K562	blood:	n/a	chr3:133465137-133465148
18	CEBPB	chr3:133464848-133465379	HepG2	liver:	n/a	chr3:133465137-133465148
19	CEBPB	chr3:133472723-133473019	K562	blood:	n/a	n/a
20	CEBPB	chr3:133467052-133467601	K562	blood:	n/a	chr3:133467407-133467418
21	CEBPB	chr3:133464912-133465460	HepG2	liver:	n/a	chr3:133465137-133465148
22	CEBPB	chr3:133467316-133467487	K562	blood:	n/a	chr3:133467407-133467418
23	CEBPB	chr3:133467083-133467603	K562	blood:	n/a	chr3:133467407-133467418
24	CEBPB	chr3:133472625-133472986	K562	blood:	n/a	n/a
25	CEBPB	chr3:133464975-133465358	HepG2	liver:	n/a	chr3:133465137-133465148
26	CEBPB	chr3:133465062-133465206	A549	lung:	n/a	chr3:133465137-133465148
27	CEBPB	chr3:133467227-133467581	HepG2	liver:	n/a	chr3:133467407-133467418
28	CEBPD	chr3:133464927-133465376	HepG2	liver:	n/a	n/a
29	CEBPD	chr3:133472520-133473111	K562	blood:	n/a	n/a
30	CEBPD	chr3:133467119-133467540	K562	blood:	n/a	n/a
31	CEBPD	chr3:133466991-133467608	K562	blood:	n/a	n/a
32	CEBPD	chr3:133472523-133473079	K562	blood:	n/a	n/a
33	CEBPD	chr3:133464897-133465890	HepG2	liver:	n/a	n/a
34	CHD2	chr3:133467187-133467345	HepG2	liver:	n/a	n/a
35	CHD2	chr3:133464874-133465454	HepG2	liver:	n/a	n/a
36	CTCF	chr3:133466980-133467130	HepG2	liver:	n/a	n/a
37	CTCF	chr3:133466960-133467110	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr3:133472940-133473090	K562	blood:	n/a	n/a
39	CTCF	chr3:133466940-133467090	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr3:133466900-133467050	K562	blood:	n/a	n/a
41	CTCF	chr3:133466952-133467106	HepG2	liver:	n/a	n/a
42	CTCF	chr3:133467060-133467210	K562	blood:	n/a	n/a
43	CTCF	chr3:133466948-133467103	K562	blood:	n/a	n/a
44	CTCF	chr3:133472644-133473110	K562	blood:	n/a	n/a
45	CTCF	chr3:133465100-133465250	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr3:133466833-133467142	K562	blood:	n/a	n/a
47	CTCF	chr3:133472860-133473010	HepG2	liver:	n/a	n/a
48	CTCF	chr3:133466920-133467070	HepG2	liver:	n/a	n/a
49	CTCF	chr3:133472860-133473010	NHEK	skin:	n/a	n/a
50	CTCF	chr3:133466974-133467060	H1-hESC	embryonic stem cell:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133465180-133465230	NHDF-neo	bronchial:	n/a
2	chr3:133467435-133467485	H1-hESC	embryonic stem cell:	embryo
3	chr3:133467435-133467485	HAEpiC	amniotic membrane:	n/a
4	chr3:133467435-133467485	MCF-7	breast:	n/a
5	chr3:133465469-133465519	PrEC	prostate:	n/a
6	chr3:133467435-133467485	HCPEpiC	choroid plexus:	n/a
7	chr3:133465180-133465230	SK-N-SH_RA	brain:	n/a
8	chr3:133465180-133465230	HCT-116	colon:	n/a
9	chr3:133465469-133465519	HUVEC	blood vessel:	n/a
10	chr3:133467304-133467354	HAEpiC	amniotic membrane:	n/a
11	chr3:133465469-133465519	MCF10A-Er-Src	breast:	n/a
12	chr3:133467304-133467354	NB4	blood:	n/a
13	chr3:133465360-133465410	NH-A	brain:	n/a
14	chr3:133465180-133465230	NT2-D1	testis:	n/a
15	chr3:133465180-133465230	SK-N-MC	brain:	n/a
16	chr3:133467435-133467485	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:133465180-133465230	SAEC	small airway:	n/a
18	chr3:133467435-133467485	PANC-1	pancreas:	n/a
19	chr3:133465180-133465230	NB4	blood:	n/a
20	chr3:133465469-133465519	HepG2	liver:	n/a
21	chr3:133467435-133467485	GM12891	blood:	n/a
22	chr3:133467435-133467485	CMK	blood:	n/a
23	chr3:133467435-133467485	A549	lung:	n/a
24	chr3:133467435-133467485	T-47D	breast:	n/a
25	chr3:133467304-133467354	HMEC	breast:	n/a
26	chr3:133465469-133465519	Hepatocyte	liver:	n/a
27	chr3:133465360-133465410	CMK	blood:	n/a
28	chr3:133467435-133467485	NT2-D1	testis:	n/a
29	chr3:133467435-133467485	SK-N-SH	brain:	n/a
30	chr3:133465469-133465519	NT2-D1	testis:	n/a
31	chr3:133465360-133465410	GM12878	blood:	n/a
32	chr3:133465360-133465410	MCF10A-Er-Src	breast:	n/a
33	chr3:133465469-133465519	HEK293	kidney:	embryo
34	chr3:133465360-133465410	PFSK-1	brain:	n/a
35	chr3:133467304-133467354	NHDF-neo	bronchial:	n/a
36	chr3:133465360-133465410	ovcar-3	ovarian:	n/a
37	chr3:133467304-133467354	Jurkat	blood:	n/a
38	chr3:133467304-133467354	HIPEpiC	eye:	n/a
39	chr3:133467435-133467485	HRE	kidney:	n/a
40	chr3:133465180-133465230	BJ	skin:	n/a
41	chr3:133467304-133467354	NT2-D1	testis:	n/a
42	chr3:133467304-133467354	IMR90	lung:	fetal
43	chr3:133465469-133465519	ECC-1	luminal epithelium:	n/a
44	chr3:133467435-133467485	U87	brain:	n/a
45	chr3:133465469-133465519	A549	lung:	n/a
46	chr3:133465360-133465410	NT2-D1	testis:	n/a
47	chr3:133465469-133465519	Jurkat	blood:	n/a
48	chr3:133467435-133467485	HL-60	blood:	n/a
49	chr3:133465180-133465230	GM12878	blood:	n/a
50	chr3:133465360-133465410	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:133465852..133469783-chr3:133471795..133476120,4	K562	blood:
2	chr3:133472488..133475139-chr3:133486239..133489016,2	K562	blood:
3	chr3:133300041..133302235-chr3:133472033..133474036,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPRB-4	chr3:133472439-133472924	NONHSAT092200
2	lnc-SRPRB-4	chr3:133465237-133465327	NONHSAT092200

No data

Variant related genes	Relation type
TF	TF binding region
TF	CpG island
ENSG00000091513	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8177186	chr3:133465201-133465202	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs41298275	chr3:133465220-133465221	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs1130459	chr3:133465283-133465284	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs542693510	chr3:133465300-133465301	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs368521553	chr3:133465335-133465336	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs562524022	chr3:133465342-133465343	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs8177187	chr3:133465353-133465354	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551471875	chr3:133465357-133465358	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571365201	chr3:133465363-133465364	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs41272325	chr3:133465377-133465378	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs41298277	chr3:133465393-133465394	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375658755	chr3:133465457-133465458	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181316484	chr3:133465524-133465525	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551452497	chr3:133465561-133465562	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs536935734	chr3:133465590-133465591	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548730335	chr3:133465612-133465613	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4459901	chr3:133465699-133465700	