Variant report

Variant	esv3338026
Chromosome Location	chr16:73089651-73094249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:656)
CpG islands
(count:611)
Chromatin interactive
region (count:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:73087215-73090250	HepG2	liver:	n/a	chr16:73088864-73088880
2	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:73090636-73091153	HepG2	liver:	n/a	n/a
4	BACH1	chr16:73091594-73091724	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr16:73089380-73090159	A549	lung:	n/a	n/a
6	BHLHE40	chr16:73091019-73091030	HepG2	liver:	n/a	n/a
7	BHLHE40	chr16:73089253-73090123	HepG2	liver:	n/a	n/a
8	BHLHE40	chr16:73092959-73093195	A549	lung:	n/a	n/a
9	BHLHE40	chr16:73092227-73092436	GM12878	blood:	n/a	chr16:73092375-73092391 chr16:73092380-73092396
10	BRCA1	chr16:73086734-73090278	Hela-S3	cervix:	n/a	chr16:73089202-73089209
11	BRCA1	chr16:73092944-73093333	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr16:73091490-73091661	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr16:73089494-73090297	IMR90	lung:	n/a	n/a
14	CEBPB	chr16:73089729-73090385	A549	lung:	n/a	n/a
15	CEBPB	chr16:73088499-73090319	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr16:73089686-73090243	HepG2	liver:	n/a	n/a
17	CEBPB	chr16:73089704-73090186	HepG2	liver:	n/a	n/a
18	CEBPB	chr16:73089246-73090249	HepG2	liver:	n/a	n/a
19	CEBPB	chr16:73089898-73090191	HepG2	liver:	n/a	n/a
20	CEBPB	chr16:73089919-73090269	A549	lung:	n/a	n/a
21	CEBPD	chr16:73089518-73089976	HepG2	liver:	n/a	n/a
22	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
23	CHD2	chr16:73091365-73091797	Hela-S3	cervix:	n/a	chr16:73091379-73091389 chr16:73091670-73091680
24	CHD2	chr16:73087046-73090226	Hela-S3	cervix:	n/a	chr16:73087450-73087460 chr16:73087960-73087970
25	CHD2	chr16:73092171-73092475	Hela-S3	cervix:	n/a	chr16:73092358-73092368
26	CHD2	chr16:73089771-73090077	HepG2	liver:	n/a	n/a
27	CREB1	chr16:73089446-73089829	A549	lung:	n/a	n/a
28	CREB1	chr16:73092132-73092481	A549	lung:	n/a	n/a
29	CTBP2	chr16:73092781-73093160	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTBP2	chr16:73091406-73091888	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr16:73091500-73091650	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr16:73091500-73091650	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr16:73091463-73091697	HepG2	liver:	n/a	n/a
34	CTCF	chr16:73091540-73091690	MCF-7	breast:	n/a	n/a
35	CTCF	chr16:73091597-73091718	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr16:73091540-73091690	HRE	kidney:	n/a	n/a
37	CTCF	chr16:73091500-73091650	HMF	breast:	n/a	n/a
38	CTCF	chr16:73091440-73091590	GM12869	blood:	n/a	n/a
39	CTCF	chr16:73092280-73092430	GM12866	blood:	n/a	chr16:73092285-73092298
40	CTCF	chr16:73092203-73092298	Pancreas_OC	pancreas:	n/a	chr16:73092285-73092298
41	CTCF	chr16:73091601-73091625	GM20000	blood:	n/a	n/a
42	CTCF	chr16:73093000-73093150	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr16:73091567-73091711	GM19239	blood:	n/a	n/a
44	CTCF	chr16:73092260-73092410	GM12874	blood:	n/a	chr16:73092285-73092298
45	CTCF	chr16:73091540-73091690	GM12866	blood:	n/a	n/a
46	CTCF	chr16:73091500-73091650	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr16:73091581-73091616	NHEK	skin:	n/a	n/a
48	CTCF	chr16:73091420-73091570	GM06990	blood:	n/a	n/a
49	CTCF	chr16:73091540-73091690	NHEK	skin:	n/a	n/a
50	CTCF	chr16:73091520-73091670	HBMEC	blood vessel:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:73090646-73090696	HAEpiC	amniotic membrane:	n/a
2	chr16:73090646-73090696	HAEpiC	amniotic membrane:	n/a
3	chr16:73093309-73093359	HRE	kidney:	n/a
4	chr16:73092391-73092441	RPTEC	kidney:	n/a
5	chr16:73092391-73092441	GM12892	blood:	n/a
6	chr16:73090723-73090773	GM19239	blood:	n/a
7	chr16:73090838-73090888	ProgFib	skin:	n/a
8	chr16:73091917-73091967	GM06990	blood:	n/a
9	chr16:73090646-73090696	NB4	blood:	n/a
10	chr16:73092823-73092873	H1-hESC	embryonic stem cell:	embryo
11	chr16:73092391-73092441	HNPCEpiC	eye:	n/a
12	chr16:73093296-73093346	Hepatocyte	liver:	n/a
13	chr16:73093309-73093359	Jurkat	blood:	n/a
14	chr16:73091917-73091967	IMR90	lung:	fetal
15	chr16:73090646-73090696	GM06990	blood:	n/a
16	chr16:73090838-73090888	Hepatocyte	liver:	n/a
17	chr16:73091565-73091615	HPAEpiC	pulmonary alveolar:	n/a
18	chr16:73090723-73090773	T-47D	breast:	n/a
19	chr16:73090838-73090888	HCPEpiC	choroid plexus:	n/a
20	chr16:73092394-73092444	A549	lung:	n/a
21	chr16:73093309-73093359	SAEC	small airway:	n/a
22	chr16:73092394-73092444	HCM	heart:	n/a
23	chr16:73093309-73093359	HepG2	liver:	n/a
24	chr16:73090838-73090888	BE2_C	brain:	n/a
25	chr16:73091917-73091967	HCF	heart:	n/a
26	chr16:73091917-73091967	HepG2	liver:	n/a
27	chr16:73093309-73093359	SKMC	muscle:	n/a
28	chr16:73091917-73091967	ProgFib	skin:	n/a
29	chr16:73092823-73092873	PrEC	prostate:	n/a
30	chr16:73093296-73093346	GM12891	blood:	n/a
31	chr16:73091565-73091615	MCF-7	breast:	n/a
32	chr16:73092823-73092873	ECC-1	luminal epithelium:	n/a
33	chr16:73092391-73092441	GM06990	blood:	n/a
34	chr16:73093309-73093359	HPAEpiC	pulmonary alveolar:	n/a
35	chr16:73092391-73092441	HRCEpiC	kidney:	n/a
36	chr16:73092394-73092444	SAEC	small airway:	n/a
37	chr16:73092394-73092444	Jurkat	blood:	n/a
38	chr16:73092391-73092441	IMR90	lung:	fetal
39	chr16:73090646-73090696	Jurkat	blood:	n/a
40	chr16:73092391-73092441	A549	lung:	n/a
41	chr16:73092391-73092441	NB4	blood:	n/a
42	chr16:73092823-73092873	HRE	kidney:	n/a
43	chr16:73091917-73091967	A549	lung:	n/a
