Variant report

Variant	nsv521025
Chromosome Location	chr17:20198024-20514921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1763)
CpG islands
(count:2931)
Chromatin interactive
region (count:3)
LncRNA
region (count:51)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1763 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:20224178-20224437	K562	blood:	n/a	n/a
2	ATF3	chr17:20224059-20224450	H1-hESC	embryonic stem cell:	n/a	chr17:20224408-20224418 chr17:20224410-20224430 chr17:20224408-20224421 chr17:20224409-20224420 chr17:20224410-20224421 chr17:20224409-20224420 chr17:20224408-20224418 chr17:20224409-20224422 chr17:20224408-20224421 chr17:20224411-20224421 chr17:20224410-20224418 chr17:20224411-20224418 chr17:20224411-20224421 chr17:20224411-20224419 chr17:20224407-20224422
3	BACH1	chr17:20388438-20388633	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
5	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
6	BATF	chr17:20255920-20256169	GM12878	blood:	n/a	n/a
7	BATF	chr17:20268534-20268812	GM12878	blood:	n/a	n/a
8	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
9	BATF	chr17:20248455-20248916	GM12878	blood:	n/a	n/a
10	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
11	BATF	chr17:20339552-20339955	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
12	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
13	BATF	chr17:20243234-20243495	GM12878	blood:	n/a	n/a
14	BATF	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
15	BATF	chr17:20284594-20284865	GM12878	blood:	n/a	n/a
16	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
17	BATF	chr17:20339605-20339854	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
18	BATF	chr17:20268484-20268863	GM12878	blood:	n/a	n/a
19	BATF	chr17:20224099-20224508	GM12878	blood:	n/a	n/a
20	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
21	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
22	BCL11A	chr17:20224157-20224416	GM12878	blood:	n/a	n/a
23	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
24	BCL11A	chr17:20224116-20224588	GM12878	blood:	n/a	n/a
25	BCL11A	chr17:20326172-20326448	GM12878	blood:	n/a	n/a
26	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
27	BCL11A	chr17:20268605-20268835	GM12878	blood:	n/a	n/a
28	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
29	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
30	BCL11A	chr17:20243128-20243463	GM12878	blood:	n/a	n/a
31	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
32	BHLHE40	chr17:20285598-20285614	K562	blood:	n/a	n/a
33	BHLHE40	chr17:20514794-20515059	K562	blood:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
34	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
35	BRCA1	chr17:20224169-20224376	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr17:20224258-20224346	HepG2	liver:	n/a	n/a
37	CBX3	chr17:20224068-20224528	K562	blood:	n/a	n/a
38	CBX3	chr17:20210305-20210555	K562	blood:	n/a	n/a
39	CBX3	chr17:20224147-20224397	K562	blood:	n/a	n/a
40	CEBPB	chr17:20469063-20469069	K562	blood:	n/a	n/a
41	CEBPB	chr17:20200541-20200898	A549	lung:	n/a	chr17:20200701-20200712
42	CEBPB	chr17:20211603-20211937	HepG2	liver:	n/a	chr17:20211782-20211793
43	CEBPB	chr17:20200621-20200824	K562	blood:	n/a	chr17:20200701-20200712
44	CEBPB	chr17:20474419-20474705	HepG2	liver:	n/a	chr17:20474573-20474584
45	CEBPB	chr17:20243727-20243984	K562	blood:	n/a	chr17:20243922-20243935
46	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
47	CEBPB	chr17:20211638-20211964	A549	lung:	n/a	chr17:20211782-20211793
48	CEBPB	chr17:20224268-20224483	A549	lung:	n/a	n/a
49	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
50	CEBPB	chr17:20468918-20469141	HepG2	liver:	n/a	chr17:20469062-20469073

(count:2931 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20456385-20456435	LNCaP	prostate:	n/a
2	chr17:20456901-20456951	T-47D	breast:	n/a
3	chr17:20409125-20409175	HepG2	liver:	n/a
4	chr17:20456385-20456435	LNCaP	prostate:	n/a
5	chr17:20456901-20456951	T-47D	breast:	n/a
6	chr17:20409125-20409175	HepG2	liver:	n/a
7	chr17:20203992-20204042	MCF10A-Er-Src	breast:	n/a
8	chr17:20450466-20450516	Hela-S3	cervix:	n/a
9	chr17:20460627-20460677	NB4	blood:	n/a
10	chr17:20339878-20339928	BE2_C	brain:	n/a
11	chr17:20433187-20433237	Hepatocyte	liver:	n/a
12	chr17:20467965-20468015	GM19239	blood:	n/a
13	chr17:20456385-20456435	PFSK-1	brain:	n/a
14	chr17:20467917-20467967	HCM	heart:	n/a
15	chr17:20224230-20224280	U87	brain:	n/a
16	chr17:20465437-20465487	AG10803	skin:	n/a
17	chr17:20279144-20279194	Hepatocyte	liver:	n/a
18	chr17:20450466-20450516	GM12878	blood:	n/a
19	chr17:20408772-20408822	HepG2	liver:	n/a
20	chr17:20445757-20445807	NH-A	brain:	n/a