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537801461	chr3:133465705-133465706	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372484256	chr3:133465725-133465726	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557890076	chr3:133465768-133465769	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35144031	chr3:133465782-133465783	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs577810764	chr3:133465798-133465799	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533789091	chr3:133465825-133465826	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs41298279	chr3:133465835-133465836	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370808794	chr3:133466078-133466079	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553918951	chr3:133466094-133466095	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573882798	chr3:133466101-133466102	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs140021964	chr3:133466121-133466122	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542932478	chr3:133466126-133466127	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs41298281	chr3:133466133-133466134	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs1800277	chr3:133466155-133466156	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544953262	chr3:133466170-133466171	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs6796795	chr3:133466222-133466223	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs8177317	chr3:133466255-133466256	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547708560	chr3:133466267-133466268	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561509438	chr3:133466307-133466308	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4428180	chr3:133466374-133466375	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs550459663	chr3:133466447-133466448	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs6785596	chr3:133466457-133466458	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537888275	chr3:133466460-133466461	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs35241991	chr3:133466506-133466507	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs115845336	chr3:133466532-133466533	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs41298283	chr3:133466552-133466553	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533866195	chr3:133466579-133466580	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12493168	chr3:133466588-133466589	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs573792662	chr3:133466592-133466593	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs536017332	chr3:133466634-133466635	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs543672815	chr3:133466661-133466662	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs150230250	chr3:133466682-133466683	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545040517	chr3:133466693-133466694	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133464400-133465800	Enhancers	Pancreas	Pancrea
2	chr3:133464400-133466400	Weak transcription	K562	blood
3	chr3:133464600-133465400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:133464600-133465600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:133464600-133465600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr3:133464600-133465800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:133464800-133465400	Active TSS	Fetal Brain Female	brain
8	chr3:133464800-133465400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr3:133464800-133465400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr3:133464800-133465400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
11	chr3:133464800-133465600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:133464800-133465600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:133464800-133465600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:133464800-133465600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr3:133464800-133465600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:133464800-133465600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:133464800-133465600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:133464800-133465600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:133464800-133465600	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr3:133464800-133465600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
21	chr3:133464800-133465600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr3:133464800-133466000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr3:133464800-133467000	Active TSS	Brain Anterior Caudate	brain
24	chr3:133464800-133467000	Active TSS	Brain Substantia Nigra	brain
25	chr3:133464800-133467000	Bivalent/Poised TSS	HepG2	liver
26	chr3:133464800-133467200	Active TSS	Brain Hippocampus Middle	brain
27	chr3:133464800-133468200	Active TSS	Brain Cingulate Gyrus	brain
28	chr3:133464800-133468400	Active TSS	Brain Angular Gyrus	brain
29	chr3:133465000-133465400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:133465000-133465400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:133465000-133465400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:133465000-133465400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:133465000-133465400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr3:133465000-133465400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr3:133465000-133465400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:133465000-133465400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr3:133465000-133465400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
38	chr3:133465000-133465400	ZNF genes & repeats	Lung	lung
39	chr3:133465000-133465400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr3:133465000-133465400	Flanking Bivalent TSS/Enh	HMEC	breast
41	chr3:133465000-133465600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr3:133465000-133465600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:133465000-133465600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:133465000-133465600	Bivalent Enhancer	Placenta	Placenta
45	chr3:133465000-133465600	Enhancers	Gastric	stomach
46	chr3:133465000-133465600	Active TSS	Right Atrium	heart
47	chr3:133465000-133466000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:133465000-133468200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:133465000-133468400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr3:133465200-133465400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links