Variant report

Variant	esv3357337
Chromosome Location	chr16:81476876-81479424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr16:81478170-81478463	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
3	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
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	chr16:81478217-81478415	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
6	BACH1	chr16:81477569-81477632	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr16:81478209-81478481	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr16:81478257-81478686	HepG2	liver:	n/a	chr16:81478288-81478304 chr16:81478289-81478305
9	BHLHE40	chr16:81478092-81478621	GM12878	blood:	n/a	chr16:81478288-81478304 chr16:81478289-81478305
10	BHLHE40	chr16:81477238-81477474	K562	blood:	n/a	n/a
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	BRCA1	chr16:81478186-81478261	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr16:81477160-81477504	K562	blood:	n/a	n/a
15	CBX3	chr16:81478986-81479260	K562	blood:	n/a	n/a
16	CCNT2	chr16:81479022-81479259	K562	blood:	n/a	n/a
17	CCNT2	chr16:81477875-81478765	K562	blood:	n/a	n/a
18	CEBPB	chr16:81478274-81478476	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr16:81477956-81478825	HepG2	liver:	n/a	n/a
20	CEBPZ	chr16:81476866-81477001	HepG2	liver:	n/a	n/a
21	CHD1	chr16:81479012-81479166	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr16:81478916-81479287	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr16:81477885-81478014	HepG2	liver:	n/a	n/a
24	CHD2	chr16:81477835-81477940	K562	blood:	n/a	n/a
25	CHD2	chr16:81479002-81479111	GM12878	blood:	n/a	n/a
26	CHD2	chr16:81479003-81479017	HepG2	liver:	n/a	n/a
27	CHD2	chr16:81478202-81478479	K562	blood:	n/a	n/a
28	CHD2	chr16:81478029-81478584	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr16:81478267-81478385	GM12878	blood:	n/a	n/a
30	CREB1	chr16:81477691-81478593	HepG2	liver:	n/a	n/a
31	CREB1	chr16:81477666-81478666	K562	blood:	n/a	n/a
32	CREB1	chr16:81477869-81478568	GM12878	blood:	n/a	n/a
33	CREB1	chr16:81477961-81478451	A549	lung:	n/a	n/a
34	CREB1	chr16:81477710-81478645	A549	lung:	n/a	n/a
35	CREB1	chr16:81476433-81476968	HepG2	liver:	n/a	n/a
36	CREB1	chr16:81477986-81478495	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr16:81477623-81478545	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr16:81476420-81476951	HepG2	liver:	n/a	n/a
39	CREB1	chr16:81477472-81479349	HepG2	liver:	n/a	n/a
40	CTCF	chr16:81479080-81479230	HPAF	blood vessel:	n/a	chr16:81479210-81479223
41	CTCF	chr16:81478940-81479090	HFF	foreskin:	n/a	n/a
42	CTCF	chr16:81479060-81479210	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr16:81479100-81479250	HVMF	connective:	n/a	chr16:81479210-81479223
44	CTCF	chr16:81479067-81479258	MCF-7	breast:	n/a	chr16:81479210-81479223
45	CTCF	chr16:81479080-81479230	HA-sp	spinal cord:	n/a	chr16:81479210-81479223
46	CTCF	chr16:81479080-81479230	HMF	breast:	n/a	chr16:81479210-81479223
47	CTCF	chr16:81479120-81479270	GM12870	blood:	n/a	chr16:81479210-81479223
48	CTCF	chr16:81479100-81479250	K562	blood:	n/a	chr16:81479210-81479223
49	CTCF	chr16:81479080-81479230	AG09309	skin:	n/a	chr16:81479210-81479223
50	CTCF	chr16:81479027-81479353	IMR90	lung:	n/a	chr16:81479210-81479223

