Variant report

Variant	nsv461638
Chromosome Location	chr4:129774375-129927804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1302)
CpG islands
(count:427)
Chromatin interactive
region (count:74)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:1302 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:129879403-129879765	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:129866424-129866624	K562	blood:	n/a	n/a
3	ATF2	chr4:129787441-129787873	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:129780996-129781553	GM12878	blood:	n/a	n/a
5	ATF2	chr4:129834221-129834957	GM12878	blood:	n/a	n/a
6	ATF2	chr4:129834181-129834816	GM12878	blood:	n/a	n/a
7	ATF2	chr4:129837715-129838462	GM12878	blood:	n/a	n/a
8	ATF2	chr4:129838788-129839413	GM12878	blood:	n/a	n/a
9	ATF2	chr4:129786523-129786934	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:129784142-129785043	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr4:129783230-129784319	GM12878	blood:	n/a	n/a
12	ATF2	chr4:129788328-129788944	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr4:129792908-129793330	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr4:129837905-129838481	GM12878	blood:	n/a	n/a
15	ATF2	chr4:129784543-129785016	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:129780849-129781956	GM12878	blood:	n/a	n/a
17	ATF2	chr4:129838782-129839408	GM12878	blood:	n/a	n/a
18	BACH1	chr4:129787497-129787679	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:129797317-129797325	K562	blood:	n/a	n/a
20	BACH1	chr4:129902627-129902712	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:129901252-129901452	K562	blood:	n/a	n/a
22	BATF	chr4:129837910-129838268	GM12878	blood:	n/a	n/a
23	BATF	chr4:129838911-129839317	GM12878	blood:	n/a	n/a
24	BATF	chr4:129780951-129781563	GM12878	blood:	n/a	n/a
25	BATF	chr4:129827779-129828010	GM12878	blood:	n/a	chr4:129827877-129827888
26	BATF	chr4:129783709-129784080	GM12878	blood:	n/a	n/a
27	BATF	chr4:129838922-129839343	GM12878	blood:	n/a	n/a
28	BCL11A	chr4:129838977-129839324	GM12878	blood:	n/a	n/a
29	BCL11A	chr4:129839033-129839295	GM12878	blood:	n/a	n/a
30	BCL3	chr4:129834324-129834632	GM12878	blood:	n/a	n/a
31	BCL3	chr4:129780325-129780841	GM12878	blood:	n/a	n/a
32	BCL3	chr4:129838908-129839307	GM12878	blood:	n/a	n/a
33	BCL3	chr4:129783711-129784235	GM12878	blood:	n/a	n/a
34	BCL3	chr4:129781008-129781514	GM12878	blood:	n/a	chr4:129781133-129781142
35	BCL3	chr4:129834252-129834735	GM12878	blood:	n/a	n/a
36	BCL3	chr4:129779078-129779384	GM12878	blood:	n/a	n/a
37	BCL3	chr4:129780204-129780967	GM12878	blood:	n/a	chr4:129780293-129780302
38	BCLAF1	chr4:129838854-129839425	GM12878	blood:	n/a	n/a
39	BCLAF1	chr4:129837821-129838334	GM12878	blood:	n/a	n/a
40	BCLAF1	chr4:129838883-129839358	GM12878	blood:	n/a	n/a
41	BCLAF1	chr4:129781125-129781552	GM12878	blood:	n/a	chr4:129781133-129781142
42	BCLAF1	chr4:129775571-129775990	GM12878	blood:	n/a	n/a
43	BCLAF1	chr4:129837719-129838296	GM12878	blood:	n/a	n/a
44	BHLHE40	chr4:129783863-129784093	GM12878	blood:	n/a	n/a
45	BHLHE40	chr4:129784557-129784867	HepG2	liver:	n/a	n/a
46	BHLHE40	chr4:129838002-129838412	GM12878	blood:	n/a	n/a
47	BHLHE40	chr4:129838803-129839362	GM12878	blood:	n/a	n/a
48	BRCA1	chr4:129784634-129784936	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr4:129846236-129846257	GM12878	blood:	n/a	n/a
50	BRCA1	chr4:129784704-129784802	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:129793434-129793484	HAEpiC	amniotic membrane:	n/a
2	chr4:129783057-129783107	HRPEpiC	eye:	n/a
3	chr4:129793434-129793484	NHBE	bronchial:	n/a
4	chr4:129785576-129785626	NHDF-neo	bronchial:	n/a
5	chr4:129784819-129784869	MCF-7	breast:	n/a
6	chr4:129805520-129805570	HRCEpiC	kidney:	n/a
7	chr4:129784819-129784869	SK-N-SH_RA	brain:	n/a
8	chr4:129781682-129781732	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:129781682-129781732	AoSMC	blood vessel:	n/a
10	chr4:129784819-129784869	HCF	heart:	n/a
11	chr4:129805520-129805570	CMK	blood:	n/a
12	chr4:129775059-129775109	GM19239	blood:	n/a
13	chr4:129781682-129781732	HNPCEpiC	eye:	n/a
14	chr4:129775059-129775109	HMEC	breast:	n/a
15	chr4:129784819-129784869	H1-hESC	embryonic stem cell:	embryo
16	chr4:129781682-129781732	AG09319	gingival:	n/a
17	chr4:129805520-129805570	HUVEC	blood vessel:	n/a
