Variant report

Variant	esv3506214
Chromosome Location	chr16:30670001-30672099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:817)
CpG islands
(count:427)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30669252-30670476	HepG2	liver:	n/a	chr16:30669323-30669331
2	ATF1	chr16:30669209-30670487	K562	blood:	n/a	n/a
3	ATF2	chr16:30671633-30672435	GM12878	blood:	n/a	n/a
4	ATF2	chr16:30668855-30670516	GM12878	blood:	n/a	n/a
5	ATF2	chr16:30669090-30670455	GM12878	blood:	n/a	n/a
6	BCL3	chr16:30671981-30672357	GM12878	blood:	n/a	n/a
7	BCL3	chr16:30668717-30670196	A549	lung:	n/a	chr16:30669306-30669319 chr16:30669957-30669965 chr16:30669659-30669668
8	BCLAF1	chr16:30670915-30671739	GM12878	blood:	n/a	n/a
9	BCLAF1	chr16:30669627-30670834	GM12878	blood:	n/a	chr16:30670798-30670811 chr16:30669957-30669965 chr16:30670615-30670628 chr16:30669659-30669668
10	BCLAF1	chr16:30671930-30672532	GM12878	blood:	n/a	n/a
11	BCLAF1	chr16:30668970-30670605	GM12878	blood:	n/a	chr16:30669306-30669319 chr16:30669957-30669965 chr16:30669659-30669668
12	BHLHE40	chr16:30671852-30672346	GM12878	blood:	n/a	n/a
13	BHLHE40	chr16:30669030-30670613	GM12878	blood:	n/a	n/a
14	BHLHE40	chr16:30668761-30670596	K562	blood:	n/a	n/a
15	BHLHE40	chr16:30669090-30670067	HepG2	liver:	n/a	n/a
16	BRCA1	chr16:30669040-30670468	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr16:30669929-30670237	GM12878	blood:	n/a	n/a
18	CBX3	chr16:30668716-30670662	K562	blood:	n/a	n/a
19	CCNT2	chr16:30670397-30671094	K562	blood:	n/a	n/a
20	CCNT2	chr16:30669063-30670169	K562	blood:	n/a	n/a
21	CEBPB	chr16:30668811-30670242	A549	lung:	n/a	n/a
22	CEBPB	chr16:30668874-30670388	K562	blood:	n/a	n/a
23	CEBPB	chr16:30669188-30670155	K562	blood:	n/a	n/a
24	CEBPB	chr16:30669264-30670475	GM12878	blood:	n/a	n/a
25	CEBPB	chr16:30668905-30670356	A549	lung:	n/a	n/a
26	CEBPB	chr16:30668984-30670163	HepG2	liver:	n/a	n/a
27	CEBPB	chr16:30668880-30670638	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr16:30669878-30670122	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:30669286-30670257	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr16:30669817-30670162	A549	lung:	n/a	n/a
31	CEBPB	chr16:30668892-30670175	IMR90	lung:	n/a	n/a
32	CEBPB	chr16:30669124-30670165	HepG2	liver:	n/a	n/a
33	CEBPB	chr16:30670388-30670501	HepG2	liver:	n/a	n/a
34	CEBPD	chr16:30670343-30670751	HepG2	liver:	n/a	n/a
35	CEBPD	chr16:30669516-30670296	HepG2	liver:	n/a	n/a
36	CEBPD	chr16:30670888-30671262	HepG2	liver:	n/a	n/a
37	CEBPD	chr16:30669512-30670056	K562	blood:	n/a	n/a
38	CEBPD	chr16:30669092-30670153	HepG2	liver:	n/a	n/a
39	CHD1	chr16:30668947-30672210	GM12878	blood:	n/a	chr16:30670030-30670037 chr16:30670024-30670034
40	CHD1	chr16:30670172-30670202	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr16:30669270-30670301	H1-hESC	embryonic stem cell:	n/a	chr16:30670030-30670037 chr16:30670024-30670034
42	CHD2	chr16:30669096-30670501	GM12878	blood:	n/a	chr16:30670030-30670037 chr16:30670024-30670034
43	CHD2	chr16:30669245-30670006	HepG2	liver:	n/a	n/a
44	CHD2	chr16:30672007-30672360	GM12878	blood:	n/a	n/a
45	CHD2	chr16:30669011-30670699	Hela-S3	cervix:	n/a	chr16:30670030-30670037 chr16:30670024-30670034
46	CREB1	chr16:30669133-30670215	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr16:30668904-30671215	A549	lung:	n/a	n/a
48	CREB1	chr16:30668912-30670826	GM12878	blood:	n/a	n/a
49	CREB1	chr16:30669151-30670667	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr16:30669043-30670806	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30671698-30671748	AoSMC	blood vessel:	n/a
2	chr16:30671749-30671799	HUVEC	blood vessel:	n/a
3	chr16:30670571-30670621	ovcar-3	ovarian:	n/a
4	chr16:30672051-30672101	HAEpiC	amniotic membrane:	n/a
5	chr16:30670728-30670778	BJ	skin:	n/a
6	chr16:30671644-30671694	U87	brain:	n/a
7	chr16:30671749-30671799	HMEC	breast:	n/a
8	chr16:30671749-30671799	NH-A	brain:	n/a
9	chr16:30670728-30670778	NB4	blood:	n/a
10	chr16:30672051-30672101	HCT-116	colon:	n/a
11	chr16:30670378-30670428	Hela-S3	cervix:	n/a
12	chr16:30671644-30671694	HEK293	kidney:	embryo
13	chr16:30671698-30671748	SKMC	muscle:	n/a
14	chr16:30672051-30672101	T-47D	breast:	n/a
15	chr16:30670571-30670621	HRE	kidney:	n/a
16	chr16:30670571-30670621	SKMC	muscle:	n/a
17	chr16:30670378-30670428	SKMC	muscle:	n/a
18	chr16:30672051-30672101	NHDF-neo	bronchial:	n/a
19	chr16:30671644-30671694	SKMC	muscle:	n/a
20	chr16:30670378-30670428	PANC-1	pancreas:	n/a
21	chr16:30670571-30670621	Jurkat	blood:	n/a
22	chr16:30670571-30670621	AoSMC	blood vessel:	n/a
23	chr16:30670378-30670428	Caco-2	colon:	n/a
24	chr16:30671749-30671799	K562	blood:	n/a
25	chr16:30670378-30670428	HEEpiC	esophagus:	n/a
