Variant report

Variant	esv3340230
Chromosome Location	chr16:73090976-73094024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:480)
CpG islands
(count:429)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:73090636-73091153	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
3	BACH1	chr16:73091594-73091724	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr16:73092959-73093195	A549	lung:	n/a	n/a
5	BHLHE40	chr16:73092227-73092436	GM12878	blood:	n/a	chr16:73092375-73092391 chr16:73092380-73092396
6	BHLHE40	chr16:73091019-73091030	HepG2	liver:	n/a	n/a
7	BRCA1	chr16:73092944-73093333	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr16:73091490-73091661	Hela-S3	cervix:	n/a	n/a
9	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
10	CHD2	chr16:73091365-73091797	Hela-S3	cervix:	n/a	chr16:73091379-73091389 chr16:73091670-73091680
11	CHD2	chr16:73092171-73092475	Hela-S3	cervix:	n/a	chr16:73092358-73092368
12	CREB1	chr16:73092132-73092481	A549	lung:	n/a	n/a
13	CTBP2	chr16:73091406-73091888	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr16:73092781-73093160	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr16:73092280-73092430	GM12866	blood:	n/a	chr16:73092285-73092298
16	CTCF	chr16:73091429-73091798	GM12878	blood:	n/a	n/a
17	CTCF	chr16:73091520-73091704	MCF-7	breast:	n/a	n/a
18	CTCF	chr16:73090980-73091130	A549	lung:	n/a	n/a
19	CTCF	chr16:73092249-73092305	GM19238	blood:	n/a	chr16:73092285-73092298
20	CTCF	chr16:73091581-73091616	NHEK	skin:	n/a	n/a
21	CTCF	chr16:73091549-73091642	HepG2	liver:	n/a	n/a
22	CTCF	chr16:73091520-73091670	HAc	cerebellar:	n/a	n/a
23	CTCF	chr16:73091500-73091650	HMF	breast:	n/a	n/a
24	CTCF	chr16:73091520-73091670	AG09309	skin:	n/a	n/a
25	CTCF	chr16:73091460-73091610	GM12864	blood:	n/a	n/a
26	CTCF	chr16:73091507-73091738	GM12892	blood:	n/a	n/a
27	CTCF	chr16:73091500-73091650	GM12865	blood:	n/a	n/a
28	CTCF	chr16:73093000-73093150	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr16:73091380-73091530	GM12872	blood:	n/a	n/a
30	CTCF	chr16:73092840-73092990	AG04449	skin:	n/a	n/a
31	CTCF	chr16:73091560-73091710	GM12870	blood:	n/a	n/a
32	CTCF	chr16:73091534-73091753	MCF-7	breast:	n/a	n/a
33	CTCF	chr16:73092200-73092350	GM12870	blood:	n/a	chr16:73092285-73092298
34	CTCF	chr16:73091500-73091650	SAEC	small airway:	n/a	n/a
35	CTCF	chr16:73091569-73091642	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr16:73091500-73091650	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr16:73091480-73091630	BJ	skin:	n/a	n/a
38	CTCF	chr16:73091440-73091710	HCT-116	colon:	n/a	n/a
39	CTCF	chr16:73091480-73091630	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr16:73091520-73091670	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr16:73091460-73091610	GM06990	blood:	n/a	n/a
42	CTCF	chr16:73091540-73091690	Caco-2	colon:	n/a	n/a
43	CTCF	chr16:73091420-73091570	GM12873	blood:	n/a	n/a
44	CTCF	chr16:73092203-73092298	Pancreas_OC	pancreas:	n/a	chr16:73092285-73092298
45	CTCF	chr16:73092239-73092306	Fibrobl	skin:	n/a	chr16:73092285-73092298
46	CTCF	chr16:73093282-73093360	GM20000	blood:	n/a	n/a
47	CTCF	chr16:73091496-73091690	GM19238	blood:	n/a	n/a
48	CTCF	chr16:73091567-73091711	GM19239	blood:	n/a	n/a
49	CTCF	chr16:73091600-73091750	BE2_C	brain:	n/a	n/a
50	CTCF	chr16:73091520-73091670	GM12871	blood:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:73093309-73093359	PFSK-1	brain:	n/a
2	chr16:73092391-73092441	HCT-116	colon:	n/a
3	chr16:73093309-73093359	PFSK-1	brain:	n/a
4	chr16:73092391-73092441	HCT-116	colon:	n/a
5	chr16:73092391-73092441	HL-60	blood:	n/a
6	chr16:73092391-73092441	AG04450	lung:	fetal
7	chr16:73093309-73093359	RPTEC	kidney:	n/a
8	chr16:73092391-73092441	HepG2	liver:	n/a
