Variant report

Variant	esv3337776
Chromosome Location	chr16:69599501-69601999
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	ARID3A	chr16:69601109-69601556	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:69599135-69599960	HepG2	liver:	n/a	chr16:69599320-69599336 chr16:69599319-69599335
3	ARID3A	chr16:69599668-69599868	K562	blood:	n/a	n/a
4	ATF2	chr16:69599508-69600214	GM12878	blood:	n/a	n/a
5	ATF2	chr16:69599615-69600003	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr16:69599578-69600081	A549	lung:	n/a	chr16:69599856-69599865
7	ATF3	chr16:69599522-69600074	A549	lung:	n/a	chr16:69599856-69599865
8	BACH1	chr16:69599848-69599953	K562	blood:	n/a	n/a
9	BACH1	chr16:69599691-69600019	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr16:69599669-69599843	GM12878	blood:	n/a	chr16:69599683-69599696 chr16:69599831-69599840
11	BCL3	chr16:69599599-69600006	GM12878	blood:	n/a	chr16:69599683-69599696 chr16:69599884-69599893 chr16:69599881-69599890 chr16:69599831-69599840
12	BCL3	chr16:69599537-69600054	A549	lung:	n/a	chr16:69599683-69599696 chr16:69599580-69599593 chr16:69599884-69599893 chr16:69599881-69599890 chr16:69599831-69599840 chr16:69599584-69599597
13	BCL3	chr16:69599585-69600273	GM12878	blood:	n/a	chr16:69600080-69600093 chr16:69599683-69599696 chr16:69599884-69599893 chr16:69599881-69599890 chr16:69600165-69600178 chr16:69599831-69599840
14	BCLAF1	chr16:69600307-69600816	GM12878	blood:	n/a	chr16:69600451-69600464
15	BCLAF1	chr16:69601055-69601515	GM12878	blood:	n/a	n/a
16	BCLAF1	chr16:69599157-69600123	GM12878	blood:	n/a	chr16:69600080-69600093 chr16:69599683-69599696 chr16:69599580-69599593 chr16:69599884-69599893 chr16:69599881-69599890 chr16:69599831-69599840 chr16:69599584-69599597
17	BHLHE40	chr16:69599457-69600223	HepG2	liver:	n/a	chr16:69599877-69599893
18	BHLHE40	chr16:69600544-69600583	GM12878	blood:	n/a	n/a
19	BHLHE40	chr16:69599366-69600223	K562	blood:	n/a	chr16:69599877-69599893
20	BHLHE40	chr16:69599457-69600098	GM12878	blood:	n/a	chr16:69599877-69599893
21	BRCA1	chr16:69599738-69599960	HepG2	liver:	n/a	n/a
22	BRCA1	chr16:69599737-69600037	GM12878	blood:	n/a	n/a
23	BRCA1	chr16:69599649-69599974	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr16:69599419-69600101	K562	blood:	n/a	n/a
25	CCNT2	chr16:69599344-69600839	K562	blood:	n/a	chr16:69600471-69600480 chr16:69599856-69599865 chr16:69600293-69600302
26	CEBPB	chr16:69599692-69599948	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr16:69599415-69599962	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr16:69599630-69600079	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr16:69599656-69600058	A549	lung:	n/a	n/a
30	CEBPB	chr16:69600249-69600406	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr16:69599706-69599847	K562	blood:	n/a	n/a
32	CEBPB	chr16:69599690-69599910	HepG2	liver:	n/a	n/a
33	CEBPB	chr16:69599449-69599717	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:69599460-69599680	HepG2	liver:	n/a	n/a
35	CEBPD	chr16:69599517-69600229	K562	blood:	n/a	n/a
36	CEBPD	chr16:69599404-69600061	HepG2	liver:	n/a	n/a
37	CEBPD	chr16:69599346-69600015	HepG2	liver:	n/a	chr16:69599376-69599387
38	CHD1	chr16:69598826-69601763	GM12878	blood:	n/a	chr16:69600157-69600167
39	CHD1	chr16:69600531-69601176	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr16:69598888-69599874	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr16:69599385-69600898	HepG2	liver:	n/a	chr16:69600157-69600167
42	CHD2	chr16:69599372-69601182	K562	blood:	n/a	chr16:69600157-69600167
43	CHD2	chr16:69599375-69601317	Hela-S3	cervix:	n/a	chr16:69600157-69600167
44	CHD2	chr16:69599519-69601016	GM12878	blood:	n/a	chr16:69600157-69600167
45	CHD2	chr16:69599607-69600242	H1-hESC	embryonic stem cell:	n/a	chr16:69600157-69600167
46	CREB1	chr16:69599611-69599985	A549	lung:	n/a	n/a
47	CREB1	chr16:69599208-69601085	HepG2	liver:	n/a	n/a
48	CREB1	chr16:69600306-69600704	A549	lung:	n/a	n/a
49	CREB1	chr16:69599515-69600055	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr16:69599493-69600413	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:69600533-69600583	AG10803	skin:	n/a
2	chr16:69600791-69600841	GM19239	blood:	n/a