26	chr16:30670728-30670778	AG04449	skin:	fetal
27	chr16:30670728-30670778	HMEC	breast:	n/a
28	chr16:30672051-30672101	ECC-1	luminal epithelium:	n/a
29	chr16:30670571-30670621	NHBE	bronchial:	n/a
30	chr16:30672051-30672101	HIPEpiC	eye:	n/a
31	chr16:30670378-30670428	GM12878	blood:	n/a
32	chr16:30671749-30671799	AG04449	skin:	fetal
33	chr16:30671644-30671694	SK-N-SH_RA	brain:	n/a
34	chr16:30670378-30670428	AoSMC	blood vessel:	n/a
35	chr16:30671644-30671694	HepG2	liver:	n/a
36	chr16:30670378-30670428	RPTEC	kidney:	n/a
37	chr16:30671749-30671799	MCF-7	breast:	n/a
38	chr16:30671749-30671799	HEEpiC	esophagus:	n/a
39	chr16:30672051-30672101	NHBE	bronchial:	n/a
40	chr16:30672051-30672101	BJ	skin:	n/a
41	chr16:30670378-30670428	HUVEC	blood vessel:	n/a
42	chr16:30672051-30672101	GM19239	blood:	n/a
43	chr16:30671644-30671694	HMEC	breast:	n/a
44	chr16:30670571-30670621	Hela-S3	cervix:	n/a
45	chr16:30671698-30671748	HCM	heart:	n/a
46	chr16:30671644-30671694	SK-N-SH	brain:	n/a
47	chr16:30671749-30671799	NB4	blood:	n/a
48	chr16:30671749-30671799	HEK293	kidney:	embryo
49	chr16:30671749-30671799	A549	lung:	n/a
50	chr16:30672051-30672101	IMR90	lung:	fetal

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30670913..30673780-chr16:30684113..30687198,4	MCF-7	breast:
2	chr16:30537270..30540938-chr16:30667776..30670897,3	K562	blood:
3	chr16:30671278..30673717-chr16:30785023..30788710,4	MCF-7	breast:
4	chr16:30626410..30628513-chr16:30668495..30670548,2	K562	blood:
5	chr16:30670863..30673913-chr16:30759873..30762559,3	MCF-7	breast:
6	chr16:30568254..30570090-chr16:30667629..30670948,3	K562	blood:
7	chr16:30454464..30457358-chr16:30669384..30671896,3	K562	blood:
8	chr16:30365632..30367992-chr16:30667854..30670358,2	MCF-7	breast:
9	chr16:30669682..30670192-chr6:32939798..32940431,2	Hela-S3	cervix:
10	chr16:30668245..30671978-chr16:30750248..30754870,9	MCF-7	breast:
11	chr16:30669439..30671139-chr16:30758137..30761003,2	K562	blood:
12	chr16:30666829..30670641-chr16:30932372..30935048,3	K562	blood:
13	chr16:30669453..30671146-chr16:30759344..30760999,2	MCF-7	breast:
14	chr16:30581261..30583067-chr16:30670889..30672636,2	K562	blood:
15	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
16	chr16:30595796..30598242-chr16:30667877..30670406,3	MCF-7	breast:
17	chr16:30667507..30674392-chr16:30704170..30712522,40	MCF-7	breast:
18	chr16:30669272..30672997-chr16:30933501..30936286,4	MCF-7	breast:
19	chr16:30389121..30392604-chr16:30668490..30671197,4	K562	blood:
20	chr16:30535862..30538141-chr16:30667987..30671632,3	K562	blood:
21	chr16:30583091..30585681-chr16:30668404..30671562,3	K562	blood:
22	chr16:30669411..30670219-chr6:26156502..26157804,4	Hela-S3	cervix:
23	chr16:30534881..30538738-chr16:30669014..30672874,5	MCF-7	breast:
24	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:
25	chr10:118764190..118764920-chr16:30669483..30670147,2	Hela-S3	cervix:
26	chr16:30670376..30671103-chr16:30704925..30705538,2	K562	blood:
27	chr16:30667897..30670733-chr16:30759554..30761748,2	K562	blood:
28	chr16:30665738..30673826-chr16:30707321..30713630,33	K562	blood:
29	chr11:118972613..118973169-chr16:30669774..30670547,2	Hela-S3	cervix:
30	chr1:154946241..154946985-chr16:30669609..30670152,2	Hela-S3	cervix:
31	chr16:30625309..30627910-chr16:30669048..30671707,2	K562	blood:
32	chr16:30134421..30136289-chr16:30669224..30670756,2	K562	blood:
33	chr16:30581443..30584852-chr16:30667885..30670811,3	MCF-7	breast:
34	chr16:30670122..30670738-chr16:30709424..30710015,2	MCF-7	breast:
35	chr16:30635973..30637940-chr16:30671557..30674235,2	MCF-7	breast:
36	chr16:30669667..30670243-chr19:41221082..41221648,2	Hela-S3	cervix:
37	chr16:30669722..30670291-chr9:130565565..130566502,2	Hela-S3	cervix:
38	chr16:30439350..30443248-chr16:30667549..30670129,3	MCF-7	breast:
39	chr16:30455687..30457449-chr16:30670431..30673736,3	MCF-7	breast:
40	chr16:30669616..30672714-chr16:30750078..30754286,5	MCF-7	breast:
41	chr16:30626674..30628950-chr16:30669542..30671226,2	MCF-7	breast:
42	chr16:30382922..30384905-chr16:30669904..30671484,2	MCF-7	breast:
43	chr16:29815810..29818051-chr16:30669124..30671964,2	MCF-7	breast:
44	chr16:30671487..30673418-chr16:30969039..30970586,2	K562	blood:
45	chr16:30455343..30457757-chr16:30668968..30672214,3	MCF-7	breast:
46	chr16:30669436..30672389-chr17:73774530..73776217,2	MCF-7	breast:
47	chr16:30667783..30674540-chr16:30707310..30714065,38	K562	blood:
48	chr16:30668135..30670286-chr16:30783767..30786640,2	K562	blood:
49	chr16:30670901..30672764-chr20:45946982..45948705,2	MCF-7	breast:
50	chr16:30438691..30441643-chr16:30669537..30671666,4	MCF-7	breast:

No data

Variant related genes	Relation type
