Variant report

Variant	esv1792524
Chromosome Location	chr4:128983925-129133826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1141)
CpG islands
(count:244)
Chromatin interactive
region (count:87)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:1141 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:128986727-128987315	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:129084458-129085161	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:129112483-129112801	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:129098805-129099057	K562	blood:	n/a	n/a
5	ARID3A	chr4:128984105-128984249	HepG2	liver:	n/a	n/a
6	BACH1	chr4:129098733-129099075	K562	blood:	n/a	n/a
7	BACH1	chr4:129030245-129030354	K562	blood:	n/a	n/a
8	BATF	chr4:129002785-129003040	GM12878	blood:	n/a	n/a
9	BATF	chr4:129002767-129002976	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:129002656-129003047	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:129002813-129003003	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:129112464-129112770	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:129098787-129099019	K562	blood:	n/a	n/a
14	BHLHE40	chr4:129002753-129003064	HepG2	liver:	n/a	n/a
15	BHLHE40	chr4:128984053-128984320	K562	blood:	n/a	n/a
16	BHLHE40	chr4:129112527-129112782	K562	blood:	n/a	n/a
17	BRCA1	chr4:129112535-129112730	HepG2	liver:	n/a	n/a
18	BRCA1	chr4:129084431-129085059	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr4:129084532-129085071	HCT-116	colon:	n/a	n/a
20	CBX3	chr4:129107766-129108091	K562	blood:	n/a	n/a
21	CCNT2	chr4:129098665-129099098	K562	blood:	n/a	n/a
22	CCNT2	chr4:129052310-129052425	K562	blood:	n/a	n/a
23	CEBPB	chr4:129068517-129068594	IMR90	lung:	n/a	n/a
24	CEBPB	chr4:129107602-129107729	K562	blood:	n/a	chr4:129107657-129107668
25	CEBPB	chr4:129084391-129084992	A549	lung:	n/a	n/a
26	CEBPB	chr4:129080307-129080395	IMR90	lung:	n/a	n/a
27	CEBPB	chr4:128987322-128987482	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr4:129067048-129067093	A549	lung:	n/a	n/a
29	CEBPB	chr4:129057324-129057492	K562	blood:	n/a	chr4:129057398-129057409
30	CEBPB	chr4:129013231-129013263	K562	blood:	n/a	chr4:129013249-129013260 chr4:129013247-129013260 chr4:129013247-129013260
31	CEBPB	chr4:128987002-128987347	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr4:129071770-129071965	K562	blood:	n/a	n/a
33	CEBPB	chr4:129057322-129057522	IMR90	lung:	n/a	chr4:129057398-129057409
34	CEBPB	chr4:129107528-129107766	IMR90	lung:	n/a	chr4:129107657-129107668
35	CEBPB	chr4:129057254-129057543	H1-hESC	embryonic stem cell:	n/a	chr4:129057398-129057409
36	CEBPB	chr4:129084638-129084835	A549	lung:	n/a	n/a
37	CEBPB	chr4:129081094-129081535	IMR90	lung:	n/a	n/a
38	CEBPB	chr4:129084444-129085036	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:129057391-129057438	Hela-S3	cervix:	n/a	chr4:129057398-129057409
40	CEBPB	chr4:128986915-128987537	HepG2	liver:	n/a	n/a
41	CEBPB	chr4:129057332-129057490	HepG2	liver:	n/a	chr4:129057398-129057409
42	CEBPB	chr4:128994448-128994569	K562	blood:	n/a	n/a
43	CEBPB	chr4:129084339-129085122	HCT-116	colon:	n/a	n/a
44	CEBPB	chr4:129084655-129084828	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:129057349-129057476	A549	lung:	n/a	chr4:129057398-129057409
46	CEBPB	chr4:129057258-129057473	HepG2	liver:	n/a	chr4:129057398-129057409
47	CEBPB	chr4:129084459-129084882	IMR90	lung:	n/a	n/a
48	CEBPB	chr4:128986958-128987539	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:129057262-129057469	K562	blood:	n/a	chr4:129057398-129057409
50	CEBPB	chr4:129057335-129057495	MCF-7	breast:	n/a	chr4:129057398-129057409

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:129131976-129132026	H1-hESC	embryonic stem cell:	embryo
2	chr4:129131976-129132026	NH-A	brain:	n/a
3	chr4:129076599-129076649	GM06990	blood:	n/a
4	chr4:129112470-129112520	HUVEC	blood vessel:	n/a
5	chr4:129076599-129076649	HRPEpiC	eye:	n/a
6	chr4:128987117-128987167	GM12892	blood:	n/a
7	chr4:129112470-129112520	HRE	kidney:	n/a
8	chr4:128987117-128987167	MCF10A-Er-Src	breast:	n/a
9	chr4:129076599-129076649	MCF10A-Er-Src	breast:	n/a
10	chr4:129076599-129076649	HepG2	liver:	n/a
11	chr4:129131976-129132026	GM12878	blood:	n/a
12	chr4:129131976-129132026	Jurkat	blood:	n/a
13	chr4:129131976-129132026	HAEpiC	amniotic membrane:	n/a
14	chr4:129131976-129132026	GM06990	blood:	n/a
15	chr4:129131976-129132026	SAEC	small airway:	n/a
16	chr4:129131976-129132026	HIPEpiC	eye:	n/a
17	chr4:128987117-128987167	SAEC	small airway:	n/a
18	chr4:129112470-129112520	HNPCEpiC	eye:	n/a
19	chr4:128987117-128987167	AoSMC	blood vessel:	n/a