3	chr16:69600533-69600583	HRE	kidney:	n/a
4	chr16:69600788-69600838	HUVEC	blood vessel:	n/a
5	chr16:69600303-69600353	HCF	heart:	n/a
6	chr16:69600533-69600583	ECC-1	luminal epithelium:	n/a
7	chr16:69600533-69600583	HL-60	blood:	n/a
8	chr16:69600441-69600491	Hela-S3	cervix:	n/a
9	chr16:69600441-69600491	HIPEpiC	eye:	n/a
10	chr16:69600441-69600491	NB4	blood:	n/a
11	chr16:69599904-69599954	AoSMC	blood vessel:	n/a
12	chr16:69600032-69600082	ProgFib	skin:	n/a
13	chr16:69600303-69600353	PANC-1	pancreas:	n/a
14	chr16:69600788-69600838	Hela-S3	cervix:	n/a
15	chr16:69600788-69600838	AG09309	skin:	n/a
16	chr16:69600791-69600841	GM06990	blood:	n/a
17	chr16:69600788-69600838	MCF-7	breast:	n/a
18	chr16:69600788-69600838	HMEC	breast:	n/a
19	chr16:69600533-69600583	H1-hESC	embryonic stem cell:	embryo
20	chr16:69600791-69600841	HRCEpiC	kidney:	n/a
21	chr16:69599904-69599954	HEEpiC	esophagus:	n/a
22	chr16:69600032-69600082	Caco-2	colon:	n/a
23	chr16:69600441-69600491	MCF-7	breast:	n/a
24	chr16:69600788-69600838	ovcar-3	ovarian:	n/a
25	chr16:69600533-69600583	A549	lung:	n/a
26	chr16:69600788-69600838	HPAEpiC	pulmonary alveolar:	n/a
27	chr16:69600788-69600838	SK-N-SH_RA	brain:	n/a
28	chr16:69600441-69600491	HUVEC	blood vessel:	n/a
29	chr16:69600533-69600583	PFSK-1	brain:	n/a
30	chr16:69600791-69600841	SKMC	muscle:	n/a
31	chr16:69600441-69600491	Caco-2	colon:	n/a
32	chr16:69600441-69600491	ProgFib	skin:	n/a
33	chr16:69600032-69600082	SK-N-SH	brain:	n/a
34	chr16:69600791-69600841	NB4	blood:	n/a
35	chr16:69600533-69600583	HRCEpiC	kidney:	n/a
36	chr16:69600788-69600838	PANC-1	pancreas:	n/a
37	chr16:69600788-69600838	SAEC	small airway:	n/a
38	chr16:69599904-69599954	U87	brain:	n/a
39	chr16:69600032-69600082	GM12878	blood:	n/a
40	chr16:69600032-69600082	HRCEpiC	kidney:	n/a
41	chr16:69600303-69600353	GM06990	blood:	n/a
42	chr16:69599904-69599954	SK-N-MC	brain:	n/a
43	chr16:69600441-69600491	Jurkat	blood:	n/a
44	chr16:69600303-69600353	NHDF-neo	bronchial:	n/a
45	chr16:69600032-69600082	NT2-D1	testis:	n/a
46	chr16:69600441-69600491	HepG2	liver:	n/a
47	chr16:69600303-69600353	U87	brain:	n/a
48	chr16:69599904-69599954	AG10803	skin:	n/a
49	chr16:69600533-69600583	GM12891	blood:	n/a
50	chr16:69600032-69600082	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:69600367..69602326-chr16:69711711..69713637,2	K562	blood:
2	chr16:69601806..69604778-chr16:69741998..69744768,2	K562	blood:
3	chr12:56435688..56436591-chr16:69599703..69600348,2	Hela-S3	cervix:
4	chr16:69599740..69600363-chr8:37962522..37963242,2	Hela-S3	cervix:
5	chr16:69456628..69460851-chr16:69598482..69601931,4	MCF-7	breast:
6	chr16:69361349..69363813-chr16:69599663..69601877,2	K562	blood:
7	chr16:69372156..69375049-chr16:69597918..69599704,2	K562	blood:
8	chr16:69598159..69601662-chr16:69788408..69790769,3	K562	blood:
9	chr16:69457237..69459987-chr16:69598210..69601258,3	K562	blood:
10	chr16:69601805..69603372-chr16:69624249..69627246,2	K562	blood:
11	chr16:69361620..69363547-chr16:69601564..69603136,2	MCF-7	breast:
12	chr16:69599296..69599970-chr2:10260571..10261353,2	Hela-S3	cervix:
13	chr16:69372039..69374282-chr16:69599162..69601427,3	MCF-7	breast:
14	chr16:69457747..69460846-chr16:69598845..69601292,3	MCF-7	breast:
15	chr16:69598363..69600435-chr16:69788003..69790759,3	MCF-7	breast:
16	chr11:62608480..62609642-chr16:69599026..69599940,3	Hela-S3	cervix:
17	chr1:151964894..151965453-chr16:69599856..69600428,2	Hela-S3	cervix:
18	chr16:69399834..69402681-chr16:69599587..69601145,2	MCF-7	breast:
19	chr16:69418062..69420388-chr16:69599340..69603002,4	K562	blood:
20	chr16:69419330..69422413-chr16:69599537..69603088,3	MCF-7	breast:
21	chr16:69418494..69421401-chr16:69598786..69600485,2	K562	blood:
22	chr14:20937149..20937984-chr16:69599848..69600473,2	Hela-S3	cervix:
23	chr16:69382266..69384558-chr16:69599688..69602481,2	MCF-7	breast:
24	chr16:69599623..69601716-chr16:69757663..69760565,3	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1538	chr16:69599711-69599733	MIMAT0007400

Variant related genes	Relation type
MIR1538	TF binding region
NFAT5	TF binding region
MIR1538	CpG island
NFAT5	CpG island
ENSG00000132604	chromatin interactions
