Variant report

Variant	esv3333736
Chromosome Location	chr16:81477276-81479824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:489)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:81478183-81478360	K562	blood:	n/a	n/a
2	ATF3	chr16:81478217-81478415	GM12878	blood:	n/a	chr16:81478316-81478323 chr16:81478313-81478324 chr16:81478316-81478326 chr16:81478313-81478326 chr16:81478315-81478326 chr16:81478313-81478326 chr16:81478316-81478326
3	ATF3	chr16:81478170-81478463	K562	blood:	n/a	chr16:81478316-81478323 chr16:81478313-81478324 chr16:81478316-81478326 chr16:81478313-81478326 chr16:81478315-81478326 chr16:81478313-81478326 chr16:81478316-81478326
4	ATF3	chr16:81478207-81478457	H1-hESC	embryonic stem cell:	n/a	chr16:81478316-81478323 chr16:81478313-81478324 chr16:81478316-81478326 chr16:81478313-81478326 chr16:81478315-81478326 chr16:81478313-81478326 chr16:81478316-81478326
5	ATF3	chr16:81478131-81478500	HepG2	liver:	n/a	chr16:81478316-81478323 chr16:81478313-81478324 chr16:81478316-81478326 chr16:81478313-81478326 chr16:81478315-81478326 chr16:81478313-81478326 chr16:81478316-81478326
6	BACH1	chr16:81478209-81478481	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr16:81477569-81477632	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr16:81479534-81480243	A549	lung:	n/a	n/a
9	BHLHE40	chr16:81478257-81478686	HepG2	liver:	n/a	chr16:81478288-81478304 chr16:81478289-81478305
10	BHLHE40	chr16:81478092-81478621	GM12878	blood:	n/a	chr16:81478288-81478304 chr16:81478289-81478305
11	BHLHE40	chr16:81478953-81479204	K562	blood:	n/a	n/a
12	BHLHE40	chr16:81478189-81478695	K562	blood:	n/a	chr16:81478288-81478304 chr16:81478289-81478305
13	BHLHE40	chr16:81477238-81477474	K562	blood:	n/a	n/a
14	BHLHE40	chr16:81479639-81479884	GM12878	blood:	n/a	n/a
15	BRCA1	chr16:81478186-81478261	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr16:81479500-81479546	GM12878	blood:	n/a	n/a
17	BRCA1	chr16:81479480-81479723	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr16:81477160-81477504	K562	blood:	n/a	n/a
19	CBX3	chr16:81478986-81479260	K562	blood:	n/a	n/a
20	CCNT2	chr16:81479022-81479259	K562	blood:	n/a	n/a
21	CCNT2	chr16:81477875-81478765	K562	blood:	n/a	n/a
22	CEBPB	chr16:81478274-81478476	Hela-S3	cervix:	n/a	n/a
23	CEBPD	chr16:81477956-81478825	HepG2	liver:	n/a	n/a
24	CHD1	chr16:81479012-81479166	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr16:81479492-81479751	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr16:81479549-81479789	GM12878	blood:	n/a	n/a
27	CHD2	chr16:81479680-81479875	HepG2	liver:	n/a	n/a
28	CHD2	chr16:81478202-81478479	K562	blood:	n/a	n/a
29	CHD2	chr16:81478029-81478584	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr16:81478916-81479287	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr16:81479463-81480233	GM12878	blood:	n/a	n/a
32	CHD2	chr16:81479585-81479852	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr16:81479520-81479682	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr16:81478267-81478385	GM12878	blood:	n/a	n/a
35	CHD2	chr16:81479002-81479111	GM12878	blood:	n/a	n/a
36	CHD2	chr16:81477885-81478014	HepG2	liver:	n/a	n/a
37	CHD2	chr16:81479003-81479017	HepG2	liver:	n/a	n/a
38	CHD2	chr16:81477835-81477940	K562	blood:	n/a	n/a
39	CHD2	chr16:81479639-81480027	K562	blood:	n/a	n/a
40	CREB1	chr16:81477472-81479349	HepG2	liver:	n/a	n/a
41	CREB1	chr16:81477986-81478495	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr16:81477623-81478545	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr16:81477710-81478645	A549	lung:	n/a	n/a
44	CREB1	chr16:81477961-81478451	A549	lung:	n/a	n/a
45	CREB1	chr16:81477691-81478593	HepG2	liver:	n/a	n/a
46	CREB1	chr16:81477869-81478568	GM12878	blood:	n/a	n/a
47	CREB1	chr16:81477666-81478666	K562	blood:	n/a	n/a
48	CTCF	chr16:81479100-81479250	HRE	kidney:	n/a	chr16:81479210-81479223
49	CTCF	chr16:81479100-81479250	MCF-7	breast:	n/a	chr16:81479210-81479223
50	CTCF	chr16:81479180-81479330	K562	blood:	n/a	chr16:81479210-81479223

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81478359-81478409	H1-hESC	embryonic stem cell:	embryo
2	chr16:81478359-81478409	H1-hESC	embryonic stem cell:	embryo
3	chr16:81479309-81479359	Hela-S3	cervix:	n/a
4	chr16:81479309-81479359	BJ	skin:	n/a
5	chr16:81478765-81478815	T-47D	breast:	n/a
6	chr16:81477864-81477914	HIPEpiC	eye:	n/a
7	chr16:81478765-81478815	GM12892	blood:	n/a
8	chr16:81479272-81479322	AG10803	skin:	n/a
9	chr16:81479309-81479359	HepG2	liver:	n/a
10	chr16:81478990-81479040	NHDF-neo	bronchial:	n/a
11	chr16:81477373-81477423	HAEpiC	amniotic membrane:	n/a
12	chr16:81478990-81479040	GM12878	blood:	n/a
13	chr16:81477840-81477890	AoSMC	blood vessel:	n/a
14	chr16:81477373-81477423	HRCEpiC	kidney:	n/a
15	chr16:81478359-81478409	HEEpiC	esophagus:	n/a
16	chr16:81477840-81477890	NH-A	brain:	n/a
17	chr16:81479309-81479359	NB4	blood:	n/a
18	chr16:81477840-81477890	GM06990	blood:	n/a
19	chr16:81477864-81477914	AG09309	skin:	n/a
20	chr16:81477864-81477914	U87	brain:	n/a
21	chr16:81478359-81478409	ProgFib	skin:	n/a
22	chr16:81478359-81478409	AG04450	lung:	fetal
23	chr16:81478990-81479040	HCF	heart:	n/a
24	chr16:81477840-81477890	HEK293	kidney:	embryo
25	chr16:81478990-81479040	PFSK-1	brain:	n/a