21	chr17:20467965-20468015	A549	lung:	n/a
22	chr17:20492631-20492681	HAEpiC	amniotic membrane:	n/a
23	chr17:20225674-20225724	A549	lung:	n/a
24	chr17:20217823-20217873	PANC-1	pancreas:	n/a
25	chr17:20280153-20280203	ECC-1	luminal epithelium:	n/a
26	chr17:20346491-20346541	SK-N-SH_RA	brain:	n/a
27	chr17:20326541-20326591	HEEpiC	esophagus:	n/a
28	chr17:20492631-20492681	ECC-1	luminal epithelium:	n/a
29	chr17:20467917-20467967	Caco-2	colon:	n/a
30	chr17:20445757-20445807	GM19239	blood:	n/a
31	chr17:20408772-20408822	HCM	heart:	n/a
32	chr17:20480574-20480624	Caco-2	colon:	n/a
33	chr17:20456385-20456435	NT2-D1	testis:	n/a
34	chr17:20445757-20445807	GM12891	blood:	n/a
35	chr17:20460588-20460638	GM06990	blood:	n/a
36	chr17:20224230-20224280	MCF-7	breast:	n/a
37	chr17:20433187-20433237	SK-N-SH_RA	brain:	n/a
38	chr17:20224414-20224464	SAEC	small airway:	n/a
39	chr17:20339589-20339639	AG04450	lung:	fetal
40	chr17:20224345-20224395	H1-hESC	embryonic stem cell:	embryo
41	chr17:20493386-20493436	HEEpiC	esophagus:	n/a
42	chr17:20408647-20408697	Hepatocyte	liver:	n/a
43	chr17:20489071-20489121	PFSK-1	brain:	n/a
44	chr17:20454132-20454182	SK-N-SH_RA	brain:	n/a
45	chr17:20460588-20460638	AG04449	skin:	fetal
46	chr17:20448558-20448608	HNPCEpiC	eye:	n/a
47	chr17:20464366-20464416	Jurkat	blood:	n/a
48	chr17:20448558-20448608	GM19239	blood:	n/a
49	chr17:20480574-20480624	HRPEpiC	eye:	n/a
50	chr17:20448558-20448608	AG09319	gingival:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
2	chr17:20164807..20165435-chr17:20223847..20224473,2	MCF-7	breast:
3	chr17:20193195..20195348-chr17:20196222..20198766,2	MCF-7	breast:

(count:51 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
2	lnc-FAM106B-1	chr17:20320763-20321272	NONHSAT146571
3	lnc-CCDC144C-1	chr17:20265497-20265680	NR_023380
4	lnc-FAM106B-2	chr17:20337350-20337598	ENSG00000265556.1
5	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
6	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
7	lnc-FAM106B-1	chr17:20320741-20322363	NONHSAT146570
8	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
9	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
10	lnc-FAM106B-2	chr17:20336519-20336570	ENSG00000265556.1
11	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
12	lnc-CCDC144C-1	chr17:20241470-20241543	NR_023380
13	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
14	lnc-CCDC144C-1	chr17:20245671-20245807	NR_023380
15	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
16	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
17	lnc-CCDC144C-1	chr17:20295677-20295897	NR_023380
18	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
19	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
20	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
21	lnc-CCDC144C-1	chr17:20305369-20305504	NR_023380
22	lnc-CCDC144C-1	chr17:20294788-20295081	NR_023380
23	lnc-CCDC144C-1	chr17:20239145-20239393	NR_023380
24	lnc-CCDC144C-1	chr17:20254251-20254284	NR_023380
25	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
26	lnc-CCDC144C-1	chr17:20268399-20269343	NR_023380
27	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
28	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
29	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574
30	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
31	lnc-CCDC144C-1	chr17:20254570-20254711	NR_023380
32	lnc-CCDC144C-1	chr17:20224487-20224973	NR_023380
33	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1
34	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
35	lnc-CCDC144C-1	chr17:20303834-20303876	NR_023380
36	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419
37	lnc-CCDC144C-1	chr17:20266235-20266363	NR_023380
38	lnc-CCDC144C-1	chr17:20261192-20261409	NR_023380
39	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
40	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
41	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
42	lnc-SPECC1-3	chr17:20244056-20244356	NONHSAT146561
43	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
44	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
45	lnc-SPECC1-1	chr17:20226197-20226286	ENSG00000263494.1
46	lnc-SPECC1-2	chr17:20226371-20226650	ENSG00000266839.1
47	lnc-CCDC144C-1	chr17:20227496-20227566	NR_023380
48	lnc-CCDC144C-1	chr17:20242793-20243632	NR_023380
49	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
50	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793

No data

Variant related genes	Relation type
UPF3AP2	TF binding region
FAM106B	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
ENSG00000265916	TF binding region
ENSG00000205215	TF binding region
COTL1P2	TF binding region
USP32P3	TF binding region
