Variant report

Variant	esv3326361
Chromosome Location	chr16:46917676-46920224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:494)
CpG islands
(count:733)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:46917760-46918018	HepG2	liver:	n/a	n/a
2	ATF3	chr16:46917665-46918009	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr16:46917770-46917975	K562	blood:	n/a	n/a
4	ATF3	chr16:46918014-46918261	K562	blood:	n/a	chr16:46918129-46918138
5	ATF3	chr16:46917722-46918064	K562	blood:	n/a	n/a
6	ATF3	chr16:46917639-46917984	A549	lung:	n/a	n/a
7	BACH1	chr16:46917761-46918204	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr16:46917861-46918409	GM12878	blood:	n/a	chr16:46918169-46918182 chr16:46918136-46918144 chr16:46918170-46918183
9	BCLAF1	chr16:46917973-46918280	GM12878	blood:	n/a	chr16:46918169-46918182 chr16:46918136-46918144 chr16:46918170-46918183
10	BHLHE40	chr16:46917781-46918258	K562	blood:	n/a	n/a
11	BHLHE40	chr16:46917933-46918311	GM12878	blood:	n/a	n/a
12	BHLHE40	chr16:46917467-46918273	HepG2	liver:	n/a	n/a
13	BRCA1	chr16:46917983-46918177	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr16:46917687-46918227	K562	blood:	n/a	n/a
15	CCNT2	chr16:46917551-46918774	K562	blood:	n/a	chr16:46918022-46918031
16	CEBPB	chr16:46917745-46917918	K562	blood:	n/a	n/a
17	CEBPB	chr16:46917701-46918039	HepG2	liver:	n/a	n/a
18	CEBPB	chr16:46917299-46918073	HepG2	liver:	n/a	chr16:46917419-46917431
19	CEBPB	chr16:46917713-46918021	K562	blood:	n/a	n/a
20	CEBPB	chr16:46917685-46918042	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr16:46917649-46918058	MCF-7	breast:	n/a	n/a
22	CEBPB	chr16:46917705-46918076	K562	blood:	n/a	n/a
23	CEBPB	chr16:46917668-46918270	HepG2	liver:	n/a	n/a
24	CEBPB	chr16:46917310-46918417	HepG2	liver:	n/a	chr16:46917419-46917431
25	CEBPB	chr16:46918409-46918455	IMR90	lung:	n/a	n/a
26	CEBPB	chr16:46917686-46918398	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr16:46918395-46918439	HepG2	liver:	n/a	n/a
28	CEBPB	chr16:46920044-46920253	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:46917702-46918021	A549	lung:	n/a	n/a
30	CEBPB	chr16:46917700-46918059	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr16:46920002-46920343	IMR90	lung:	n/a	n/a
32	CEBPB	chr16:46917692-46918078	IMR90	lung:	n/a	n/a
33	CEBPB	chr16:46917710-46918056	A549	lung:	n/a	n/a
34	CEBPB	chr16:46917552-46918125	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPD	chr16:46917719-46918417	HepG2	liver:	n/a	n/a
36	CEBPD	chr16:46917651-46918558	HepG2	liver:	n/a	n/a
37	CHD2	chr16:46917792-46917866	GM12878	blood:	n/a	n/a
38	CHD2	chr16:46917798-46918550	Hela-S3	cervix:	n/a	chr16:46918130-46918140
39	CHD2	chr16:46918150-46918224	GM12878	blood:	n/a	n/a
40	CHD2	chr16:46917760-46918232	HepG2	liver:	n/a	chr16:46918130-46918140
41	CHD2	chr16:46918435-46918448	GM12878	blood:	n/a	n/a
42	CREB1	chr16:46917875-46918320	A549	lung:	n/a	n/a
43	CREB1	chr16:46916064-46919268	HepG2	liver:	n/a	n/a
44	CREB1	chr16:46917913-46918363	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr16:46917659-46918420	K562	blood:	n/a	n/a
46	CREB1	chr16:46917723-46918403	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr16:46917640-46918440	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr16:46917657-46918509	A549	lung:	n/a	n/a
49	CTCF	chr16:46917901-46917966	GM12891	blood:	n/a	n/a
50	CTCF	chr16:46918020-46918170	Caco-2	colon:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:46918160-46918210	HMEC	breast:	n/a
2	chr16:46918160-46918210	HMEC	breast:	n/a
3	chr16:46919075-46919125	ProgFib	skin:	n/a
4	chr16:46918433-46918483	U87	brain:	n/a
5	chr16:46918433-46918483	T-47D	breast:	n/a
6	chr16:46919021-46919071	GM12891	blood:	n/a
7	chr16:46917883-46917933	AG04449	skin:	fetal
8	chr16:46919075-46919125	PANC-1	pancreas:	n/a
9	chr16:46920075-46920125	T-47D	breast:	n/a
10	chr16:46918433-46918483	SK-N-SH	brain:	n/a
11	chr16:46919194-46919244	AG09319	gingival:	n/a
12	chr16:46917883-46917933	HRPEpiC	eye:	n/a
13	chr16:46918233-46918283	HCPEpiC	choroid plexus:	n/a
14	chr16:46917883-46917933	NHDF-neo	bronchial:	n/a
15	chr16:46918956-46919006	AG09319	gingival:	n/a
16	chr16:46917888-46917938	GM19239	blood:	n/a
17	chr16:46919021-46919071	HCPEpiC	choroid plexus:	n/a
18	chr16:46918160-46918210	ECC-1	luminal epithelium:	n/a
19	chr16:46917681-46917731	AG10803	skin:	n/a
20	chr16:46919075-46919125	HCM	heart:	n/a
21	chr16:46918160-46918210	HIPEpiC	eye:	n/a
22	chr16:46917681-46917731	HAEpiC	amniotic membrane:	n/a
23	chr16:46920075-46920125	RPTEC	kidney:	n/a
24	chr16:46918433-46918483	HUVEC	blood vessel:	n/a
25	chr16:46917888-46917938	NT2-D1	testis:	n/a
26	chr16:46918160-46918210	HAEpiC	amniotic membrane:	n/a
27	chr16:46919021-46919071	AG04450	lung:	fetal
28	chr16:46919194-46919244	HAEpiC	amniotic membrane:	n/a
