Variant report

Variant	nsv112235
Chromosome Location	chr17:16116824-16120100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:836)
CpG islands
(count:550)
Chromatin interactive
region (count:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:836 , 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	chr17:16117740-16117755	K562	blood:	n/a	n/a
2	ARID3A	chr17:16118775-16118975	K562	blood:	n/a	n/a
3	ARID3A	chr17:16118713-16119045	HepG2	liver:	n/a	n/a
4	ATF3	chr17:16118571-16119176	A549	lung:	n/a	chr17:16119135-16119144
5	ATF3	chr17:16118535-16119370	A549	lung:	n/a	chr17:16119135-16119144
6	ATF3	chr17:16120079-16120890	A549	lung:	n/a	n/a
7	BACH1	chr17:16118591-16119509	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr17:16118764-16119022	GM12878	blood:	n/a	chr17:16118842-16118853
9	BCL3	chr17:16118680-16119082	GM12878	blood:	n/a	chr17:16119022-16119035
10	BCL3	chr17:16120084-16120936	A549	lung:	n/a	n/a
11	BCL3	chr17:16118598-16119548	A549	lung:	n/a	chr17:16119207-16119216 chr17:16119223-16119236 chr17:16119222-16119231 chr17:16119225-16119234 chr17:16119022-16119035
12	BCLAF1	chr17:16118638-16119121	GM12878	blood:	n/a	chr17:16119022-16119035
13	BCLAF1	chr17:16118352-16119737	GM12878	blood:	n/a	chr17:16118478-16118487 chr17:16118587-16118600 chr17:16119207-16119216 chr17:16119223-16119236 chr17:16119222-16119231 chr17:16119225-16119234 chr17:16119022-16119035
14	BCLAF1	chr17:16120081-16120911	GM12878	blood:	n/a	n/a
15	BCLAF1	chr17:16120031-16120757	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:16119288-16119601	K562	blood:	n/a	n/a
17	BHLHE40	chr17:16118381-16118391	K562	blood:	n/a	n/a
18	BHLHE40	chr17:16118810-16119071	K562	blood:	n/a	n/a
19	BHLHE40	chr17:16118646-16119081	GM12878	blood:	n/a	n/a
20	BRCA1	chr17:16118686-16118946	GM12878	blood:	n/a	n/a
21	BRCA1	chr17:16118710-16118739	HepG2	liver:	n/a	n/a
22	BRCA1	chr17:16117588-16118208	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr17:16118779-16119075	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr17:16118696-16119109	K562	blood:	n/a	n/a
25	CBX3	chr17:16119184-16119585	K562	blood:	n/a	n/a
26	CCNT2	chr17:16118162-16119215	K562	blood:	n/a	n/a
27	CEBPB	chr17:16118569-16119188	A549	lung:	n/a	n/a
28	CEBPB	chr17:16117862-16118207	IMR90	lung:	n/a	n/a
29	CEBPB	chr17:16118723-16119083	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr17:16116614-16116943	K562	blood:	n/a	n/a
31	CEBPB	chr17:16118771-16119262	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr17:16118728-16118905	K562	blood:	n/a	n/a
33	CEBPB	chr17:16117861-16118372	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr17:16120069-16121010	A549	lung:	n/a	n/a
35	CEBPB	chr17:16116642-16117019	K562	blood:	n/a	n/a
36	CEBPD	chr17:16118659-16119060	HepG2	liver:	n/a	n/a
37	CEBPD	chr17:16118621-16119063	K562	blood:	n/a	n/a
38	CEBPD	chr17:16118624-16119148	HepG2	liver:	n/a	n/a
39	CEBPD	chr17:16116717-16117112	K562	blood:	n/a	n/a
40	CHD1	chr17:16117961-16119595	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr17:16118066-16119427	GM12878	blood:	n/a	n/a
42	CHD1	chr17:16120085-16121787	IMR90	lung:	n/a	n/a
43	CHD2	chr17:16118607-16119475	GM12878	blood:	n/a	n/a
44	CHD2	chr17:16118069-16119339	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr17:16118590-16119237	HepG2	liver:	n/a	n/a
46	CHD2	chr17:16118790-16119279	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr17:16118681-16119459	K562	blood:	n/a	n/a
48	CREB1	chr17:16118242-16119302	A549	lung:	n/a	n/a
49	CREB1	chr17:16118647-16119075	A549	lung:	n/a	n/a
50	CTCF	chr17:16118940-16119090	NHEK	skin:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16119344-16119394	SAEC	small airway:	n/a
2	chr17:16119344-16119394	SAEC	small airway:	n/a
3	chr17:16119439-16119489	MCF-7	breast:	n/a
4	chr17:16118700-16118750	HCPEpiC	choroid plexus:	n/a
5	chr17:16118138-16118188	AG09319	gingival:	n/a
6	chr17:16119439-16119489	HCF	heart:	n/a
7	chr17:16118919-16118969	HEEpiC	esophagus:	n/a
8	chr17:16118806-16118856	NHDF-neo	bronchial:	n/a
9	chr17:16118138-16118188	SKMC	muscle:	n/a
10	chr17:16118700-16118750	NHBE	bronchial:	n/a
11	chr17:16119439-16119489	PrEC	prostate:	n/a
12	chr17:16118919-16118969	NH-A	brain:	n/a
13	chr17:16119456-16119506	HPAEpiC	pulmonary alveolar:	n/a