44	chr16:73090646-73090696	AG10803	skin:	n/a
45	chr16:73093309-73093359	MCF10A-Er-Src	breast:	n/a
46	chr16:73091917-73091967	PANC-1	pancreas:	n/a
47	chr16:73093296-73093346	NT2-D1	testis:	n/a
48	chr16:73093296-73093346	IMR90	lung:	fetal
49	chr16:73090838-73090888	ovcar-3	ovarian:	n/a
50	chr16:73091565-73091615	MCF10A-Er-Src	breast:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
2	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
3	chr16:72963484..72964015-chr16:73089052..73089953,2	MCF-7	breast:
4	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
5	chr16:73081344..73082144-chr16:73090114..73090753,2	MCF-7	breast:
6	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
7	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
8	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
9	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
10	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
11	chr16:73049519..73050143-chr16:73089033..73089911,2	MCF-7	breast:
12	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
13	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
14	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
15	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
16	chr16:73082425..73084366-chr16:73087319..73089804,2	K562	blood:
17	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:
18	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
19	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
20	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:
21	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
22	chr16:72947016..72947886-chr16:73089092..73089868,3	MCF-7	breast:
23	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
24	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
25	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
26	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
27	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
28	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
29	chr16:73046781..73051112-chr16:73086849..73089877,3	MCF-7	breast:
30	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
31	chr16:72833626..72835422-chr16:73088428..73090096,2	MCF-7	breast:
32	chr16:72943044..72944852-chr16:73087640..73090258,2	MCF-7	breast:
33	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
34	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
35	chr16:73088393..73091029-chr16:73316559..73318962,2	MCF-7	breast:
36	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
37	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:
38	chr16:72820675..72822937-chr16:73088411..73090468,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-44L9.1.1-12	chr16:73094144-73094658	ENSG00000272250.1
2	lnc-RP11-44L9.1.1-12	chr16:73093800-73095621	NONHSAT143627

No data

Variant related genes	Relation type
ZFHX3	TF binding region
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ZFHX3	CpG island
ENSG00000272250	CpG island
ENSG00000271009	CpG island
ENSG00000061273	chromatin interactions
ENSG00000103035	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000261404	chromatin interactions
ENSG00000101608	chromatin interactions
ENSG00000265573	chromatin interactions
ENSG00000221799	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000272330	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000266402	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78053786	chr16:73089716-73089717	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs146590791	chr16:73089746-73089747	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs373317951	chr16:73089747-73089748	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs200543278	chr16:73089749-73089750	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs10672414	chr16:73089772-73089773	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs550383911	chr16:73089806-73089807	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs150160424	chr16:73089831-73089832	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs531005949	chr16:73089867-73089868	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs549709129	chr16:73089918-73089919	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs561250436	chr16:73089948-73089949	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs370680773	chr16:73089950-73089951	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs540672235	chr16:73089961-73089962	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs567912408	chr16:73089982-73089983	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs535040159	chr16:73090015-73090016	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs546983013	chr16:73090022-73090023	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs8048267	chr16:73090039-73090040	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539167985	chr16:73090071-73090072	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs577704363	chr16:73090085-73090086	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs139083516	chr16:73090097-73090098	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs8048140	chr16:73090103-73090104	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536011175	chr16:73090113-73090114	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs372121828	chr16:73090136-73090137	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs142992177	chr16:73090208-73090209	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs60236831	chr16:73090217-73090218	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs565540870	chr16:73090235-73090236	