29	chr16:46917681-46917731	BE2_C	brain:	n/a
30	chr16:46918233-46918283	HRE	kidney:	n/a
31	chr16:46920075-46920125	Hepatocyte	liver:	n/a
32	chr16:46917681-46917731	BJ	skin:	n/a
33	chr16:46917681-46917731	NHBE	bronchial:	n/a
34	chr16:46917888-46917938	NH-A	brain:	n/a
35	chr16:46918956-46919006	AoSMC	blood vessel:	n/a
36	chr16:46918433-46918483	HEK293	kidney:	embryo
37	chr16:46919112-46919162	LNCaP	prostate:	n/a
38	chr16:46918956-46919006	HPAEpiC	pulmonary alveolar:	n/a
39	chr16:46918160-46918210	SK-N-SH	brain:	n/a
40	chr16:46919112-46919162	SK-N-SH	brain:	n/a
41	chr16:46919021-46919071	SKMC	muscle:	n/a
42	chr16:46920075-46920125	GM19239	blood:	n/a
43	chr16:46918160-46918210	GM12892	blood:	n/a
44	chr16:46918433-46918483	AG04449	skin:	fetal
45	chr16:46917888-46917938	HRPEpiC	eye:	n/a
46	chr16:46917681-46917731	HCPEpiC	choroid plexus:	n/a
47	chr16:46919112-46919162	ProgFib	skin:	n/a
48	chr16:46918160-46918210	AG04450	lung:	fetal
49	chr16:46917681-46917731	Hepatocyte	liver:	n/a
50	chr16:46919021-46919071	HCF	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46916007..46917928-chr16:46919979..46921962,2	MCF-7	breast:
2	chr16:46917387..46917972-chr8:38265324..38266247,2	Hela-S3	cervix:
3	chr16:46917403..46918059-chr9:134131479..134132405,2	Hela-S3	cervix:
4	chr16:46917473..46918075-chr17:77812758..77813708,2	HCT-116	colon:
5	chr16:46916007..46917928-chr16:46919979..46921962,2	MCF-7	breast:
6	chr16:46895641..46897768-chr16:46916063..46918079,2	K562	blood:
7	chr16:46822185..46825488-chr16:46917726..46919426,3	K562	blood:
8	chr16:46898009..46901625-chr16:46916085..46918224,4	MCF-7	breast:
9	chr16:46916414..46917983-chr16:46954082..46956744,2	K562	blood:

No data

Variant related genes	Relation type
GPT2	TF binding region
GPT2	CpG island
ENSG00000260782	chromatin interactions
ENSG00000141582	chromatin interactions
ENSG00000140795	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568390675	chr16:46917777-46917778	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs113103304	chr16:46917778-46917779	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs149229269	chr16:46917801-46917802	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376367794	chr16:46917802-46917803	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs572166626	chr16:46917840-46917841	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs545836678	chr16:46917907-46917908	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs372119853	chr16:46917910-46917911	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs80037534	chr16:46917932-46917933	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs376742632	chr16:46917947-46917948	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567958545	chr16:46918014-46918015	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs370753787	chr16:46918015-46918016	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs543060416	chr16:46918065-46918066	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs562827259	chr16:46918098-46918099	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs530386293	chr16:46918114-46918115	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs201069337	chr16:46918117-46918118	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373208914	chr16:46918118-46918119	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs542180351	chr16:46918121-46918122	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs560690094	chr16:46918168-46918169	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs527892889	chr16:46918182-46918183	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538109236	chr16:46918281-46918282	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs564619972	chr16:46918413-46918414	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs151287978	chr16:46918415-46918416	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs550230687	chr16:46918438-46918439	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs568478388	chr16:46918476-46918477	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs535709537	chr16:46918497-46918498	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs547376009	chr16:46918501-46918502	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565827152	chr16:46918517-46918518	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539295563	chr16:46918524-46918525	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs578140583	chr16:46918535-46918536	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369137448	chr16:46918543-46918544	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs200969659	chr16:46918582-46918583	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs375068227	chr16:46918613-46918614	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536765848	chr16:46918622-46918623	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200001793	