Variant report

Variant	nsv882756
Chromosome Location	chr5:116783660-116905052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:722)
CpG islands
(count:61)
Chromatin interactive
region (count:42)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr5:116797148-116797414	GM12878	blood:	n/a	n/a
2	BCLAF1	chr5:116790375-116790729	GM12878	blood:	n/a	n/a
3	BHLHE40	chr5:116790947-116790972	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:116791321-116791551	HepG2	liver:	n/a	n/a
5	BHLHE40	chr5:116790388-116790722	K562	blood:	n/a	n/a
6	BHLHE40	chr5:116790303-116790723	GM12878	blood:	n/a	n/a
7	BRCA1	chr5:116790545-116790805	GM12878	blood:	n/a	n/a
8	BRCA1	chr5:116856056-116856088	GM12878	blood:	n/a	n/a
9	CBX3	chr5:116791123-116791737	HCT-116	colon:	n/a	n/a
10	CBX3	chr5:116790271-116791689	HCT-116	colon:	n/a	n/a
11	CEBPB	chr5:116811647-116812136	HepG2	liver:	n/a	chr5:116811668-116811677 chr5:116811995-116812006 chr5:116811668-116811677
12	CEBPB	chr5:116788115-116788261	H1-hESC	embryonic stem cell:	n/a	chr5:116788184-116788195
13	CEBPB	chr5:116886592-116886854	HepG2	liver:	n/a	chr5:116886697-116886708
14	CEBPB	chr5:116788048-116788418	HepG2	liver:	n/a	chr5:116788184-116788195
15	CEBPB	chr5:116791406-116791561	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr5:116887453-116887759	A549	lung:	n/a	chr5:116887586-116887597 chr5:116887586-116887599 chr5:116887588-116887599
17	CEBPB	chr5:116842245-116842510	HepG2	liver:	n/a	chr5:116842395-116842406
18	CEBPB	chr5:116887535-116887675	Hela-S3	cervix:	n/a	chr5:116887586-116887597 chr5:116887586-116887599 chr5:116887588-116887599
19	CEBPB	chr5:116822543-116823232	MCF-7	breast:	n/a	n/a
20	CEBPB	chr5:116791327-116791928	MCF-7	breast:	n/a	n/a
21	CEBPB	chr5:116790470-116791049	MCF-7	breast:	n/a	n/a
22	CEBPB	chr5:116887456-116887780	IMR90	lung:	n/a	chr5:116887586-116887597 chr5:116887586-116887599 chr5:116887588-116887599
23	CEBPB	chr5:116788146-116788417	A549	lung:	n/a	chr5:116788184-116788195
24	CEBPB	chr5:116822580-116823219	MCF-7	breast:	n/a	n/a
25	CEBPB	chr5:116831000-116831180	H1-hESC	embryonic stem cell:	n/a	chr5:116831122-116831133
26	CEBPB	chr5:116887445-116887734	HepG2	liver:	n/a	chr5:116887586-116887597 chr5:116887586-116887599 chr5:116887588-116887599
27	CTCF	chr5:116790892-116790926	GM10266	blood:	n/a	n/a
28	CTCF	chr5:116790500-116790650	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr5:116790422-116790715	K562	blood:	n/a	n/a
30	CTCF	chr5:116791380-116791530	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr5:116790427-116790906	GM19240	blood:	n/a	n/a
32	CTCF	chr5:116790451-116790699	ProgFib	skin:	n/a	n/a
33	CTCF	chr5:116790520-116790670	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr5:116791120-116791270	GM12873	blood:	n/a	n/a
35	CTCF	chr5:116790480-116790630	HL-60	blood:	n/a	n/a
36	CTCF	chr5:116791453-116791534	GM10248	blood:	n/a	n/a
37	CTCF	chr5:116790420-116790732	T-47D	breast:	n/a	n/a
38	CTCF	chr5:116790480-116790630	GM12871	blood:	n/a	n/a
39	CTCF	chr5:116790500-116790650	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr5:116791399-116791553	GM13977	blood:	n/a	n/a
41	CTCF	chr5:116790500-116790650	AG04449	skin:	n/a	n/a
42	CTCF	chr5:116791400-116791550	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:116791400-116791550	GM12865	blood:	n/a	n/a
44	CTCF	chr5:116791126-116791185	ProgFib	skin:	n/a	n/a
45	CTCF	chr5:116830327-116830423	GM12878	blood:	n/a	chr5:116830340-116830361 chr5:116830345-116830363
46	CTCF	chr5:116791339-116791604	HepG2	liver:	n/a	n/a
47	CTCF	chr5:116790480-116790630	GM12872	blood:	n/a	n/a
48	CTCF	chr5:116791763-116791853	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:116790778-116790888	GM12878	blood:	n/a	n/a
50	CTCF	chr5:116830280-116830430	HBMEC	blood vessel:	n/a	chr5:116830340-116830361 chr5:116830345-116830363

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:116791458-116791508	LNCaP	prostate:	n/a
2	chr5:116791458-116791508	SK-N-MC	brain:	n/a
3	chr5:116791458-116791508	SK-N-SH_RA	brain:	n/a
4	chr5:116791458-116791508	U87	brain:	n/a
5	chr5:116791458-116791508	ProgFib	skin:	n/a
6	chr5:116791458-116791508	HCPEpiC	choroid plexus:	n/a
7	chr5:116791458-116791508	HAEpiC	amniotic membrane:	n/a
8	chr5:116791458-116791508	H1-hESC	embryonic stem cell:	embryo
9	chr5:116791458-116791508	SK-N-SH	brain:	n/a
10	chr5:116791458-116791508	GM12891	blood:	n/a
11	chr5:116791458-116791508	HEEpiC	esophagus:	n/a
12	chr5:116791458-116791508	K562	blood:	n/a
13	chr5:116791458-116791508	PANC-1	pancreas:	n/a
14	chr5:116791458-116791508	AoSMC	blood vessel:	n/a
15	chr5:116791458-116791508	HNPCEpiC	eye:	n/a