20	chr4:129112470-129112520	HAEpiC	amniotic membrane:	n/a
21	chr4:129112470-129112520	RPTEC	kidney:	n/a
22	chr4:128987117-128987167	SK-N-SH	brain:	n/a
23	chr4:129112470-129112520	H1-hESC	embryonic stem cell:	embryo
24	chr4:128987117-128987167	GM19239	blood:	n/a
25	chr4:129112470-129112520	HMEC	breast:	n/a
26	chr4:129112470-129112520	K562	blood:	n/a
27	chr4:129112470-129112520	Hela-S3	cervix:	n/a
28	chr4:129112470-129112520	NH-A	brain:	n/a
29	chr4:129112470-129112520	AG04450	lung:	fetal
30	chr4:129131976-129132026	HRE	kidney:	n/a
31	chr4:129131976-129132026	SK-N-SH_RA	brain:	n/a
32	chr4:129076599-129076649	K562	blood:	n/a
33	chr4:129076599-129076649	GM12892	blood:	n/a
34	chr4:129112470-129112520	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:129131976-129132026	HCM	heart:	n/a
36	chr4:128987117-128987167	BE2_C	brain:	n/a
37	chr4:128987117-128987167	SK-N-SH_RA	brain:	n/a
38	chr4:129076599-129076649	AG04450	lung:	fetal
39	chr4:129131976-129132026	HL-60	blood:	n/a
40	chr4:129131976-129132026	HUVEC	blood vessel:	n/a
41	chr4:128987117-128987167	K562	blood:	n/a
42	chr4:129112470-129112520	SK-N-SH	brain:	n/a
43	chr4:129131976-129132026	HepG2	liver:	n/a
44	chr4:128987117-128987167	ECC-1	luminal epithelium:	n/a
45	chr4:129076599-129076649	HNPCEpiC	eye:	n/a
46	chr4:128987117-128987167	HL-60	blood:	n/a
47	chr4:129112470-129112520	CMK	blood:	n/a
48	chr4:129131976-129132026	IMR90	lung:	fetal
49	chr4:128987117-128987167	HEK293	kidney:	embryo
50	chr4:129112470-129112520	Jurkat	blood:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:129029150..129031424-chr4:129033425..129035573,2	K562	blood:
2	chr4:128986963..128988724-chr4:129006823..129009589,2	K562	blood:
3	chr4:129108565..129110094-chr4:129111279..129113337,2	K562	blood:
4	chr4:128986963..128988724-chr4:129006823..129009589,2	K562	blood:
5	chr4:129045158..129047932-chr4:129051472..129053160,2	MCF-7	breast:
6	chr4:128986963..128989911-chr4:129006823..129010664,3	K562	blood:
7	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
8	chr20:60454588..60456953-chr4:129063296..129065957,2	MCF-7	breast:
9	chr4:129112187..129113136-chr4:129348664..129349586,3	K562	blood:
10	chr4:128981841..128983896-chr4:128992107..128993678,2	K562	blood:
11	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
12	chr4:128981555..128983671-chr4:128994020..128995938,2	MCF-7	breast:
13	chr4:129059429..129061785-chr4:129065852..129068353,2	MCF-7	breast:
14	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
15	chr4:128981366..128983425-chr4:129010610..129012544,2	MCF-7	breast:
16	chr4:129035426..129037558-chr4:129040093..129043006,2	MCF-7	breast:
17	chr4:129046898..129050196-chr4:129053286..129057187,3	K562	blood:
18	chr4:129110973..129112779-chr4:129731922..129733599,2	MCF-7	breast:
19	chr4:128593863..128595593-chr4:128981619..128984198,2	K562	blood:
20	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
21	chr4:128884631..128886796-chr4:128984225..128985783,2	K562	blood:
22	chr4:129025304..129027006-chr4:129029170..129031192,2	K562	blood:
23	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
24	chr4:129112411..129113106-chr4:129375161..129375743,2	K562	blood:
25	chr4:129059429..129061785-chr4:129065852..129068353,2	MCF-7	breast:
26	chr4:129063027..129065017-chr4:129070103..129072354,2	K562	blood:
27	chr4:129050739..129052523-chr4:129056742..129059138,2	K562	blood:
28	chr4:129035426..129037558-chr4:129040093..129043006,2	MCF-7	breast:
29	chr4:129060417..129062554-chr4:129207496..129209246,2	MCF-7	breast:
30	chr4:129080384..129082582-chr4:129090226..129091968,2	K562	blood:
31	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
32	chr4:128982346..128983856-chr4:129003590..129006434,2	MCF-7	breast:
33	chr4:128981757..128984747-chr4:128992107..128995122,3	K562	blood:
34	chr4:129018289..129019947-chr4:129023111..129025286,2	K562	blood:
35	chr4:129045158..129047932-chr4:129051472..129053160,2	MCF-7	breast:
36	chr4:129110821..129114298-chr4:129729453..129732586,3	K562	blood:
37	chr4:128993593..128995625-chr4:128998288..128999815,2	K562	blood:
38	chr4:128980817..128984026-chr4:129207052..129210590,3	MCF-7	breast:
39	chr4:129046898..129050196-chr4:129053286..129057187,3	K562	blood:
40	chr4:129011599..129013507-chr4:129029164..129031397,2	K562	blood:
41	chr4:129112549..129113205-chr4:129348868..129349638,2	MCF-7	breast:
42	chr4:129035080..129036906-chr4:129038349..129040371,2	K562	blood:
43	chr4:129112511..129113107-chr4:129784791..129785303,2	K562	blood:
44	chr4:128988872..128991603-chr4:128995675..128998391,2	K562	blood:
45	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:
46	chr4:128989561..128991603-chr4:128996891..128999505,2	K562	blood:
47	chr4:129018289..129019947-chr4:129023111..129025286,2	K562	blood:
48	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
49	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
50	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LARP1B	hsa-miR-192-5p	chr4:129121805-129121820
2	LARP1B	hsa-miR-215-5p	chr4:129128411-129128415
3	LARP1B	hsa-miR-192-5p	chr4:129029971-129029991
4	LARP1B	hsa-miR-215-5p	chr4:129029971-129029991
5	LARP1B	hsa-miR-215-5p	chr4:129121805-129121820
6	LARP1B	hsa-miR-192-5p	chr4:129128411-129128415

Variant related genes	Relation type
FOSL1P1	TF binding region
ENSG00000241651	TF binding region
LARP1B	TF binding region
FOSL1P1	CpG island
ENSG00000241651	CpG island
LARP1B	CpG island
ENSG00000164070	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000251432	chromatin interactions
ENSG00000138709	chromatin interactions
ENSG00000241651	chromatin interactions
ENSG00000142731	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000164066	chromatin interactions
ENSG00000164074	chromatin interactions
ENSG00000164073	chromatin interactions

Extended variants
information (count: 5254 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5254 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4834225	chr4:128983925-128983926	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186981183	chr4:128983942-128983943	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs560153493	chr4:128983961-128983962	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs34749547	chr4:128983976-128983977	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs369433753	chr4:128984019-128984020	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs551937990	chr4:128984078-128984079	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs528507895	chr4:128984098-128984099	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs570634454	chr4:128984162-128984163	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs192260172	chr4:128984214-128984215	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs549561187	chr4:128984219-128984220	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs568041439	chr4:128984238-128984239	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs576629966	chr4:128984286-128984287	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs545482938	chr4:128984288-128984289	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs535347703	chr4:128984314-128984315	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs111576538	chr4:128984353-128984354	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs546642859	chr4:128984376-128984377	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs572553553	chr4:128984449-128984450	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs7692797	chr4:128984476-128984477	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561611136	chr4:128984554-128984555	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs145450114	chr4:128984555-128984556	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs75109028	chr4:128984556-128984557	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs398072294	chr4:128984564-128984565	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs72495189	chr4:128984582-128984583	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs34178862	chr4:128984609-128984610	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs376285227	chr4:128984663-128984664	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs529685365	chr4:128984689-128984690	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs577260812	chr4:128984706-128984707	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs544529072	chr4:128984709-128984710	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs556777132	chr4:128984716-128984717	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs370154655	chr4:128984750-128984751	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs542509993	chr4:128984768-128984769	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs560190975	chr4:128984795-128984796	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs562912807	chr4:128984803-128984804	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs532088984	chr4:128984885-128984886	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs545773489	chr4:128984940-128984941	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs77295997	chr4:128984943-128984944	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs564072836	