18	chr4:129775059-129775109	NH-A	brain:	n/a
19	chr4:129805520-129805570	PANC-1	pancreas:	n/a
20	chr4:129805520-129805570	HCM	heart:	n/a
21	chr4:129785576-129785626	HL-60	blood:	n/a
22	chr4:129784819-129784869	HMEC	breast:	n/a
23	chr4:129805520-129805570	HL-60	blood:	n/a
24	chr4:129775059-129775109	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:129805520-129805570	BE2_C	brain:	n/a
26	chr4:129781682-129781732	SKMC	muscle:	n/a
27	chr4:129775059-129775109	A549	lung:	n/a
28	chr4:129785576-129785626	GM06990	blood:	n/a
29	chr4:129805520-129805570	ECC-1	luminal epithelium:	n/a
30	chr4:129775059-129775109	HUVEC	blood vessel:	n/a
31	chr4:129781682-129781732	HRE	kidney:	n/a
32	chr4:129805520-129805570	RPTEC	kidney:	n/a
33	chr4:129785576-129785626	AG04450	lung:	fetal
34	chr4:129783057-129783107	NB4	blood:	n/a
35	chr4:129785576-129785626	PrEC	prostate:	n/a
36	chr4:129781682-129781732	HCF	heart:	n/a
37	chr4:129781682-129781732	BE2_C	brain:	n/a
38	chr4:129793434-129793484	AG04449	skin:	fetal
39	chr4:129781682-129781732	HRCEpiC	kidney:	n/a
40	chr4:129784819-129784869	GM12878	blood:	n/a
41	chr4:129793434-129793484	Caco-2	colon:	n/a
42	chr4:129785576-129785626	NT2-D1	testis:	n/a
43	chr4:129784819-129784869	GM06990	blood:	n/a
44	chr4:129805520-129805570	A549	lung:	n/a
45	chr4:129775059-129775109	LNCaP	prostate:	n/a
46	chr4:129783057-129783107	HEK293	kidney:	embryo
47	chr4:129785576-129785626	NH-A	brain:	n/a
48	chr4:129784819-129784869	MCF10A-Er-Src	breast:	n/a
49	chr4:129783057-129783107	HCF	heart:	n/a
50	chr4:129793434-129793484	HCM	heart:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:129798920..129801366-chr4:129805840..129808673,2	K562	blood:
2	chr4:129893731..129895681-chr4:129897472..129899242,2	K562	blood:
3	chr4:129483813..129486118-chr4:129786642..129788490,2	MCF-7	breast:
4	chr4:129759776..129761947-chr4:129777321..129779431,2	K562	blood:
5	chr4:129729755..129733795-chr4:129783264..129786218,5	MCF-7	breast:
6	chr4:129885302..129888048-chr4:129911143..129913987,2	K562	blood:
7	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:
8	chr4:129902026..129904676-chr4:129907660..129909341,2	K562	blood:
9	chr4:129731707..129733254-chr4:129789500..129791100,2	MCF-7	breast:
10	chr4:129730756..129732301-chr4:129776228..129778833,2	K562	blood:
11	chr4:129798920..129801366-chr4:129805840..129808673,2	K562	blood:
12	chr4:129729198..129732287-chr4:129784290..129787717,5	K562	blood:
13	chr4:129784722..129788908-chr4:129789150..129792648,4	K562	blood:
14	chr4:129766486..129769711-chr4:129773177..129777072,3	K562	blood:
15	chr4:129730556..129734953-chr4:129772085..129776071,5	K562	blood:
16	chr4:129886935..129889219-chr4:130012773..130015050,2	K562	blood:
17	chr4:129830344..129833253-chr4:129837741..129840090,2	K562	blood:
18	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:
19	chr4:129919094..129920682-chr4:129924284..129926675,2	K562	blood:
20	chr4:129893731..129895681-chr4:129897472..129899242,2	K562	blood:
21	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:
22	chr4:129896690..129899278-chr4:129899361..129901444,2	MCF-7	breast:
23	chr4:129774305..129776412-chr4:129777976..129779919,2	K562	blood:
24	chr4:129810865..129812723-chr4:129812841..129815400,2	K562	blood:
25	chr4:129881359..129883041-chr4:129899761..129902463,2	K562	blood:
26	chr4:129896690..129899278-chr4:129899361..129901444,2	MCF-7	breast:
27	chr4:129774305..129776412-chr4:129777976..129779919,2	K562	blood:
28	chr4:129731505..129733452-chr4:129799174..129801929,2	MCF-7	breast:
29	chr4:129900386..129903021-chr4:129908411..129910284,2	MCF-7	breast:
30	chr4:129486483..129487185-chr4:129784609..129785425,2	MCF-7	breast:
31	chr4:129772388..129774921-chr4:129778989..129781160,2	MCF-7	breast:
32	chr4:129731039..129733137-chr4:129832126..129834778,3	K562	blood:
33	chr4:129834245..129836614-chr4:129838172..129840499,2	K562	blood:
34	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
35	chr4:129495601..129496471-chr4:129784448..129785345,3	K562	blood:
36	chr4:129486871..129489829-chr4:129782805..129785623,2	K562	blood:
37	chr4:129883398..129885861-chr4:129887383..129889705,3	K562	blood:
38	chr4:129495559..129496404-chr4:129784372..129785130,3	MCF-7	breast:
39	chr4:129834048..129836614-chr4:129837936..129840499,3	K562	blood:
40	chr4:129792576..129794412-chr4:129795148..129798091,2	MCF-7	breast:
41	chr4:129810865..129812723-chr4:129812841..129815400,2	K562	blood:
42	chr4:129830344..129833253-chr4:129837741..129840090,2	K562	blood:
43	chr4:129348761..129349614-chr4:129784409..129785296,3	MCF-7	breast:
44	chr4:129784722..129788908-chr4:129789150..129792648,4	K562	blood:
45	chr4:129725702..129726480-chr4:129789353..129790148,2	MCF-7	breast:
46	chr4:129787325..129790041-chr4:129799398..129801047,2	K562	blood:
47	chr4:129919094..129920682-chr4:129924284..129926675,2	K562	blood:
48	chr4:129375124..129376026-chr4:129784426..129785119,2	MCF-7	breast:
49	chr4:129802100..129804907-chr4:129805391..129807043,2	K562	blood:
50	chr4:129883398..129885861-chr4:129887383..129889506,2	K562	blood:

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PHF17	hsa-miR-124-3p	chr4:129796332-129796338
2	PHF17	hsa-miR-124-3p	chr4:129796320-129796339
3	PHF17	hsa-miR-155-5p	chr4:129794674-129794681
4	PHF17	hsa-miR-155-5p	chr4:129794659-129794681
5	PHF17	hsa-miR-145-5p	chr4:129784570-129784593
6	PHF17	hsa-miR-124-3p	chr4:129795549-129795568
7	PHF17	hsa-miR-124-3p	chr4:129795562-129795568
8	PHF17	hsa-miR-21-5p	chr4:129794503-129794525
9	PHF17	hsa-miR-145-5p	chr4:129784899-129784923

Variant related genes	Relation type
SCLT1	TF binding region
SCLT1	CpG island
ENSG00000151466	chromatin interactions
ENSG00000151470	chromatin interactions
ENSG00000251432	chromatin interactions
ENSG00000077684	chromatin interactions

Extended variants
information (count: 5425 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5425 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6847753	chr4:129774375-129774376	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555599290	chr4:129774383-129774384	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533545355	chr4:129774396-129774397	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552039965	chr4:129774442-129774443	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569762063	chr4:129774582-129774583	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372151765	chr4:129774608-129774609	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75454328	chr4:129774818-129774819	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567114011	chr4:129774819-129774820	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372711372	chr4:129774860-129774861	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs17013821	chr4:129774954-129774955	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552970427	chr4:129775057-129775058	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566889510	chr4:129775060-129775061	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538436862	chr4:129775202-129775203	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556784731	chr4:129775237-129775238	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575100419	chr4:129775255-129775256	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543510980	chr4:129775257-129775258	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575456245	chr4:129775258-129775259	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73850013	chr4:129775267-129775268	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573926453	chr4:129775303-129775304	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181717067	chr4:129775345-129775346	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544543959	chr4:129775347-129775348	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559782100	chr4:129775348-129775349	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62317923	chr4:129775350-129775351	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs144783916	chr4:129775358-129775359	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563830596	chr4:129775389-129775390	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531140711	chr4:129775410-129775411	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35109281	chr4:129775530-129775531	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138626049	chr4:129775552-129775553	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567383051	chr4:129775586-129775587	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369476591	chr4:129775611-129775612	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9307610	chr4:129775612-129775613	