14	chr17:16118138-16118188	HUVEC	blood vessel:	n/a
15	chr17:16118251-16118301	NHDF-neo	bronchial:	n/a
16	chr17:16118806-16118856	Caco-2	colon:	n/a
17	chr17:16118138-16118188	MCF10A-Er-Src	breast:	n/a
18	chr17:16118138-16118188	IMR90	lung:	fetal
19	chr17:16119441-16119491	IMR90	lung:	fetal
20	chr17:16118806-16118856	AG09319	gingival:	n/a
21	chr17:16118138-16118188	HCT-116	colon:	n/a
22	chr17:16118806-16118856	ProgFib	skin:	n/a
23	chr17:16119456-16119506	HL-60	blood:	n/a
24	chr17:16118806-16118856	GM12878	blood:	n/a
25	chr17:16119344-16119394	ProgFib	skin:	n/a
26	chr17:16118806-16118856	PFSK-1	brain:	n/a
27	chr17:16118700-16118750	NH-A	brain:	n/a
28	chr17:16119439-16119489	HEK293	kidney:	embryo
29	chr17:16119456-16119506	IMR90	lung:	fetal
30	chr17:16119344-16119394	AoSMC	blood vessel:	n/a
31	chr17:16119439-16119489	NB4	blood:	n/a
32	chr17:16119441-16119491	ProgFib	skin:	n/a
33	chr17:16118919-16118969	HPAEpiC	pulmonary alveolar:	n/a
34	chr17:16118251-16118301	HIPEpiC	eye:	n/a
35	chr17:16118806-16118856	HIPEpiC	eye:	n/a
36	chr17:16118700-16118750	PFSK-1	brain:	n/a
37	chr17:16119441-16119491	A549	lung:	n/a
38	chr17:16118700-16118750	CMK	blood:	n/a
39	chr17:16118138-16118188	ECC-1	luminal epithelium:	n/a
40	chr17:16118138-16118188	GM12891	blood:	n/a
41	chr17:16119439-16119489	NT2-D1	testis:	n/a
42	chr17:16119456-16119506	Hela-S3	cervix:	n/a
43	chr17:16118919-16118969	GM19239	blood:	n/a
44	chr17:16119456-16119506	HepG2	liver:	n/a
45	chr17:16118806-16118856	AG09309	skin:	n/a
46	chr17:16118700-16118750	HCM	heart:	n/a
47	chr17:16118806-16118856	HCM	heart:	n/a
48	chr17:16119456-16119506	RPTEC	kidney:	n/a
49	chr17:16119439-16119489	HNPCEpiC	eye:	n/a
50	chr17:16119456-16119506	HCF	heart:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16117769..16122024-chr17:16284027..16287393,3	K562	blood:
2	chr17:16118306..16119162-chr19:36139052..36139638,2	Hela-S3	cervix:
3	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
4	chr17:16118917..16121426-chr17:16341120..16343503,3	MCF-7	breast:
5	chr17:16118268..16119159-chr8:62627070..62627630,2	Hela-S3	cervix:
6	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
7	chr17:16118549..16119334-chr22:19419377..19419924,2	Hela-S3	cervix:
8	chr17:16117370..16118876-chr17:16121320..16122865,2	K562	blood:
9	chr17:16118752..16119403-chr22:41347099..41347775,2	NB4	blood:
10	chr1:113497995..113498938-chr17:16118772..16119540,2	Hela-S3	cervix:
11	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
12	chr17:15987048..15989365-chr17:16117375..16120147,2	MCF-7	breast:
13	chr17:16115419..16117298-chr17:56706385..56708749,2	MCF-7	breast:
14	chr17:16118765..16119327-chr2:190649095..190649706,2	NB4	blood:
15	chr17:15902955..15905510-chr17:16117213..16119076,2	K562	blood:
16	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
17	chr17:16117937..16120860-chr17:16340907..16344654,4	K562	blood:
18	chr17:16118623..16119597-chr3:100120034..100120875,2	Hela-S3	cervix:
19	chr12:14926760..14928352-chr17:16118616..16120352,2	MCF-7	breast:
20	chr17:16118192..16118876-chr19:55987576..55988208,2	Hela-S3	cervix:
21	chr17:16118960..16120810-chr17:16254534..16257203,3	K562	blood:
22	chr17:16117875..16121026-chr17:16318413..16323261,4	K562	blood:
23	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
24	chr15:60689206..60690030-chr17:16118605..16119334,2	Hela-S3	cervix:
25	chr17:16118435..16121280-chr8:145831040..145833997,2	MCF-7	breast:
26	chr17:16118309..16118871-chr7:128116620..128117465,2	Hela-S3	cervix:
27	chr1:145382530..145383456-chr17:16118328..16119083,2	Hela-S3	cervix:
28	chr17:16118406..16118944-chr6:126101530..126102507,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPV-4	chr17:16118676-16118715	NONHSAT145897

No data

Variant related genes	Relation type
PIGL	TF binding region
NCOR1	TF binding region
PIGL	CpG island
NCOR1	CpG island
ENSG00000201558	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000264739	chromatin interactions
ENSG00000126267	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000269859	chromatin interactions
ENSG00000011295	chromatin interactions
ENSG00000181350	chromatin interactions
ENSG00000165055	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000100387	chromatin interactions
ENSG00000166582	chromatin interactions