ENSG00000261602	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000181019	chromatin interactions
ENSG00000238683	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000213380	chromatin interactions
ENSG00000157315	chromatin interactions
ENSG00000141101	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000132603	chromatin interactions
ENSG00000103018	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112920827	chr16:69599513-69599514	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs573194894	chr16:69599567-69599568	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs570298997	chr16:69599580-69599581	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs540601295	chr16:69599583-69599584	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs565271901	chr16:69599658-69599659	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs577380414	chr16:69599664-69599665	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs571960984	chr16:69599670-69599671	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs187429918	chr16:69599675-69599676	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs372974312	chr16:69599676-69599677	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs563426707	chr16:69599701-69599702	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs376409664	chr16:69599728-69599729	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs191393746	chr16:69599735-69599736	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs549049579	chr16:69599751-69599752	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs8048032	chr16:69599803-69599804	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528101195	chr16:69599809-69599810	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs373825618	chr16:69599820-69599821	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs532047133	chr16:69599853-69599854	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs550763183	chr16:69599895-69599896	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs569067217	chr16:69599904-69599905	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs183762093	chr16:69599917-69599918	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs554993848	chr16:69599943-69599944	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs552981185	chr16:69599948-69599949	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs149738655	chr16:69599949-69599950	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs567139680	chr16:69599951-69599952	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs199724132	chr16:69599955-69599956	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs200663961	chr16:69599957-69599958	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs533956467	chr16:69599967-69599968	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs558964500	chr16:69600060-69600061	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs565115506	chr16:69600088-69600089	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs577420980	chr16:69600148-69600149	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs544679513	chr16:69600162-69600163	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs368808924	chr16:69600165-69600166	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs556687502	chr16:69600167-69600168	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs373489732	chr16:69600198-69600199	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs376517669	chr16:69600241-69600242	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs373280302	chr16:69600243-69600244	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs377326271	chr16:69600255-69600256	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs199821387	chr16:69600297-69600298	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs542783284	chr16:69600301-69600302	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs186887156	chr16:69600303-69600304	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs540254351	chr16:69600313-69600314	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs142292515	chr16:69600335-69600336	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs528351396	chr16:69600407-69600408	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs539867243	