FBRS	TF binding region
FBRS	CpG island
ENSG00000260219	chromatin interactions
ENSG00000261680	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000172269	chromatin interactions
ENSG00000239791	chromatin interactions
ENSG00000172375	chromatin interactions
ENSG00000183604	chromatin interactions
ENSG00000102882	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000260852	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000260899	chromatin interactions
ENSG00000222287	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000261459	chromatin interactions
ENSG00000179958	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000169955	chromatin interactions
ENSG00000229809	chromatin interactions
ENSG00000235560	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000260869	chromatin interactions
ENSG00000252074	chromatin interactions
ENSG00000169217	chromatin interactions
ENSG00000197162	chromatin interactions
ENSG00000260678	chromatin interactions
ENSG00000169957	chromatin interactions
ENSG00000187164	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000260167	chromatin interactions
ENSG00000156853	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000099381	chromatin interactions
ENSG00000169951	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000180096	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558209783	chr16:30670040-30670041	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
2	rs542896413	chr16:30670053-30670054	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
3	rs561088676	chr16:30670057-30670058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
4	rs2972809	chr16:30670074-30670075	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577391112	chr16:30670121-30670122	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
6	rs540414631	chr16:30670126-30670127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
7	rs565407205	chr16:30670140-30670141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
8	rs532499145	chr16:30670155-30670156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
9	rs370629883	chr16:30670189-30670190	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
10	rs530414744	chr16:30670195-30670196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
11	rs374016485	chr16:30670198-30670199	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
12	rs548827566	chr16:30670281-30670282	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
13	rs530333113	chr16:30670289-30670290	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
14	rs147772766	chr16:30670291-30670292	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
15	rs376146345	chr16:30670301-30670302	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs566805290	chr16:30670321-30670322	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
17	rs534149394	chr16:30670345-30670346	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
18	rs369845267	chr16:30670354-30670355	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
19	rs181636414	chr16:30670370-30670371	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
20	rs571359141	chr16:30670381-30670382	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
21	rs538313148	chr16:30670398-30670399	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs556918158	chr16:30670454-30670455	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
23	rs575283861	chr16:30670487-30670488	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
24	rs113683403	chr16:30670504-30670505	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
25	rs536565861	chr16:30670516-30670517	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
26	rs554938586	chr16:30670523-30670524	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
27	rs371315821	chr16:30670563-30670564	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs573153108	chr16:30670652-30670653	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs540469273	chr16:30670701-30670702	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs374084809	chr16:30670713-30670714	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
31	rs558465134	chr16:30670879-30670880	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs2972810	chr16:30670887-30670888	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186108232	chr16:30671148-30671149	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
34	rs562926125	chr16:30671157-30671158	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
35	rs530067470	chr16:30671208-30671209	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
36	rs541797694	chr16:30671232-30671233	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
