Variant report

Variant	nsv524025
Chromosome Location	chr16:12009781-12016919
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	chr16:12009658-12010951	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12009977-12010322	K562	blood:	n/a	n/a
3	ATF1	chr16:12009714-12010168	K562	blood:	n/a	n/a
4	ATF2	chr16:12009771-12010305	GM12878	blood:	n/a	n/a
5	ATF2	chr16:12009671-12010205	GM12878	blood:	n/a	n/a
6	ATF3	chr16:12009819-12010191	K562	blood:	n/a	n/a
7	ATF3	chr16:12009863-12010791	A549	lung:	n/a	n/a
8	ATF3	chr16:12009662-12010144	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr16:12009602-12010039	A549	lung:	n/a	n/a
10	ATF3	chr16:12009828-12010230	HepG2	liver:	n/a	n/a
11	ATF3	chr16:12009886-12010165	GM12878	blood:	n/a	n/a
12	BACH1	chr16:12010279-12010878	K562	blood:	n/a	chr16:12010574-12010588
13	BACH1	chr16:12009695-12009830	K562	blood:	n/a	n/a
14	BACH1	chr16:12009639-12010027	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr16:12010242-12010754	H1-hESC	embryonic stem cell:	n/a	chr16:12010574-12010588
16	BCL3	chr16:12009698-12010335	A549	lung:	n/a	chr16:12009769-12009782 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
17	BCL3	chr16:12009498-12010377	A549	lung:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
18	BCLAF1	chr16:12009547-12010311	GM12878	blood:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
19	BCLAF1	chr16:12009482-12010321	K562	blood:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
20	BCLAF1	chr16:12009704-12010225	K562	blood:	n/a	chr16:12009769-12009782 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
21	BCLAF1	chr16:12009551-12010336	GM12878	blood:	n/a	chr16:12009769-12009782 chr16:12009667-12009680 chr16:12009719-12009732 chr16:12010050-12010059 chr16:12009770-12009779 chr16:12009773-12009782 chr16:12009772-12009785
22	BHLHE40	chr16:12009616-12010643	HepG2	liver:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
23	BHLHE40	chr16:12009619-12010324	GM12878	blood:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
24	BHLHE40	chr16:12009628-12010657	K562	blood:	n/a	chr16:12009769-12009785 chr16:12009772-12009788 chr16:12009719-12009735
25	BRCA1	chr16:12009695-12010539	HepG2	liver:	n/a	n/a
26	BRCA1	chr16:12009741-12010897	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr16:12009614-12010892	K562	blood:	n/a	n/a
28	CCNT2	chr16:12008509-12010285	K562	blood:	n/a	chr16:12009857-12009866
29	CEBPB	chr16:12009680-12010283	HepG2	liver:	n/a	n/a
30	CEBPB	chr16:12009656-12010954	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr16:12014945-12015096	A549	lung:	n/a	chr16:12014987-12014998
32	CEBPB	chr16:12014960-12015012	HepG2	liver:	n/a	chr16:12014987-12014998
33	CEBPB	chr16:12010512-12010824	MCF-7	breast:	n/a	n/a
34	CEBPB	chr16:12009861-12010072	K562	blood:	n/a	n/a
35	CEBPB	chr16:12014976-12015000	IMR90	lung:	n/a	chr16:12014987-12014998
36	CEBPB	chr16:12009979-12010282	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:12009742-12010110	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr16:12014912-12015127	K562	blood:	n/a	chr16:12014987-12014998
39	CEBPB	chr16:12009911-12010228	HepG2	liver:	n/a	n/a
40	CEBPD	chr16:12009444-12010289	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:12009547-12010277	HepG2	liver:	n/a	n/a
42	CHD1	chr16:12009810-12009842	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr16:12009532-12010155	GM12878	blood:	n/a	chr16:12009953-12009963
44	CHD2	chr16:12009739-12010201	H1-hESC	embryonic stem cell:	n/a	chr16:12009953-12009963
45	CHD2	chr16:12009273-12010364	K562	blood:	n/a	chr16:12009953-12009963
46	CHD2	chr16:12009617-12010834	HepG2	liver:	n/a	chr16:12009953-12009963
47	CHD2	chr16:12008617-12010822	Hela-S3	cervix:	n/a	chr16:12009953-12009963 chr16:12008970-12008980
48	CHD2	chr16:12009611-12010221	GM12878	blood:	n/a	chr16:12009953-12009963
49	CREB1	chr16:12009733-12010110	A549	lung:	n/a	n/a
50	CREB1	chr16:12009600-12010276	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12010698-12010748	NB4	blood:	n/a
2	chr16:12009839-12009889	HNPCEpiC	eye:	n/a
3	chr16:12009989-12010039	SK-N-SH	brain:	n/a
4	chr16:12009983-12010033	SK-N-SH	brain:	n/a
5	chr16:12012117-12012167	PANC-1	pancreas:	n/a
6	chr16:12009842-12009892	AG09309	skin:	n/a
7	chr16:12012117-12012167	T-47D	breast:	n/a
8	chr16:12010052-12010102	HCM	heart:	n/a