ENSG00000246705	chromatin interactions
ENSG00000266651	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000206535	chromatin interactions
ENSG00000265401	chromatin interactions
ENSG00000198363	chromatin interactions
ENSG00000111912	chromatin interactions
ENSG00000128699	chromatin interactions
ENSG00000214941	chromatin interactions
ENSG00000147799	chromatin interactions
ENSG00000187688	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000154174	chromatin interactions
ENSG00000233979	chromatin interactions
ENSG00000264408	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375414552	chr17:16116824-16116825	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs62072522	chr17:16116826-16116827	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11867824	chr17:16116835-16116836	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369192382	chr17:16116862-16116863	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376884512	chr17:16116908-16116909	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568668097	chr17:16116985-16116986	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs371826180	chr17:16116999-16117000	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs189575963	chr17:16117031-16117032	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376421471	chr17:16117147-16117148	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537815101	chr17:16117150-16117151	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558169551	chr17:16117165-16117166	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs578228994	chr17:16117206-16117207	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs182147660	chr17:16117224-16117225	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs553978353	chr17:16117261-16117262	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs573871603	chr17:16117274-16117275	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs549997137	chr17:16117335-16117336	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs116935512	chr17:16117355-16117356	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs178798	chr17:16117359-16117360	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs531619887	chr17:16117364-16117365	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs528969128	chr17:16117366-16117367	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs34864241	chr17:16117395-16117396	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs147259430	chr17:16117418-16117419	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs529142510	chr17:16117419-16117420	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs554208779	chr17:16117523-16117524	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs574359164	chr17:16117572-16117573	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs376471662	chr17:16117590-16117591	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs140758582	chr17:16117761-16117762	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs529071117	chr17:16117770-16117771	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs549115445	chr17:16117792-16117793	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs550694677	chr17:16117834-16117835	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs144605726	chr17:16117843-16117844	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs551395157	chr17:16117856-16117857	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs186752111	chr17:16117881-16117882	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs534533172	chr17:16117886-16117887	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs554014466	chr17:16117903-16117904	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs190867744	chr17:16117929-16117930	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs184050497	chr17:16117969-16117970	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs556244409	chr17:16117999-16118000	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs188491197	chr17:16118004-16118005	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs533733880	chr17:16118058-16118059	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs545165816	chr17:16118110-16118111	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs539533824	chr17:16118129-16118130	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs145708850	