16	chr5:116791458-116791508	ovcar-3	ovarian:	n/a
17	chr5:116791458-116791508	HCT-116	colon:	n/a
18	chr5:116791458-116791508	HMEC	breast:	n/a
19	chr5:116791458-116791508	Jurkat	blood:	n/a
20	chr5:116791458-116791508	PFSK-1	brain:	n/a
21	chr5:116791458-116791508	NHBE	bronchial:	n/a
22	chr5:116791458-116791508	Hela-S3	cervix:	n/a
23	chr5:116791458-116791508	HL-60	blood:	n/a
24	chr5:116791458-116791508	HIPEpiC	eye:	n/a
25	chr5:116791458-116791508	GM12878	blood:	n/a
26	chr5:116791458-116791508	HCM	heart:	n/a
27	chr5:116791458-116791508	HRPEpiC	eye:	n/a
28	chr5:116791458-116791508	AG10803	skin:	n/a
29	chr5:116791458-116791508	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:116791458-116791508	MCF-7	breast:	n/a
31	chr5:116791458-116791508	HUVEC	blood vessel:	n/a
32	chr5:116791458-116791508	NT2-D1	testis:	n/a
33	chr5:116791458-116791508	CMK	blood:	n/a
34	chr5:116791458-116791508	GM06990	blood:	n/a
35	chr5:116791458-116791508	GM19239	blood:	n/a
36	chr5:116791458-116791508	T-47D	breast:	n/a
37	chr5:116791458-116791508	AG04450	lung:	fetal
38	chr5:116791458-116791508	NHDF-neo	bronchial:	n/a
39	chr5:116791458-116791508	IMR90	lung:	fetal
40	chr5:116791458-116791508	HEK293	kidney:	embryo
41	chr5:116791458-116791508	AG09319	gingival:	n/a
42	chr5:116791458-116791508	HepG2	liver:	n/a
43	chr5:116791458-116791508	SAEC	small airway:	n/a
44	chr5:116791458-116791508	NH-A	brain:	n/a
45	chr5:116791458-116791508	HCF	heart:	n/a
46	chr5:116791458-116791508	PrEC	prostate:	n/a
47	chr5:116791458-116791508	HRCEpiC	kidney:	n/a
48	chr5:116791458-116791508	BE2_C	brain:	n/a
49	chr5:116791458-116791508	GM12892	blood:	n/a
50	chr5:116791458-116791508	NB4	blood:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:37031752..37032567-chr5:116783092..116783789,2	MCF-7	breast:
2	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:
3	chr5:116798578..116800970-chr5:116815011..116816649,2	MCF-7	breast:
4	chr5:116822600..116823429-chr5:117474971..117475497,2	MCF-7	breast:
5	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
6	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:
7	chr5:116786894..116789181-chr5:116791351..116793871,2	MCF-7	breast:
8	chr5:116790570..116793760-chr5:116804733..116807566,3	MCF-7	breast:
9	chr5:116822579..116823522-chr5:117345341..117346279,5	MCF-7	breast:
10	chr5:116884300..116886423-chr5:116888475..116890420,2	K562	blood:
11	chr5:116822477..116823522-chr5:117345341..117346321,14	MCF-7	breast:
12	chr5:116800476..116802026-chr5:116807043..116809847,2	MCF-7	breast:
13	chr5:116782325..116784739-chr5:116786139..116787789,2	K562	blood:
14	chr5:116798602..116800963-chr5:116821842..116823358,2	MCF-7	breast:
15	chr5:116821234..116823544-chr5:116829349..116832247,2	MCF-7	breast:
16	chr5:116791221..116793114-chr5:116823128..116825426,2	MCF-7	breast:
17	chr5:116654194..116654786-chr5:116790174..116790911,2	MCF-7	breast:
18	chr5:116791346..116791870-chr5:116830163..116830664,2	MCF-7	breast:
19	chr5:116790139..116793042-chr5:116793265..116796225,7	MCF-7	breast:
20	chr5:116693270..116694072-chr5:116822684..116823457,3	MCF-7	breast:
21	chr5:115908857..115911525-chr5:116791047..116792677,2	MCF-7	breast:
22	chr5:116782325..116784739-chr5:116786139..116787789,2	K562	blood:
23	chr5:116808790..116811030-chr5:116812517..116814152,2	MCF-7	breast:
24	chr5:116791346..116791870-chr5:116830163..116830664,2	MCF-7	breast:
25	chr5:116801751..116804534-chr5:116842472..116845368,2	K562	blood:
26	chr5:116789826..116792355-chr5:116793817..116797383,4	MCF-7	breast:
27	chr5:116798602..116800963-chr5:116821842..116823358,2	MCF-7	breast:
28	chr5:116818267..116820596-chr5:116820773..116823516,3	MCF-7	breast:
29	chr5:116811651..116813275-chr5:116817751..116820499,2	MCF-7	breast:
30	chr5:116798578..116800970-chr5:116815011..116816649,2	MCF-7	breast:
31	chr5:116790543..116792543-chr5:116819780..116821685,2	MCF-7	breast:
32	chr5:116822706..116823238-chr5:118110990..118112031,3	MCF-7	breast:
33	chr5:116800476..116802026-chr5:116807043..116809847,2	MCF-7	breast:
34	chr5:116822796..116823373-chr5:117345646..117346259,4	MCF-7	breast:
35	chr5:116693270..116694072-chr5:116822684..116823457,2	MCF-7	breast:
36	chr5:116808790..116811030-chr5:116812517..116814152,2	MCF-7	breast:
37	chr5:116786894..116789181-chr5:116791351..116793871,2	MCF-7	breast:
38	chr5:116801751..116804534-chr5:116842472..116845368,2	K562	blood:
39	chr5:116818267..116820596-chr5:116820773..116823516,3	MCF-7	breast:
40	chr5:116791221..116793114-chr5:116823128..116825426,2	MCF-7	breast:
41	chr5:116821234..116823544-chr5:116829349..116832247,2	MCF-7	breast:
42	chr5:116811651..116813275-chr5:116817751..116820499,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-12	chr5:116835496-116835532	l_3001_chr5:116779094-116842761_testes
2	lnc-COMMD10-12	chr5:116871207-116871314	l_3001_chr5:116779094-116842761_testes
3	lnc-COMMD10-5	chr5:116790959-116791150	ENSG00000248663
4	lnc-COMMD10-12	chr5:116818544-116819049	l_3001_chr5:116779094-116842761_testes
5	lnc-COMMD10-5	chr5:116807597-116807633	ENSG00000248663
6	lnc-COMMD10-5	chr5:116807597-116807633	NONHSAT103387
7	lnc-COMMD10-5	chr5:116881794-116881891	NONHSAT103387
8	lnc-COMMD10-5	chr5:116891341-116891475	NONHSAT103387
9	lnc-COMMD10-5	chr5:116881794-116881993	ENSG00000248663
10	lnc-COMMD10-12	chr5:116858885-116859204	l_3001_chr5:116779094-116842761_testes
11	lnc-COMMD10-12	chr5:116842575-116842798	l_3001_chr5:116779094-116842761_testes
12	lnc-COMMD10-5	chr5:116814676-116815063	ENSG00000248663
13	lnc-COMMD10-12	chr5:116842809-116842913	l_3001_chr5:116779094-116842761_testes
14	lnc-COMMD10-5	chr5:116807597-116807633	ENSG00000248663

No data

Variant related genes	Relation type
LINC00992	TF binding region
LINC00992	CpG island
ENSG00000249167	chromatin interactions
ENSG00000248663	chromatin interactions
ENSG00000092421	chromatin interactions

Extended variants
information (count: 2327 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2327 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557985690	chr5:116788074-116788075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs182084515	chr5:116788121-116788122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540416649	chr5:116788139-116788140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560224705	chr5:116788140-116788141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528959371	chr5:116788193-116788194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542629699	chr5:116788198-116788199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74499373	chr5:116788201-116788202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs151242787	chr5:116788204-116788205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs141899549	chr5:116788214-116788215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147112826	chr5:116788264-116788265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571599072	chr5:116788285-116788286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs527915156	chr5:116788311-116788312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547657378	chr5:116788313-116788314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567772907	chr5:116788340-116788341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2560521	chr5:116788350-116788351	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142493111	chr5:116788385-116788386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150118270	chr5:116788423-116788424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536788649	chr5:116788437-116788438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs17141806	chr5:116788442-116788443	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138427588	chr5:116788455-116788456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550330944	chr5:116789541-116789542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs368094886	chr5:116789564-116789565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190480274	chr5:116789609-116789610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375800416	chr5:116789630-116789631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139924476	chr5:116789648-116789649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77813458	chr5:116790252-116790253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs78308744	chr5:116790255-116790256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs75664158	chr5:116790257-116790258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs77325506	chr5:116790258-116790259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558134291	chr5:116790263-116790264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs78058391	chr5:116790265-116790266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs80081551	chr5:116790274-116790275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376335424	chr5:116790292-116790293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368842823	chr5:116790338-116790339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541010768	chr5:116790339-116790340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561456556	chr5:116790356-116790357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575051935	chr5:116790364-116790365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191576027	