9	chr16:12009839-12009889	HCF	heart:	n/a
10	chr16:12009839-12009889	HCM	heart:	n/a
11	chr16:12010698-12010748	LNCaP	prostate:	n/a
12	chr16:12009842-12009892	HEEpiC	esophagus:	n/a
13	chr16:12011342-12011392	HCT-116	colon:	n/a
14	chr16:12012117-12012167	NT2-D1	testis:	n/a
15	chr16:12011342-12011392	Hepatocyte	liver:	n/a
16	chr16:12010052-12010102	A549	lung:	n/a
17	chr16:12009839-12009889	AG09309	skin:	n/a
18	chr16:12010179-12010229	H1-hESC	embryonic stem cell:	embryo
19	chr16:12009983-12010033	GM12878	blood:	n/a
20	chr16:12009983-12010033	U87	brain:	n/a
21	chr16:12012117-12012167	GM12878	blood:	n/a
22	chr16:12012117-12012167	BE2_C	brain:	n/a
23	chr16:12011342-12011392	HRPEpiC	eye:	n/a
24	chr16:12011342-12011392	Hela-S3	cervix:	n/a
25	chr16:12009839-12009889	ProgFib	skin:	n/a
26	chr16:12009839-12009889	HPAEpiC	pulmonary alveolar:	n/a
27	chr16:12010698-12010748	NT2-D1	testis:	n/a
28	chr16:12010052-12010102	HRPEpiC	eye:	n/a
29	chr16:12009839-12009889	PANC-1	pancreas:	n/a
30	chr16:12012117-12012167	LNCaP	prostate:	n/a
31	chr16:12010179-12010229	GM06990	blood:	n/a
32	chr16:12011342-12011392	HRE	kidney:	n/a
33	chr16:12009842-12009892	PrEC	prostate:	n/a
34	chr16:12010698-12010748	SK-N-SH	brain:	n/a
35	chr16:12011342-12011392	HEEpiC	esophagus:	n/a
36	chr16:12010698-12010748	H1-hESC	embryonic stem cell:	embryo
37	chr16:12010179-12010229	PFSK-1	brain:	n/a
38	chr16:12009983-12010033	HRPEpiC	eye:	n/a
39	chr16:12010179-12010229	GM12892	blood:	n/a
40	chr16:12009842-12009892	K562	blood:	n/a
41	chr16:12010698-12010748	PrEC	prostate:	n/a
42	chr16:12009842-12009892	NHBE	bronchial:	n/a
43	chr16:12012117-12012167	HCF	heart:	n/a
44	chr16:12010698-12010748	HNPCEpiC	eye:	n/a
45	chr16:12009989-12010039	HEEpiC	esophagus:	n/a
46	chr16:12009842-12009892	GM12892	blood:	n/a
47	chr16:12009983-12010033	HEEpiC	esophagus:	n/a
48	chr16:12009983-12010033	HNPCEpiC	eye:	n/a
49	chr16:12010052-12010102	NH-A	brain:	n/a
50	chr16:12009842-12009892	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:11835219..11836957-chr16:12010044..12011553,2	MCF-7	breast:
2	chr16:12010494..12013016-chr16:12016316..12019639,3	MCF-7	breast:
3	chr16:12009392..12009947-chr19:48866680..48867321,2	NB4	blood:
4	chr16:11439089..11440838-chr16:12008767..12010529,2	K562	blood:
5	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
6	chr16:11836330..11838361-chr16:12008535..12010129,2	MCF-7	breast:
7	chr16:12008899..12009895-chr19:48825023..48825708,2	Hela-S3	cervix:
8	chr16:12008780..12010777-chr16:12013125..12015097,2	MCF-7	breast:
9	chr16:12012124..12014555-chr16:12045355..12047902,2	K562	blood:
10	chr16:12007951..12010484-chr17:59476175..59479111,2	MCF-7	breast:
11	chr16:12008911..12011067-chr16:12016765..12018435,3	MCF-7	breast:
12	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
13	chr16:12010494..12013016-chr16:12016316..12019639,3	MCF-7	breast:
14	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
15	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:
16	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
17	chr16:10710065..10712953-chr16:12010240..12012086,2	MCF-7	breast:
18	chr16:12010691..12013114-chr16:12155698..12158691,2	MCF-7	breast:
19	chr10:101379675..101380180-chr16:12009652..12010648,2	Hela-S3	cervix:
20	chr16:11835593..11837984-chr16:12009045..12011349,2	K562	blood:
21	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
22	chr16:12008410..12010246-chr16:15742278..15744306,2	MCF-7	breast:
23	chr16:12008162..12010269-chr16:12142729..12146819,3	K562	blood:
24	chr16:12009346..12010195-chr2:201676259..201676837,2	Hela-S3	cervix:
25	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
26	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
27	chr16:12007765..12009301-chr16:12009316..12010905,2	MCF-7	breast:
28	chr16:12010326..12012796-chr16:12069017..12071833,3	MCF-7	breast:
29	chr16:11943912..11945965-chr16:12008319..12011491,4	MCF-7	breast:
30	chr16:11889469..11891900-chr16:12008639..12011975,4	MCF-7	breast:
31	chr16:12007711..12010113-chr16:12069770..12071913,2	MCF-7	breast:

Variant related genes	Relation type
GSPT1	TF binding region
ENSG00000266163	TF binding region
GSPT1	CpG island
ENSG00000266163	CpG island
ENSG00000103342	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000234719	chromatin interactions