ENSG00000264422	TF binding region
ZSWIM5P2	TF binding region
SRP68P3	TF binding region
ENSG00000232889	TF binding region
ENSG00000229586	TF binding region
ENSG00000235546	TF binding region
ENSG00000265556	TF binding region
LGALS9B	TF binding region
CDRT15L2	TF binding region
SPECC1	TF binding region
ENSG00000260907	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	TF binding region
NOS2P3	TF binding region
KRT16P5	TF binding region
RN7SL17P	TF binding region
ENSG00000266925	TF binding region
CCDC144CP	TF binding region
ENSG00000231645	TF binding region
MEIS3P2	TF binding region
ENSG00000226096	TF binding region
TBC1D3P3	TF binding region
KRT16P3	TF binding region
ENSG00000266839	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
UPF3AP2	CpG island
FAM106B	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
COTL1P2	CpG island
USP32P3	CpG island
ENSG00000264422	CpG island
ZSWIM5P2	CpG island
SRP68P3	CpG island
ENSG00000232889	CpG island
ENSG00000229586	CpG island
ENSG00000235546	CpG island
ENSG00000265556	CpG island
LGALS9B	CpG island
CDRT15L2	CpG island
SPECC1	CpG island
ENSG00000260907	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
NOS2P3	CpG island
KRT16P5	CpG island
RN7SL17P	CpG island
ENSG00000266925	CpG island
CCDC144CP	CpG island
ENSG00000231645	CpG island
MEIS3P2	CpG island
ENSG00000226096	CpG island
TBC1D3P3	CpG island
KRT16P3	CpG island
ENSG00000266839	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
ENSG00000214860	chromatin interactions
ENSG00000252971	chromatin interactions
VPS4B	miRNA target sites
RNF125	miRNA target sites
GTF3C4	miRNA target sites

Extended variants
information (count: 6736 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:6736 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2034110	chr17:20198024-20198025	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs66686539	chr17:20198033-20198034	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146621863	chr17:20198087-20198088	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370660726	chr17:20198121-20198122	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563023095	chr17:20198128-20198129	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184628137	chr17:20198131-20198132	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530280666	chr17:20198136-20198137	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11654025	chr17:20198160-20198161	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187641556	chr17:20198185-20198186	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376378110	chr17:20198198-20198199	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115819408	chr17:20198204-20198205	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192935976	chr17:20198257-20198258	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553141819	chr17:20198290-20198291	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141238311	chr17:20198315-20198316	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34174703	chr17:20198327-20198328	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527360380	chr17:20198328-20198329	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550371553	chr17:20198346-20198347	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs397728703	chr17:20198351-20198352	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185121777	chr17:20198373-20198374	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189585538	chr17:20198430-20198431	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12941220	chr17:20198484-20198485	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554341191	chr17:20198507-20198508	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12950564	chr17:20198557-20198558	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs547210216	chr17:20198565-20198566	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547376640	chr17:20198574-20198575	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367668567	chr17:20198612-20198613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181286479	chr17:20198623-20198624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62066878	chr17:20198631-20198632	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562798235	chr17:20198682-20198683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7223481	chr17:20198708-20198709	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148967981	chr17:20198737-20198738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557344308	chr17:20198743-20198744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143705542	chr17:20198758-20198759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527922501	chr17:20198775-20198776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552572264	