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81477373-81477423	RPTEC	kidney:	n/a
2	chr16:81478765-81478815	HRPEpiC	eye:	n/a
3	chr16:81478359-81478409	AG09319	gingival:	n/a
4	chr16:81477373-81477423	HRE	kidney:	n/a
5	chr16:81479309-81479359	PFSK-1	brain:	n/a
6	chr16:81477864-81477914	HepG2	liver:	n/a
7	chr16:81479272-81479322	MCF-7	breast:	n/a
8	chr16:81478359-81478409	HepG2	liver:	n/a
9	chr16:81479272-81479322	NHDF-neo	bronchial:	n/a
10	chr16:81477373-81477423	NH-A	brain:	n/a
11	chr16:81478765-81478815	SK-N-MC	brain:	n/a
12	chr16:81478990-81479040	HAEpiC	amniotic membrane:	n/a
13	chr16:81477373-81477423	SK-N-SH	brain:	n/a
14	chr16:81478990-81479040	LNCaP	prostate:	n/a
15	chr16:81478765-81478815	AG09309	skin:	n/a
16	chr16:81477864-81477914	GM12878	blood:	n/a
17	chr16:81478359-81478409	HCF	heart:	n/a
18	chr16:81477864-81477914	ProgFib	skin:	n/a
19	chr16:81477864-81477914	ECC-1	luminal epithelium:	n/a
20	chr16:81477373-81477423	HNPCEpiC	eye:	n/a
21	chr16:81479309-81479359	A549	lung:	n/a
22	chr16:81477864-81477914	HL-60	blood:	n/a
23	chr16:81478765-81478815	HPAEpiC	pulmonary alveolar:	n/a
24	chr16:81479309-81479359	MCF-7	breast:	n/a
25	chr16:81479309-81479359	Hela-S3	cervix:	n/a
26	chr16:81478765-81478815	AG09319	gingival:	n/a
27	chr16:81478765-81478815	HepG2	liver:	n/a
28	chr16:81478359-81478409	MCF10A-Er-Src	breast:	n/a
29	chr16:81477373-81477423	AG04449	skin:	fetal
30	chr16:81478765-81478815	HL-60	blood:	n/a
31	chr16:81478359-81478409	SKMC	muscle:	n/a
32	chr16:81478765-81478815	NT2-D1	testis:	n/a
33	chr16:81478359-81478409	RPTEC	kidney:	n/a
34	chr16:81479272-81479322	HAEpiC	amniotic membrane:	n/a
35	chr16:81477864-81477914	AG09309	skin:	n/a
36	chr16:81477373-81477423	AG04450	lung:	fetal
37	chr16:81477864-81477914	GM12892	blood:	n/a
38	chr16:81478990-81479040	NHBE	bronchial:	n/a
39	chr16:81478359-81478409	BE2_C	brain:	n/a
40	chr16:81479309-81479359	GM12878	blood:	n/a
41	chr16:81479309-81479359	HIPEpiC	eye:	n/a
42	chr16:81478359-81478409	AG09309	skin:	n/a
43	chr16:81479309-81479359	AG09309	skin:	n/a
44	chr16:81477864-81477914	AG09319	gingival:	n/a
45	chr16:81478990-81479040	PANC-1	pancreas:	n/a
46	chr16:81477864-81477914	HCT-116	colon:	n/a
47	chr16:81477373-81477423	SAEC	small airway:	n/a
48	chr16:81477840-81477890	Hepatocyte	liver:	n/a
49	chr16:81477864-81477914	MCF-7	breast:	n/a
50	chr16:81477373-81477423	Hela-S3	cervix:	n/a

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

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

Extended variants
information (count: 78 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191279913	chr16:81476919-81476920	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs144979482	chr16:81476937-81476938	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35616678	chr16:81476938-81476939	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563517111	chr16:81476969-81476970	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574941693	chr16:81476985-81476986	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575261987	chr16:81476990-81476991	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546084208	chr16:81477133-81477134	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138819717	chr16:81477186-81477187	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564479113	chr16:81477189-81477190	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528768239	chr16:81477190-81477191	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28448863	chr16:81477210-81477211	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114092249	chr16:81477254-81477255	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
13	rs150594852	chr16:81477270-81477271	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	rs539565388	chr16:81478013-81478014	Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs557694089	chr16:81478023-81478024	Weak transcription Active TSS	TF binding region Chromatin interactive region	9 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:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81471800-81477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr16:81472400-81477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:81473000-81477000	Weak transcription	Dnd41	blood
4	chr16:81474000-81477200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:81474000-81477400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:81474400-81477600	Weak transcription	Right Atrium	heart
7	chr16:81474800-81477600	Weak transcription	Fetal Lung	lung
8	chr16:81474800-81477600	Weak transcription	Spleen	Spleen
9	chr16:81475000-81477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81475200-81477200	Weak transcription	NHEK	skin
11	chr16:81475200-81477400	Weak transcription	Ovary	ovary
12	chr16:81475200-81477600	Weak transcription	Esophagus	oesophagus
13	chr16:81475400-81477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:81475600-81477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:81475600-81477000	Bivalent Enhancer	HepG2	liver
16	chr16:81475600-81477400	Enhancers	HSMMtube	muscle
17	chr16:81475800-81477400	Weak transcription	Fetal Brain Female	brain
18	chr16:81475800-81477600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:81476000-81477600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr16:81476000-81477800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr16:81476000-81478000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr16:81476000-81478000	Enhancers	Stomach Mucosa	stomach
23	chr16:81476200-81477600	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:81476200-81477600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr16:81476200-81477600	Enhancers	Brain Substantia Nigra	brain
26	chr16:81476200-81477600	Enhancers	Duodenum Mucosa	Duodenum
27	chr16:81476400-81477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81476400-81477000	Active TSS	Stomach Smooth Muscle	stomach
29	chr16:81476400-81477200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:81476400-81477200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:81476400-81477400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:81476400-81477600	Enhancers	Primary B cells from peripheral blood	blood
33	chr16:81476400-81477600	Enhancers	Colonic Mucosa	Colon
34	chr16:81476400-81477600	Enhancers	Fetal Intestine Large	intestine
35	chr16:81476400-81477800	Flanking Active TSS	A549	lung
36	chr16:81476600-81477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:81476600-81477600	Enhancers	Fetal Thymus	thymus
38	chr16:81476600-81478000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr16:81476800-81477000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr16:81476800-81477200	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:81476800-81477600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:81476800-81477600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:81476800-81477600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:81476800-81477600	Enhancers	Fetal Intestine Small	intestine
45	chr16:81476800-81477600	Enhancers	Placenta	Placenta
46	chr16:81476800-81477600	Weak transcription	Thymus	Thymus
47	chr16:81476800-81477600	Enhancers	GM12878-XiMat	blood
48	chr16:81476800-81477800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr16:81477000-81477200	Enhancers	Stomach Smooth Muscle	stomach
50	chr16:81477000-81477200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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