ENSG00000122299	chromatin interactions
ENSG00000048471	chromatin interactions
ENSG00000266163	chromatin interactions
ENSG00000153066	chromatin interactions
ENSG00000263307	chromatin interactions
ENSG00000161558	chromatin interactions
ENSG00000082153	chromatin interactions
ENSG00000260488	chromatin interactions
ENSG00000262420	chromatin interactions
ENSG00000105479	chromatin interactions
ENSG00000171490	chromatin interactions
ENSG00000048462	chromatin interactions
ENSG00000155287	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000175643	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs434762	chr16:12009781-12009782	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374991142	chr16:12009798-12009799	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs372895407	chr16:12009801-12009802	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs540445782	chr16:12009802-12009803	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs375148172	chr16:12009811-12009812	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs370034501	chr16:12009823-12009824	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs373880729	chr16:12009824-12009825	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs371693136	chr16:12009828-12009829	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
9	rs551317838	chr16:12009839-12009840	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
10	rs373369734	chr16:12009849-12009850	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
11	rs374872295	chr16:12009857-12009858	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
12	rs530975284	chr16:12009859-12009860	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
13	rs464174	chr16:12009861-12009862	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554876126	chr16:12009881-12009882	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
15	rs375090883	chr16:12009882-12009883	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
16	rs567776963	chr16:12009930-12009931	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs369628518	chr16:12009937-12009938	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs536410065	chr16:12009956-12009957	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs547224124	chr16:12009983-12009984	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs567123467	chr16:12009997-12009998	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs539336580	chr16:12010003-12010004	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs371924721	chr16:12010017-12010018	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs568681468	chr16:12010107-12010108	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs187453947	chr16:12010110-12010111	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs529177205	chr16:12010134-12010135	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs553857913	chr16:12010136-12010137	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs112641264	chr16:12010140-12010141	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs114416963	chr16:12010141-12010142	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs113679025	chr16:12010142-12010143	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs559922853	chr16:12010164-12010165	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs576677057	chr16:12010202-12010203	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs545684449	chr16:12010211-12010212	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs562476768	chr16:12010212-12010213	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs530792303	chr16:12010218-12010219	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs554623754	chr16:12010261-12010262	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs2075150	chr16:12010270-12010271	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs150805855	chr16:12010282-12010283	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs113304368	chr16:12010337-12010338	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs467106	chr16:12010366-12010367	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191179582	chr16:12010381-12010382	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs4781163	chr16:12010404-12010405	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189156959	chr16:12010422-12010423	