chr16:46918635-46918636	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs573559634	chr16:46918696-46918697	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs542471724	chr16:46918727-46918728	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560666354	chr16:46918888-46918889	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs59708508	chr16:46918908-46918909	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs546450033	chr16:46918936-46918937	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376149649	chr16:46919044-46919045	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564553894	chr16:46919068-46919069	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531804204	chr16:46919117-46919118	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs550317589	chr16:46919123-46919124	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562064930	chr16:46919171-46919172	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185099155	chr16:46919173-46919174	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547660230	chr16:46919264-46919265	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs189039874	chr16:46919281-46919282	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539224085	chr16:46919298-46919299	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551127325	chr16:46919311-46919312	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569537035	chr16:46919314-46919315	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46917000-46917800	Flanking Active TSS	NHEK	skin
2	chr16:46917200-46917800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:46917200-46917800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr16:46917200-46917800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr16:46917200-46917800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:46917200-46917800	Flanking Active TSS	Fetal Heart	heart
7	chr16:46917200-46917800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr16:46917200-46918000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr16:46917200-46918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:46917200-46918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:46917200-46918000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr16:46917200-46918000	Flanking Active TSS	HMEC	breast
13	chr16:46917200-46918000	Flanking Active TSS	K562	blood
14	chr16:46917200-46918000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr16:46917200-46919000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr16:46917200-46919000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:46917200-46919400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:46917200-46919400	Active TSS	Liver	Liver
19	chr16:46917200-46919600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr16:46917200-46919800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:46917200-46920800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr16:46917200-46921200	Active TSS	Pancreas	Pancrea
23	chr16:46917400-46917800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr16:46917400-46917800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:46917400-46917800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:46917400-46917800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr16:46917400-46917800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr16:46917400-46917800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr16:46917400-46917800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr16:46917400-46917800	Flanking Active TSS	Placenta	Placenta
31	chr16:46917400-46917800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr16:46917400-46917800	Flanking Active TSS	Left Ventricle	heart
33	chr16:46917400-46917800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr16:46917400-46917800	Flanking Active TSS	Hela-S3	cervix
35	chr16:46917400-46917800	Flanking Active TSS	HSMM	muscle
36	chr16:46917400-46917800	Flanking Active TSS	HSMMtube	muscle
37	chr16:46917400-46917800	Flanking Active TSS	HUVEC	blood vessel
38	chr16:46917400-46917800	Flanking Active TSS	NH-A	brain
39	chr16:46917400-46917800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr16:46917400-46918000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr16:46917400-46918000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr16:46917400-46918000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr16:46917400-46918000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr16:46917400-46918000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr16:46917400-46918000	Flanking Active TSS	GM12878-XiMat	blood
49	chr16:46917400-46918200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:46917400-46918600	Active TSS	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links