chr5:116790429-116790430	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs78548981	chr5:116790470-116790471	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532661881	chr5:116790471-116790472	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150647479	chr5:116790518-116790519	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139806839	chr5:116790523-116790524	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs111907700	chr5:116790535-116790536	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs181619090	chr5:116790539-116790540	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs530425809	chr5:116790638-116790639	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567471192	chr5:116790653-116790654	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529967983	chr5:116790671-116790672	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549577461	chr5:116790672-116790673	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs187235637	chr5:116790683-116790684	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538445371	chr5:116790715-116790716	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116790400-116790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:116790400-116790600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:116790400-116790600	Active TSS	Primary hematopoietic stem cells	blood
4	chr5:116790400-116790600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:116790400-116790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:116790400-116790600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:116790400-116790600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:116790400-116790600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:116790400-116790600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:116790400-116790600	Enhancers	Esophagus	oesophagus
11	chr5:116790400-116790600	Enhancers	Placenta	Placenta
12	chr5:116790400-116790600	Enhancers	HepG2	liver
13	chr5:116790400-116790800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:116790400-116790800	Active TSS	Brain Substantia Nigra	brain
15	chr5:116790400-116791000	Enhancers	Ovary	ovary
16	chr5:116790400-116791200	Active TSS	Fetal Kidney	kidney
17	chr5:116790400-116791600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:116790400-116791800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:116790400-116792000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:116790600-116790800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:116790600-116790800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr5:116790600-116790800	Enhancers	Lung	lung
23	chr5:116790600-116790800	Weak transcription	Right Atrium	heart
24	chr5:116790600-116790800	Active TSS	GM12878-XiMat	blood
25	chr5:116790600-116791000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr5:116790600-116791000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:116790600-116791000	Active TSS	Primary B cells from cord blood	blood
28	chr5:116790600-116791000	Active TSS	Primary T cells from cord blood	blood
29	chr5:116790600-116791000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:116790600-116791000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr5:116790600-116791000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:116790600-116791000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr5:116790600-116791000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:116790600-116791000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr5:116790600-116791000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr5:116790600-116791000	Flanking Active TSS	Esophagus	oesophagus
37	chr5:116790600-116791000	Active TSS	Fetal Heart	heart
38	chr5:116790600-116791000	Active TSS	Fetal Lung	lung
39	chr5:116790600-116791000	Active TSS	Pancreas	Pancrea
40	chr5:116790600-116791000	Active TSS	Stomach Smooth Muscle	stomach
41	chr5:116790600-116791000	Active TSS	Spleen	Spleen
42	chr5:116790600-116791000	Flanking Active TSS	HepG2	liver
43	chr5:116790600-116791200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:116790600-116791200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr5:116790600-116791200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:116790600-116791200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:116790600-116791200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:116790600-116791200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:116790600-116791200	Active TSS	Brain Angular Gyrus	brain
50	chr5:116790600-116791200	Active TSS	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links