chr17:20198782-20198783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564822417	chr17:20198785-20198786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570337940	chr17:20198791-20198792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563336681	chr17:20198833-20198834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531973716	chr17:20198846-20198847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148249484	chr17:20198882-20198883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568559640	chr17:20198885-20198886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535932859	chr17:20198890-20198891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547918374	chr17:20198927-20198928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566311183	chr17:20198948-20198949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373830266	chr17:20198953-20198954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368498845	chr17:20198997-20198998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188195235	chr17:20199039-20199040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570731818	chr17:20199049-20199050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371902887	chr17:20199053-20199054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142781167	chr17:20199079-20199080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20164000-20200200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:20164000-20205600	Weak transcription	Esophagus	oesophagus
4	chr17:20164200-20200200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr17:20164400-20202200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:20164600-20203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:20164600-20204000	Weak transcription	Gastric	stomach
8	chr17:20167400-20200200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:20170400-20209600	Weak transcription	HMEC	breast
10	chr17:20171200-20200200	Weak transcription	Lung	lung
11	chr17:20174400-20200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:20175000-20200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:20180400-20200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:20180400-20203400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:20180600-20203200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr17:20181200-20200400	Weak transcription	Adipose Nuclei	Adipose
17	chr17:20181400-20200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:20181400-20200400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:20182000-20203000	Weak transcription	NH-A	brain
20	chr17:20182400-20200400	Weak transcription	Osteobl	bone
21	chr17:20184000-20200200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:20184800-20200400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:20185000-20200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:20185200-20209800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:20185400-20203800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:20185600-20201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:20185600-20206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:20185800-20203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:20186000-20203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:20186000-20209400	Weak transcription	Spleen	Spleen
31	chr17:20186200-20209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
33	chr17:20188000-20200200	Weak transcription	Aorta	Aorta
34	chr17:20188200-20208400	Weak transcription	NHEK	skin
35	chr17:20188400-20200400	Weak transcription	HSMMtube	muscle
36	chr17:20188400-20205600	Weak transcription	Primary T cells from cord blood	blood
37	chr17:20188600-20200200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:20188600-20200200	Weak transcription	Brain Substantia Nigra	brain
39	chr17:20188600-20203200	Weak transcription	HSMM	muscle
40	chr17:20188600-20209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:20188600-20209800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr17:20188800-20203000	Weak transcription	Fetal Stomach	stomach
43	chr17:20189800-20200200	Weak transcription	Brain Angular Gyrus	brain
44	chr17:20190000-20208600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:20190200-20200200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:20190400-20200400	Weak transcription	Hela-S3	cervix
47	chr17:20190400-20200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:20190400-20203800	Weak transcription	Colonic Mucosa	Colon
49	chr17:20190400-20204600	Weak transcription	Right Ventricle	heart
50	chr17:20191600-20200200	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links