37	rs560457612	chr16:30671234-30671235	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs527968676	chr16:30671284-30671285	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
39	rs190927763	chr16:30671311-30671312	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
40	rs570909178	chr16:30671315-30671316	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs532255891	chr16:30671326-30671327	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
42	rs550371265	chr16:30671433-30671434	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
43	rs376931675	chr16:30671439-30671440	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
44	rs536282607	chr16:30671445-30671446	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
45	rs554603866	chr16:30671498-30671499	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
46	rs566815767	chr16:30671507-30671508	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
47	rs35629860	chr16:30671532-30671533	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs145091849	chr16:30671557-30671558	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs542529951	chr16:30671561-30671562	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
50	rs183450035	chr16:30671567-30671568	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30668600-30672800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30668800-30671000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:30668800-30671000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:30668800-30671200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr16:30668800-30671400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:30668800-30671400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:30668800-30671400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:30668800-30671400	Active TSS	Fetal Brain Female	brain
9	chr16:30668800-30671400	Active TSS	Psoas Muscle	Psoas
10	chr16:30668800-30671800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:30668800-30672000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:30668800-30672000	Active TSS	Gastric	stomach
13	chr16:30669000-30670400	Active TSS	Fetal Heart	heart
14	chr16:30669000-30670800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr16:30669000-30671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr16:30669000-30671000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:30669000-30671000	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr16:30669000-30671200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr16:30669000-30671200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:30669000-30671200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr16:30669000-30671200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:30669000-30671200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:30669000-30671200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:30669000-30671200	Active TSS	Brain Germinal Matrix	brain
25	chr16:30669000-30671400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:30669000-30671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:30669000-30671400	Active TSS	Brain Cingulate Gyrus	brain
28	chr16:30669000-30671400	Active TSS	Brain Hippocampus Middle	brain
29	chr16:30669000-30671600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:30669000-30671600	Active TSS	Fetal Kidney	kidney
31	chr16:30669000-30671600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr16:30669000-30671600	Active TSS	Spleen	Spleen
33	chr16:30669000-30671600	Active TSS	Osteobl	bone
34	chr16:30669000-30671800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:30669000-30671800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr16:30669000-30671800	Active TSS	Left Ventricle	heart
37	chr16:30669000-30671800	Active TSS	Rectal Smooth Muscle	rectum
38	chr16:30669000-30671800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr16:30669000-30671800	Active TSS	A549	lung
40	chr16:30669000-30671800	Active TSS	HSMMtube	muscle
41	chr16:30669000-30672000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:30669000-30672200	Active TSS	Esophagus	oesophagus
43	chr16:30669000-30672200	Active TSS	Small Intestine	intestine
44	chr16:30669200-30670200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr16:30669200-30670400	Active TSS	Fetal Brain Male	brain
46	chr16:30669200-30670800	Active TSS	Primary hematopoietic stem cells	blood
47	chr16:30669200-30671000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:30669200-30671000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:30669200-30671200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr16:30669200-30671200	Active TSS	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links