26	chr16:81479272-81479322	T-47D	breast:	n/a
27	chr16:81477864-81477914	ovcar-3	ovarian:	n/a
28	chr16:81478990-81479040	AG04449	skin:	fetal
29	chr16:81477840-81477890	PrEC	prostate:	n/a
30	chr16:81478359-81478409	SAEC	small airway:	n/a
31	chr16:81477373-81477423	AoSMC	blood vessel:	n/a
32	chr16:81477373-81477423	Hela-S3	cervix:	n/a
33	chr16:81477373-81477423	HRPEpiC	eye:	n/a
34	chr16:81477840-81477890	Jurkat	blood:	n/a
35	chr16:81479309-81479359	GM12892	blood:	n/a
36	chr16:81477864-81477914	GM19239	blood:	n/a
37	chr16:81477864-81477914	NHDF-neo	bronchial:	n/a
38	chr16:81477864-81477914	NB4	blood:	n/a
39	chr16:81477373-81477423	NB4	blood:	n/a
40	chr16:81477373-81477423	LNCaP	prostate:	n/a
41	chr16:81477840-81477890	K562	blood:	n/a
42	chr16:81477373-81477423	GM12878	blood:	n/a
43	chr16:81479309-81479359	HUVEC	blood vessel:	n/a
44	chr16:81478359-81478409	HRE	kidney:	n/a
45	chr16:81477864-81477914	PFSK-1	brain:	n/a
46	chr16:81478990-81479040	Hela-S3	cervix:	n/a
47	chr16:81477864-81477914	NHBE	bronchial:	n/a
48	chr16:81477864-81477914	NT2-D1	testis:	n/a
49	chr16:81479272-81479322	AoSMC	blood vessel:	n/a
50	chr16:81477840-81477890	AG09309	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81477150..81481169-chr16:81642368..81644770,3	MCF-7	breast:
2	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:
3	chr1:153939722..153940249-chr16:81477656..81478327,2	Hela-S3	cervix:
4	chr14:74318395..74319081-chr16:81477958..81478498,2	HCT-116	colon:
5	chr16:81476956..81478649-chr16:81496180..81498094,2	MCF-7	breast:
6	chr16:81478827..81479327-chr5:39073974..39074703,2	Hela-S3	cervix:
7	chr16:81477412..81480094-chr16:81509013..81511595,4	MCF-7	breast:
8	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
9	chr12:10554334..10554872-chr16:81477760..81478703,2	Hela-S3	cervix:
10	chr16:81476563..81478400-chr16:81499399..81501663,2	MCF-7	breast:
11	chr16:81475858..81478568-chr16:81729319..81732099,2	K562	blood:
12	chr16:81479204..81482002-chr16:81562835..81564936,2	MCF-7	breast:
13	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
14	chr16:81475472..81478406-chr16:81671837..81673759,2	MCF-7	breast:
15	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
16	chr16:81479233..81481383-chr16:81669168..81671118,2	MCF-7	breast:

No data

Variant related genes	Relation type
CMIP	TF binding region
CMIP	CpG island
ENSG00000258653	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000260229	chromatin interactions
ENSG00000153815	chromatin interactions
ENSG00000164327	chromatin interactions
ENSG00000261609	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000140043	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550688267	chr16:81477284-81477285	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568849969	chr16:81477341-81477342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77588737	chr16:81477404-81477405	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551693360	chr16:81477410-81477411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182699060	chr16:81477412-81477413	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs185993224	chr16:81477417-81477418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs555243918	chr16:81477419-81477420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs573813292	chr16:81477430-81477431	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544062751	chr16:81477467-81477468	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563752024	chr16:81477519-81477520	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs535556424	chr16:81477565-81477566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs377690590	chr16:81477566-81477567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs139551670	chr16:81477588-81477589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs575223202	chr16:81477593-81477594	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs149293821	chr16:81477618-81477619	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs34382148	chr16:81477640-81477641	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs191067381	chr16:81477662-81477663	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs144564006	chr16:81477665-81477666	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs540939426	chr16:81477677-81477678	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs138400572	chr16:81477685-81477686	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs183202922	chr16:81477712-81477713	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs139547209	chr16:81477775-81477776	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs77062788	chr16:81477819-81477820	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs562614088	chr16:81477824-81477825	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs533069203	chr16:81477853-81477854	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs551351000	chr16:81477856-81477857	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs566496283	chr16:81477878-81477879	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs527575542	chr16:81477890-81477891	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs371293656	chr16:81477902-81477903	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs549286498	chr16:81477920-81477921	