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs527910543	chr16:73090268-73090269	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs547963966	chr16:73090277-73090278	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs369205789	chr16:73090295-73090296	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs540119113	chr16:73090340-73090341	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs564569553	chr16:73090345-73090346	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs576761205	chr16:73090352-73090353	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs544338423	chr16:73090362-73090363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs147486635	chr16:73090399-73090400	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs531138761	chr16:73090408-73090409	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs549570463	chr16:73090530-73090531	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs530257964	chr16:73090535-73090536	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs561585270	chr16:73090540-73090541	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs528822379	chr16:73090592-73090593	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs547308976	chr16:73090595-73090596	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs550246075	chr16:73090701-73090702	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs571654797	chr16:73090703-73090704	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs538615256	chr16:73090767-73090768	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs374781506	chr16:73090783-73090784	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs551054570	chr16:73090795-73090796	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs569221454	chr16:73090845-73090846	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs536056597	chr16:73090896-73090897	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs191232111	chr16:73090966-73090967	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs139929335	chr16:73090992-73090993	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs368808730	chr16:73091044-73091045	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs558423104	chr16:73091058-73091059	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73082600-73090400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:73083200-73090600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:73085800-73091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:73086000-73090000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr16:73086400-73091000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:73087000-73090800	Enhancers	HMEC	breast
8	chr16:73087200-73089800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr16:73087200-73091200	Enhancers	Primary hematopoietic stem cells	blood
10	chr16:73087600-73089800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
12	chr16:73087800-73089800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:73087800-73090000	Enhancers	Fetal Kidney	kidney
14	chr16:73087800-73090200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:73087800-73090400	Weak transcription	Ovary	ovary
16	chr16:73087800-73090800	Enhancers	Small Intestine	intestine
17	chr16:73087800-73091400	Weak transcription	Lung	lung
18	chr16:73087800-73099200	Active TSS	Aorta	Aorta
19	chr16:73088200-73089800	Flanking Active TSS	Liver	Liver
20	chr16:73088200-73089800	Weak transcription	Brain Substantia Nigra	brain
21	chr16:73088200-73089800	Enhancers	HUVEC	blood vessel
22	chr16:73088200-73091000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr16:73088200-73095200	Active TSS	Right Atrium	heart
24	chr16:73088400-73089800	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr16:73088400-73090000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr16:73088400-73090400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr16:73088400-73090600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr16:73088400-73090800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr16:73088400-73090800	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr16:73088400-73091000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:73088400-73091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:73088400-73091200	Flanking Active TSS	Osteobl	bone
33	chr16:73088600-73090200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr16:73088600-73090800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:73088600-73090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:73088600-73090800	Flanking Active TSS	Fetal Lung	lung
37	chr16:73088600-73090800	Flanking Active TSS	Hela-S3	cervix
38	chr16:73088600-73091000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:73088600-73091000	Enhancers	Fetal Heart	heart
40	chr16:73088600-73091000	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr16:73088600-73091000	Bivalent Enhancer	Dnd41	blood
42	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
43	chr16:73088800-73090400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr16:73088800-73090400	Bivalent Enhancer	Primary T cells from cord blood	blood
45	chr16:73088800-73091000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:73088800-73091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
48	chr16:73089000-73089800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:73089000-73089800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:73089000-73089800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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