chr16:69600414-69600415	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs564493520	chr16:69600451-69600452	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs532086765	chr16:69600472-69600473	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs191611527	chr16:69600475-69600476	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs550300914	chr16:69600488-69600489	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs568608362	chr16:69600584-69600585	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs34233958	chr16:69600593-69600594	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	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
Chordoma	18071362	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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69598000-69601600	Active TSS	Placenta Amnion	Placenta Amnion
2	chr16:69598000-69604600	Active TSS	GM12878-XiMat	blood
3	chr16:69598200-69602400	Active TSS	NHDF-Ad	bronchial
4	chr16:69598400-69599600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr16:69598400-69600800	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr16:69598400-69601000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr16:69598400-69601200	Active TSS	Fetal Brain Female	brain
8	chr16:69598400-69601200	Active TSS	Stomach Smooth Muscle	stomach
9	chr16:69598400-69601800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr16:69598400-69601800	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr16:69598400-69601800	Active TSS	Right Atrium	heart
12	chr16:69598400-69602000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr16:69598400-69602000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr16:69598400-69602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:69598400-69602800	Active TSS	A549	lung
16	chr16:69598600-69600000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:69598600-69600800	Active TSS	Primary T cells fromperipheralblood	blood
18	chr16:69598600-69600800	Active TSS	Fetal Thymus	thymus
19	chr16:69598600-69601000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:69598600-69601000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:69598600-69601000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr16:69598600-69601000	Active TSS	Thymus	Thymus
23	chr16:69598600-69601200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr16:69598600-69601400	Active TSS	Duodenum Mucosa	Duodenum
25	chr16:69598600-69601400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr16:69598600-69601400	Active TSS	Fetal Lung	lung
27	chr16:69598600-69601600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr16:69598600-69601600	Active TSS	HMEC	breast
29	chr16:69598600-69601800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:69598600-69601800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:69598600-69602200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:69598600-69602400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:69598600-69602400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:69598600-69602400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:69598600-69602400	Active TSS	K562	blood
36	chr16:69598600-69602600	Active TSS	HSMMtube	muscle
37	chr16:69598600-69603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:69598800-69599600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr16:69598800-69600000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:69598800-69600800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:69598800-69601000	Active TSS	Brain Angular Gyrus	brain
42	chr16:69598800-69601000	Active TSS	Fetal Brain Male	brain
43	chr16:69598800-69601000	Active TSS	Fetal Muscle Leg	muscle
44	chr16:69598800-69601000	Active TSS	Psoas Muscle	Psoas
45	chr16:69598800-69601000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr16:69598800-69601200	Active TSS	Brain Anterior Caudate	brain
47	chr16:69598800-69601200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr16:69598800-69601200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr16:69598800-69601400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:69598800-69601400	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links