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs567345846	chr16:81477932-81477933	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs543407896	chr16:81477962-81477963	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs538083624	chr16:81477965-81477966	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs556092433	chr16:81477990-81477991	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs568961420	chr16:81477999-81478000	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs539565388	chr16:81478013-81478014	Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs557694089	chr16:81478023-81478024	Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs529997952	chr16:81478066-81478067	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs112813386	chr16:81478197-81478198	Weak transcription Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs7193695	chr16:81478379-81478380	Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs140318419	chr16:81478669-81478670	Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs373814316	chr16:81478924-81478925	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs377609441	chr16:81478925-81478926	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs540549801	chr16:81478955-81478956	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs369568953	chr16:81478962-81478963	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs374257636	chr16:81478976-81478977	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs36159800	chr16:81478987-81478988	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs377472147	chr16:81479062-81479063	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs142437457	chr16:81479163-81479164	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs375522168	chr16:81479169-81479170	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81474000-81477400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:81474400-81477600	Weak transcription	Right Atrium	heart
3	chr16:81474800-81477600	Weak transcription	Fetal Lung	lung
4	chr16:81474800-81477600	Weak transcription	Spleen	Spleen
5	chr16:81475000-81477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81475200-81477400	Weak transcription	Ovary	ovary
7	chr16:81475200-81477600	Weak transcription	Esophagus	oesophagus
8	chr16:81475400-81477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:81475600-81477400	Enhancers	HSMMtube	muscle
10	chr16:81475800-81477400	Weak transcription	Fetal Brain Female	brain
11	chr16:81475800-81477600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:81476000-81477600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr16:81476000-81477800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr16:81476000-81478000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr16:81476000-81478000	Enhancers	Stomach Mucosa	stomach
16	chr16:81476200-81477600	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:81476200-81477600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr16:81476200-81477600	Enhancers	Brain Substantia Nigra	brain
19	chr16:81476200-81477600	Enhancers	Duodenum Mucosa	Duodenum
20	chr16:81476400-81477400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr16:81476400-81477600	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:81476400-81477600	Enhancers	Colonic Mucosa	Colon
23	chr16:81476400-81477600	Enhancers	Fetal Intestine Large	intestine
24	chr16:81476400-81477800	Flanking Active TSS	A549	lung
25	chr16:81476600-81477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:81476600-81477600	Enhancers	Fetal Thymus	thymus
27	chr16:81476600-81478000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr16:81476800-81477600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:81476800-81477600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:81476800-81477600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:81476800-81477600	Enhancers	Fetal Intestine Small	intestine
32	chr16:81476800-81477600	Enhancers	Placenta	Placenta
33	chr16:81476800-81477600	Weak transcription	Thymus	Thymus
34	chr16:81476800-81477600	Enhancers	GM12878-XiMat	blood
35	chr16:81476800-81477800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr16:81477000-81477400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:81477000-81477400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:81477000-81477400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr16:81477000-81477400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:81477000-81477400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:81477000-81477400	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr16:81477000-81477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:81477000-81477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:81477000-81477600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:81477000-81477600	Weak transcription	Gastric	stomach
46	chr16:81477000-81477600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:81477000-81477600	Enhancers	Dnd41	blood
48	chr16:81477000-81477800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr16:81477200-81477400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
50	chr16:81477200-81477400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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