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs185880782	chr4:129775640-129775641	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571204403	chr4:129775715-129775716	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532600289	chr4:129775720-129775721	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538499972	chr4:129775761-129775762	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149329253	chr4:129775763-129775764	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372314920	chr4:129775792-129775793	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1809274	chr4:129775874-129775875	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190736266	chr4:129775878-129775879	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568677391	chr4:129775973-129775974	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs17303098	chr4:129776015-129776016	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183337131	chr4:129776024-129776025	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148712727	chr4:129776053-129776054	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534702152	chr4:129776064-129776065	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566241400	chr4:129776087-129776088	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76476236	chr4:129776095-129776096	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79527434	chr4:129776102-129776103	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143043870	chr4:129776146-129776147	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368821825	chr4:129776217-129776218	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559908020	chr4:129776218-129776219	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 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
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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2253 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
5	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
6	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
7	chr4:129761800-129775000	Strong transcription	GM12878-XiMat	blood
8	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr4:129762200-129775000	Strong transcription	Fetal Thymus	thymus
10	chr4:129762400-129775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:129762400-129775000	Strong transcription	HSMM	muscle
12	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr4:129762600-129775000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:129763000-129774600	Strong transcription	Primary T cells from cord blood	blood
17	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:129763400-129774800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:129763600-129774600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:129763600-129774800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr4:129763600-129774800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:129763600-129774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
31	chr4:129763800-129774400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:129763800-129775000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:129763800-129775200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr4:129763800-129776400	Strong transcription	Hela-S3	cervix
35	chr4:129763800-129776600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr4:129763800-129780400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:129763800-129780400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr4:129763800-129783400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
41	chr4:129764000-129774800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:129764000-129775400	Strong transcription	HUVEC	blood vessel
43	chr4:129764000-129784000	Strong transcription	Fetal Brain Female	brain
44	chr4:129764200-129775000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:129764800-129779600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:129765000-129775200	Strong transcription	Spleen	Spleen
47	chr4:129765400-129775200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:129766400-129775200	Strong transcription	Esophagus	oesophagus
49	chr4:129766600-129775000	Strong transcription	NHLF	lung
50	chr4:129766600-129780200	Strong transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links