Variant report

Variant	esv3331679
Chromosome Location	chr3:133291512-133294210
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	chr3:133292569-133292724	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:133291592-133292278	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:133293326-133293655	HepG2	liver:	n/a	n/a
4	ATF1	chr3:133291290-133292586	K562	blood:	n/a	n/a
5	ATF2	chr3:133293175-133293723	GM12878	blood:	n/a	n/a
6	ATF2	chr3:133293160-133294099	GM12878	blood:	n/a	n/a
7	ATF2	chr3:133291149-133292254	GM12878	blood:	n/a	n/a
8	ATF2	chr3:133290917-133292593	GM12878	blood:	n/a	n/a
9	ATF2	chr3:133291659-133292286	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr3:133293088-133293348	GM12878	blood:	n/a	n/a
11	ATF3	chr3:133293112-133293707	GM12878	blood:	n/a	chr3:133293434-133293445
12	ATF3	chr3:133293118-133293400	HepG2	liver:	n/a	n/a
13	ATF3	chr3:133293098-133293392	K562	blood:	n/a	n/a
14	ATF3	chr3:133293083-133293387	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr3:133291718-133292900	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr3:133293281-133293612	GM12878	blood:	n/a	n/a
17	BATF	chr3:133291246-133291593	GM12878	blood:	n/a	chr3:133291397-133291407
18	BATF	chr3:133291188-133292141	GM12878	blood:	n/a	chr3:133291397-133291407
19	BATF	chr3:133293198-133293700	GM12878	blood:	n/a	n/a
20	BCL11A	chr3:133293259-133293647	GM12878	blood:	n/a	n/a
21	BCL11A	chr3:133293317-133293597	GM12878	blood:	n/a	n/a
22	BCL11A	chr3:133291176-133291689	GM12878	blood:	n/a	chr3:133291421-133291429 chr3:133291396-133291405 chr3:133291503-133291512
23	BCL3	chr3:133293060-133293605	GM12878	blood:	n/a	n/a
24	BCLAF1	chr3:133292364-133293853	GM12878	blood:	n/a	chr3:133292366-133292379 chr3:133292672-133292681 chr3:133292720-133292733 chr3:133292540-133292553 chr3:133293658-133293666 chr3:133292639-133292652 chr3:133292648-133292661
25	BCLAF1	chr3:133293192-133293868	GM12878	blood:	n/a	chr3:133293658-133293666
26	BCLAF1	chr3:133291095-133292241	GM12878	blood:	n/a	chr3:133291906-133291915 chr3:133291421-133291429 chr3:133291396-133291405 chr3:133291503-133291512
27	BCLAF1	chr3:133293893-133294508	GM12878	blood:	n/a	n/a
28	BCLAF1	chr3:133291137-133292200	GM12878	blood:	n/a	chr3:133291906-133291915 chr3:133291421-133291429 chr3:133291396-133291405 chr3:133291503-133291512
29	BHLHE40	chr3:133291925-133292220	A549	lung:	n/a	n/a
30	BHLHE40	chr3:133291327-133293834	K562	blood:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644
31	BHLHE40	chr3:133292540-133292786	A549	lung:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644
32	BHLHE40	chr3:133291893-133292162	HepG2	liver:	n/a	n/a
33	BHLHE40	chr3:133291569-133293601	HepG2	liver:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644
34	BHLHE40	chr3:133291182-133293907	GM12878	blood:	n/a	chr3:133292670-133292686 chr3:133292636-133292652 chr3:133292628-133292644
35	BRCA1	chr3:133292578-133292699	GM12878	blood:	n/a	n/a
36	BRCA1	chr3:133292574-133292752	HepG2	liver:	n/a	n/a
37	BRCA1	chr3:133291829-133292903	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr3:133293625-133293854	GM12878	blood:	n/a	n/a
39	BRCA1	chr3:133293279-133293853	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr3:133291268-133292248	K562	blood:	n/a	n/a
41	CCNT2	chr3:133291928-133293606	K562	blood:	n/a	chr3:133292264-133292273
42	CEBPB	chr3:133290857-133292235	GM12878	blood:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
43	CEBPB	chr3:133291481-133292169	A549	lung:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
44	CEBPB	chr3:133291495-133292059	K562	blood:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
45	CEBPB	chr3:133291562-133292101	HepG2	liver:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
46	CEBPB	chr3:133291551-133291967	H1-hESC	embryonic stem cell:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
47	CEBPB	chr3:133291332-133292110	K562	blood:	n/a	chr3:133291668-133291681 chr3:133291668-133291681
48	CEBPB	chr3:133293224-133293808	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr3:133291393-133292718	Hela-S3	cervix:	n/a	chr3:133292335-133292343 chr3:133291668-133291681 chr3:133291668-133291681
50	CEBPB	chr3:133291321-133292258	IMR90	lung:	n/a	chr3:133291668-133291681 chr3:133291668-133291681

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133293165-133293215	LNCaP	prostate:	n/a
2	chr3:133293427-133293477	HL-60	blood:	n/a
3	chr3:133293460-133293510	NHBE	bronchial:	n/a
4	chr3:133292291-133292341	HMEC	breast:	n/a
5	chr3:133293427-133293477	HRE	kidney:	n/a
6	chr3:133293165-133293215	LNCaP	prostate:	n/a
7	chr3:133293427-133293477	HL-60	blood:	n/a
8	chr3:133293460-133293510	NHBE	bronchial:	n/a
9	chr3:133292291-133292341	HMEC	breast:	n/a
10	chr3:133293427-133293477	HRE	kidney:	n/a
11	chr3:133292323-133292373	NH-A	brain:	n/a
12	chr3:133293427-133293477	ECC-1	luminal epithelium:	n/a
13	chr3:133292323-133292373	GM06990	blood:	n/a
14	chr3:133293165-133293215	HCPEpiC	choroid plexus:	n/a
15	chr3:133292373-133292423	AG09309	skin:	n/a
16	chr3:133292376-133292426	HAEpiC	amniotic membrane:	n/a
17	chr3:133292291-133292341	HEK293	kidney:	embryo
18	chr3:133293499-133293549	BJ	skin:	n/a
19	chr3:133292376-133292426	AG04449	skin:	fetal
20	chr3:133292095-133292145	HL-60	blood:	n/a
21	chr3:133292291-133292341	HL-60	blood:	n/a
22	chr3:133292291-133292341	AG09309	skin:	n/a
23	chr3:133292540-133292590	IMR90	lung:	fetal
24	chr3:133293165-133293215	BE2_C	brain:	n/a
25	chr3:133291979-133292029	HL-60	blood:	n/a
26	chr3:133292432-133292482	HIPEpiC	eye:	n/a