chr17:16118143-16118144	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs565317667	chr17:16118186-16118187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs553484117	chr17:16118201-16118202	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs572328274	chr17:16118206-16118207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs540555981	chr17:16118210-16118211	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs151334552	chr17:16118226-16118227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs529111338	chr17:16118252-16118253	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs570127093	chr17:16118259-16118260	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	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
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16088000-16117000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:16093600-16117000	Weak transcription	Aorta	Aorta
3	chr17:16095200-16117000	Weak transcription	Right Ventricle	heart
4	chr17:16101800-16117000	Weak transcription	Fetal Stomach	stomach
5	chr17:16104000-16117000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:16105200-16117000	Weak transcription	NHEK	skin
7	chr17:16105400-16118000	Weak transcription	Spleen	Spleen
8	chr17:16106400-16117000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:16106800-16118000	Weak transcription	Lung	lung
10	chr17:16107000-16117000	Weak transcription	Brain Anterior Caudate	brain
11	chr17:16107000-16117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:16108400-16117600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:16108800-16117600	Weak transcription	Gastric	stomach
14	chr17:16110000-16117000	Weak transcription	Stomach Mucosa	stomach
15	chr17:16112200-16117600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:16114000-16117400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:16114000-16117600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:16114400-16117000	Weak transcription	Fetal Heart	heart
19	chr17:16114400-16117200	Enhancers	Small Intestine	intestine
20	chr17:16114600-16117000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr17:16114600-16117000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:16114800-16117200	Enhancers	Fetal Brain Female	brain
23	chr17:16114800-16117400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr17:16114800-16119400	Active TSS	GM12878-XiMat	blood
25	chr17:16115000-16117000	Weak transcription	NHDF-Ad	bronchial
26	chr17:16115000-16117400	Enhancers	Fetal Brain Male	brain
27	chr17:16115200-16117000	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:16115200-16117600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:16115400-16117000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:16115400-16117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:16115400-16117600	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:16115800-16117400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr17:16116000-16117000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr17:16116000-16117200	Enhancers	Thymus	Thymus
35	chr17:16116000-16117600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr17:16116000-16117800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr17:16116200-16117000	Enhancers	Primary B cells from cord blood	blood
38	chr17:16116200-16117000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:16116200-16117000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:16116200-16117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:16116200-16117000	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:16116200-16117000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr17:16116200-16117400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr17:16116200-16117400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:16116200-16117400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr17:16116200-16117400	Enhancers	Brain Germinal Matrix	brain
47	chr17:16116200-16117400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr17:16116200-16117400	Weak transcription	Fetal Thymus	thymus
49	chr17:16116200-16117600	Enhancers	Colon Smooth Muscle	Colon
50	chr17:16116200-16119400	Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links