9	chr16:73092394-73092444	U87	brain:	n/a
10	chr16:73093296-73093346	HAEpiC	amniotic membrane:	n/a
11	chr16:73091917-73091967	HRCEpiC	kidney:	n/a
12	chr16:73092394-73092444	BE2_C	brain:	n/a
13	chr16:73093309-73093359	HAEpiC	amniotic membrane:	n/a
14	chr16:73091917-73091967	HL-60	blood:	n/a
15	chr16:73092823-73092873	HCM	heart:	n/a
16	chr16:73091565-73091615	AG09309	skin:	n/a
17	chr16:73091917-73091967	HAEpiC	amniotic membrane:	n/a
18	chr16:73091565-73091615	ovcar-3	ovarian:	n/a
19	chr16:73093296-73093346	SK-N-SH	brain:	n/a
20	chr16:73092391-73092441	BE2_C	brain:	n/a
21	chr16:73093309-73093359	GM19239	blood:	n/a
22	chr16:73093296-73093346	HCM	heart:	n/a
23	chr16:73093309-73093359	SK-N-MC	brain:	n/a
24	chr16:73092394-73092444	ECC-1	luminal epithelium:	n/a
25	chr16:73092823-73092873	AoSMC	blood vessel:	n/a
26	chr16:73092823-73092873	Jurkat	blood:	n/a
27	chr16:73093296-73093346	NHDF-neo	bronchial:	n/a
28	chr16:73093296-73093346	SK-N-MC	brain:	n/a
29	chr16:73091917-73091967	MCF10A-Er-Src	breast:	n/a
30	chr16:73093296-73093346	H1-hESC	embryonic stem cell:	embryo
31	chr16:73091917-73091967	MCF-7	breast:	n/a
32	chr16:73091917-73091967	NH-A	brain:	n/a
33	chr16:73093309-73093359	HRE	kidney:	n/a
34	chr16:73092394-73092444	SK-N-SH	brain:	n/a
35	chr16:73091917-73091967	H1-hESC	embryonic stem cell:	embryo
36	chr16:73093296-73093346	ECC-1	luminal epithelium:	n/a
37	chr16:73091565-73091615	HEK293	kidney:	embryo
38	chr16:73091917-73091967	PrEC	prostate:	n/a
39	chr16:73093296-73093346	ProgFib	skin:	n/a
40	chr16:73092391-73092441	GM19239	blood:	n/a
41	chr16:73091565-73091615	LNCaP	prostate:	n/a
42	chr16:73093296-73093346	IMR90	lung:	fetal
43	chr16:73092823-73092873	HIPEpiC	eye:	n/a
44	chr16:73092391-73092441	GM12891	blood:	n/a
45	chr16:73093296-73093346	AoSMC	blood vessel:	n/a
46	chr16:73092394-73092444	HRCEpiC	kidney:	n/a
47	chr16:73092823-73092873	HRCEpiC	kidney:	n/a
48	chr16:73093296-73093346	AG10803	skin:	n/a
49	chr16:73093309-73093359	HCF	heart:	n/a
50	chr16:73093296-73093346	BJ	skin:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
2	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
3	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
4	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
5	chr16:73088393..73091029-chr16:73316559..73318962,2	MCF-7	breast:
6	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
7	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
8	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
9	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
10	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:
11	chr16:72535525..72537335-chr16:73089381..73091034,2	MCF-7	breast:
12	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
13	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
14	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
15	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
16	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
17	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
18	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
19	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
20	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
21	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
22	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
23	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
24	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:
25	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
26	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
27	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
28	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:
29	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:

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

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

No data

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

Extended variants
information (count: 100 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	rs576784908	chr16:73091060-73091061	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
5	rs367686331	chr16:73091079-73091080	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
6	rs543814509	chr16:73091080-73091081	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
7	rs149620930	chr16:73091092-73091093	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
8	rs574416924	chr16:73091119-73091120	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
9	rs144320470	chr16:73091151-73091152	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
10	rs561511830	chr16:73091156-73091157	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
11	rs376311903	chr16:73091198-73091199	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
12	rs111779422	chr16:73091416-73091417	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs115161437	chr16:73091419-73091420	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs60945619	chr16:73091435-73091436	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs77635810	chr16:73091447-73091448	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs565392188	chr16:73091466-73091467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs532557751	chr16:73091521-73091522	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs550663711	chr16:73091529-73091530	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs62055081	chr16:73091589-73091590	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113437386	chr16:73091592-73091593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs7202196	chr16:73091600-73091601	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs566371997	chr16:73091646-73091647	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs533701658	chr16:73091658-73091659	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs558819908	chr16:73091685-73091686	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs570627166	chr16:73091705-73091706	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs375384356	chr16:73091737-73091738	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs555921199	chr16:73091740-73091741	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs574352916	chr16:73091745-73091746	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs541985052	chr16:73091847-73091848	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs184941562	chr16:73091920-73091921	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs544114435	chr16:73092162-73092163	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs563780064	chr16:73092174-73092175	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs573477081	chr16:73092176-73092177	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs540799739	chr16:73092215-73092216	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs142472889	chr16:73092220-73092221	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs532726232	chr16:73092222-73092223	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs190236458	chr16:73092257-73092258	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs562790031	chr16:73092376-73092377	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs532746572	chr16:73092380-73092381	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs530030455	chr16:73092386-73092387	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs548288914	chr16:73092390-73092391	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs566583259	chr16:73092394-73092395	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs527504892	chr16:73092397-73092398	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs552052714	chr16:73092571-73092572	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs552488803	chr16:73092596-73092597	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs571058488	chr16:73092598-73092599	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs373223830	chr16:73092754-73092755	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs537779643	chr16:73092769-73092770	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs556412900	chr16:73092775-73092776	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs568070677	chr16:73092805-73092806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 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:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73083200-73091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:73085800-73091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:73086400-73091000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:73087200-73091200	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
6	chr16:73087800-73091400	Weak transcription	Lung	lung
7	chr16:73087800-73099200	Active TSS	Aorta	Aorta
8	chr16:73088200-73091000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr16:73088200-73095200	Active TSS	Right Atrium	heart
10	chr16:73088400-73091000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:73088400-73091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:73088400-73091200	Flanking Active TSS	Osteobl	bone
13	chr16:73088600-73091000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:73088600-73091000	Enhancers	Fetal Heart	heart
15	chr16:73088600-73091000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr16:73088600-73091000	Bivalent Enhancer	Dnd41	blood
17	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
18	chr16:73088800-73091000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:73088800-73091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
21	chr16:73089200-73091400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
24	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr16:73089400-73091200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:73089400-73091400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
28	chr16:73089600-73091000	Flanking Active TSS	Fetal Stomach	stomach
29	chr16:73089600-73091200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr16:73089600-73091400	Weak transcription	Esophagus	oesophagus
31	chr16:73089600-73091400	Weak transcription	Gastric	stomach
32	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
34	chr16:73089800-73091000	Flanking Active TSS	NH-A	brain
35	chr16:73089800-73091200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr16:73089800-73091200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:73089800-73091200	Weak transcription	Pancreas	Pancrea
38	chr16:73089800-73091400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:73089800-73091400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr16:73089800-73091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:73089800-73091600	Flanking Active TSS	HUVEC	blood vessel
42	chr16:73089800-73091800	Active TSS	Brain Substantia Nigra	brain
43	chr16:73089800-73091800	Active TSS	NHDF-Ad	bronchial
44	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
45	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
46	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
47	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
48	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:73090000-73091200	Bivalent/Poised TSS	Fetal Brain Male	brain
50	chr16:73090000-73091200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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