27	chr3:133293153-133293203	AG04449	skin:	fetal
28	chr3:133292212-133292262	Hepatocyte	liver:	n/a
29	chr3:133293146-133293196	GM12892	blood:	n/a
30	chr3:133293460-133293510	HL-60	blood:	n/a
31	chr3:133292376-133292426	ECC-1	luminal epithelium:	n/a
32	chr3:133291979-133292029	BE2_C	brain:	n/a
33	chr3:133292376-133292426	NHBE	bronchial:	n/a
34	chr3:133291979-133292029	U87	brain:	n/a
35	chr3:133292323-133292373	AG09309	skin:	n/a
36	chr3:133292376-133292426	PFSK-1	brain:	n/a
37	chr3:133293146-133293196	GM12878	blood:	n/a
38	chr3:133292540-133292590	AoSMC	blood vessel:	n/a
39	chr3:133292899-133292949	SK-N-SH_RA	brain:	n/a
40	chr3:133293165-133293215	HEEpiC	esophagus:	n/a
41	chr3:133291979-133292029	HEEpiC	esophagus:	n/a
42	chr3:133292095-133292145	A549	lung:	n/a
43	chr3:133292291-133292341	ovcar-3	ovarian:	n/a
44	chr3:133292432-133292482	NH-A	brain:	n/a
45	chr3:133292540-133292590	GM12891	blood:	n/a
46	chr3:133293499-133293549	HNPCEpiC	eye:	n/a
47	chr3:133292540-133292590	SK-N-SH_RA	brain:	n/a
48	chr3:133292212-133292262	MCF-7	breast:	n/a
49	chr3:133293499-133293549	MCF10A-Er-Src	breast:	n/a
50	chr3:133292373-133292423	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133207094..133210649-chr3:133290648..133294454,4	MCF-7	breast:
2	chr3:133207179..133209818-chr3:133291516..133294111,3	MCF-7	breast:
3	chr3:133164640..133168534-chr3:133291750..133294077,5	MCF-7	breast:
4	chr20:57467067..57467853-chr3:133292915..133293441,2	Hela-S3	cervix:
5	chr10:71930068..71930946-chr3:133292953..133293844,2	Hela-S3	cervix:
6	chr1:144533945..144534883-chr3:133292589..133293471,2	Hela-S3	cervix:
7	chr15:65596825..65597694-chr3:133292711..133293433,2	Hela-S3	cervix:
8	chr3:132440102..132442906-chr3:133291126..133294877,5	K562	blood:
9	chr16:30006617..30007124-chr3:133292657..133293213,2	Hela-S3	cervix:
10	chr3:133287190..133289166-chr3:133290175..133292220,2	K562	blood:
11	chr21:38737416..38739692-chr3:133291408..133294289,2	MCF-7	breast:
12	chr12:123380262..123380795-chr3:133292200..133293035,2	Hela-S3	cervix:
13	chr19:47291403..47292001-chr3:133293045..133294029,2	NB4	blood:
14	chr3:133293596..133295529-chr3:133326380..133328140,2	MCF-7	breast:
15	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
16	chr3:132439752..132442432-chr3:133291591..133294160,3	K562	blood:
17	chr3:133292322..133293201-chr3:142314859..142315610,2	HCT-116	colon:

Variant related genes	Relation type
CDV3	TF binding region
CDV3	CpG island
ENSG00000113971	chromatin interactions
ENSG00000273210	chromatin interactions
ENSG00000120756	chromatin interactions
ENSG00000163781	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000214301	chromatin interactions
ENSG00000149929	chromatin interactions
ENSG00000248724	chromatin interactions
ENSG00000170819	chromatin interactions
ENSG00000157540	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000087460	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000249993	chromatin interactions
ENSG00000169592	chromatin interactions
ENSG00000079332	chromatin interactions
ENSG00000105281	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139136118	chr3:133291520-133291521	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs552554756	chr3:133291582-133291583	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs569783481	chr3:133291605-133291606	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs187120527	chr3:133291614-133291615	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs191156687	chr3:133291615-133291616	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs10049041	chr3:133291621-133291622	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375184636	chr3:133291675-133291676	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs149542433	chr3:133291757-133291758	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs537100487	chr3:133291773-133291774	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs557144114	chr3:133291815-133291816	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs577064591	chr3:133291816-133291817	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs543349244	chr3:133291817-133291818	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs369986359	chr3:133291946-133291947	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs116498908	chr3:133291979-133291980	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs553416650	chr3:133291990-133291991	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs573467062	chr3:133292018-133292019	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs529287930	chr3:133292022-133292023	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs182708950	chr3:133292087-133292088	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs35017405	chr3:133292102-133292103	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184882531	chr3:133292107-133292108	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs189739384	chr3:133292121-133292122	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs74950272	chr3:133292131-133292132	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs532379036	chr3:133292133-133292134	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs552386946	chr3:133292134-133292135	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs113022187	chr3:133292135-133292136	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs373484711	chr3:133292136-133292137	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs565854719	chr3:133292139-133292140	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs116092700	