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs464017	chr16:12010444-12010445	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142605422	chr16:12010478-12010479	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs4780405	chr16:12010536-12010537	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541966279	chr16:12010577-12010578	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs554560648	chr16:12010583-12010584	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs561723770	chr16:12010608-12010609	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs568020673	chr16:12010629-12010630	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs368733270	chr16:12010640-12010641	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
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	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
Breast cancer	21858162	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12006600-12010400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:12007200-12010400	Active TSS	Right Atrium	heart
3	chr16:12007200-12010600	Active TSS	A549	lung
4	chr16:12007400-12009800	Active TSS	GM12878-XiMat	blood
5	chr16:12007400-12010200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr16:12007400-12010200	Active TSS	HSMMtube	muscle
7	chr16:12007400-12010600	Active TSS	Esophagus	oesophagus
8	chr16:12007400-12010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:12007600-12010000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:12007600-12010400	Active TSS	Left Ventricle	heart
11	chr16:12007600-12010600	Active TSS	Aorta	Aorta
12	chr16:12007800-12010000	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr16:12007800-12010200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:12007800-12010200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:12007800-12010200	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr16:12007800-12010200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:12007800-12010200	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr16:12007800-12010200	Active TSS	Muscle Satellite Cultured Cells	--
19	chr16:12007800-12010200	Active TSS	Fetal Intestine Large	intestine
20	chr16:12007800-12010400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr16:12007800-12010400	Active TSS	Lung	lung
22	chr16:12007800-12010400	Active TSS	Ovary	ovary
23	chr16:12007800-12010600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:12007800-12010600	Active TSS	Pancreas	Pancrea
25	chr16:12008000-12010000	Active TSS	Primary T cells fromperipheralblood	blood
26	chr16:12008000-12010200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr16:12008000-12010200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr16:12008000-12010200	Active TSS	Fetal Muscle Trunk	muscle
29	chr16:12008000-12010200	Active TSS	Placenta	Placenta
30	chr16:12008000-12010200	Active TSS	HMEC	breast
31	chr16:12008000-12010400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr16:12008000-12010400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:12008000-12010400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:12008000-12010400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr16:12008000-12010400	Active TSS	Small Intestine	intestine
36	chr16:12008000-12010600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr16:12008000-12010600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:12008000-12010600	Active TSS	Fetal Intestine Small	intestine
39	chr16:12008000-12010600	Active TSS	Psoas Muscle	Psoas
40	chr16:12008000-12010600	Active TSS	Right Ventricle	heart
41	chr16:12008000-12010800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr16:12008000-12010800	Active TSS	NHLF	lung
43	chr16:12008000-12011000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr16:12008200-12010200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr16:12008200-12010200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr16:12008200-12010200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:12008200-12010200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr16:12008200-12010200	Active TSS	Colonic Mucosa	Colon
49	chr16:12008200-12010200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr16:12008200-12010200	Active TSS	Fetal Thymus	thymus

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