chr4:128984990-128984991	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs531413411	chr4:128984999-128985000	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs182267649	chr4:128985004-128985005	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs140603011	chr4:128985070-128985071	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs187502985	chr4:128985095-128985096	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs112694261	chr4:128985104-128985105	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs6534659	chr4:128985152-128985153	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs35366167	chr4:128985154-128985155	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs547243249	chr4:128985190-128985191	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs367652351	chr4:128985217-128985218	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs112628071	chr4:128985229-128985230	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs533980346	chr4:128985247-128985248	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs113301224	chr4:128985310-128985311	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs570886856	chr4:128985352-128985353	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:2468 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128981000-128984400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:128981000-128984400	Active TSS	Duodenum Mucosa	Duodenum
3	chr4:128981000-128984400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:128981000-128984400	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:128981200-128984000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:128981200-128984000	Active TSS	NHEK	skin
7	chr4:128981200-128984200	Active TSS	Brain Angular Gyrus	brain
8	chr4:128981200-128984200	Active TSS	Fetal Intestine Large	intestine
9	chr4:128981200-128984200	Active TSS	GM12878-XiMat	blood
10	chr4:128981200-128984400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:128981200-128984400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:128981200-128984400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:128981200-128984400	Active TSS	Fetal Intestine Small	intestine
14	chr4:128981200-128984400	Active TSS	Fetal Kidney	kidney
15	chr4:128981200-128984400	Active TSS	Fetal Stomach	stomach
16	chr4:128981200-128984400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr4:128981400-128984000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:128981400-128984000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:128981400-128984000	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:128981400-128984000	Active TSS	Colonic Mucosa	Colon
21	chr4:128981400-128984000	Active TSS	Left Ventricle	heart
22	chr4:128981400-128984000	Active TSS	Ovary	ovary
23	chr4:128981400-128984200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:128981400-128984200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr4:128981400-128984200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:128981400-128984200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:128981400-128984200	Active TSS	Fetal Brain Female	brain
28	chr4:128981400-128984200	Active TSS	Lung	lung
29	chr4:128981400-128984200	Active TSS	Right Atrium	heart
30	chr4:128981400-128984200	Active TSS	Right Ventricle	heart
31	chr4:128981400-128984200	Active TSS	NHDF-Ad	bronchial
32	chr4:128981400-128984200	Active TSS	NHLF	lung
33	chr4:128981400-128984400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr4:128981400-128984400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:128981400-128984400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:128981400-128984400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr4:128981400-128984600	Active TSS	Pancreas	Pancrea
38	chr4:128981400-128984600	Active TSS	HepG2	liver
39	chr4:128981400-128984600	Active TSS	HSMM	muscle
40	chr4:128981600-128984000	Active TSS	HMEC	breast
41	chr4:128981600-128984200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:128981600-128984200	Active TSS	Placenta	Placenta
43	chr4:128981600-128984200	Active TSS	A549	lung
44	chr4:128981600-128984200	Active TSS	K562	blood
45	chr4:128981600-128984400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr4:128981600-128984400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:128981800-128984000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:128981800-128984200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:128981800-128984200	Active TSS	Hela-S3	cervix
50	chr4:128981800-128984400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links