chr3:133292180-133292181	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs74796361	chr3:133292182-133292183	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs549735511	chr3:133292263-133292264	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs183107326	chr3:133292276-133292277	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs71317412	chr3:133292280-133292281	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370300187	chr3:133292302-133292303	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs539677486	chr3:133292308-133292309	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs553496974	chr3:133292321-133292322	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs188856134	chr3:133292374-133292375	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs542459749	chr3:133292376-133292377	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs71317413	chr3:133292385-133292386	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574523950	chr3:133292400-133292401	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs71317414	chr3:133292432-133292433	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373449225	chr3:133292443-133292444	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs563408959	chr3:133292462-133292463	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs200294568	chr3:133292465-133292466	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs576980932	chr3:133292471-133292472	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs545704350	chr3:133292482-133292483	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs559452916	chr3:133292535-133292536	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs111722096	chr3:133292539-133292540	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs529595638	chr3:133292541-133292542	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs548505487	chr3:133292588-133292589	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs370687204	chr3:133292610-133292611	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133285000-133291600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:133286600-133291800	Enhancers	HMEC	breast
3	chr3:133286800-133291600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:133287000-133291800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:133287000-133291800	Enhancers	HSMMtube	muscle
6	chr3:133287400-133291600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:133287800-133291600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:133288000-133291600	Enhancers	Osteobl	bone
9	chr3:133288000-133292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:133289200-133291600	Enhancers	HUVEC	blood vessel
11	chr3:133289400-133291600	Weak transcription	Right Atrium	heart
12	chr3:133289400-133292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:133289600-133291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:133289600-133291600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:133289600-133291600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:133289600-133291600	Weak transcription	Fetal Intestine Large	intestine
17	chr3:133289600-133291600	Weak transcription	Psoas Muscle	Psoas
18	chr3:133289600-133292400	Weak transcription	Esophagus	oesophagus
19	chr3:133289600-133292400	Weak transcription	Lung	lung
20	chr3:133289800-133291800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:133289800-133292400	Weak transcription	Small Intestine	intestine
22	chr3:133289800-133293200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:133290000-133291600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:133290000-133291800	Weak transcription	Aorta	Aorta
25	chr3:133290000-133291800	Weak transcription	Left Ventricle	heart
26	chr3:133290200-133291600	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:133290600-133291800	Enhancers	Placenta	Placenta
28	chr3:133290800-133291600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr3:133290800-133291600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:133290800-133291600	Enhancers	Colon Smooth Muscle	Colon
31	chr3:133290800-133291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:133290800-133291800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:133290800-133291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:133290800-133292000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr3:133290800-133292000	Flanking Active TSS	GM12878-XiMat	blood
36	chr3:133290800-133292000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr3:133290800-133292200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr3:133291000-133291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:133291000-133291600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr3:133291000-133291800	Enhancers	Fetal Muscle Leg	muscle
41	chr3:133291000-133291800	Enhancers	HSMM	muscle
42	chr3:133291000-133292000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr3:133291000-133292000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr3:133291000-133292000	Enhancers	Spleen	Spleen
45	chr3:133291000-133292200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr3:133291000-133292200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr3:133291000-133292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:133291000-133292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:133291200-133291600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:133291200-133291600	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links