Variant report

Variant	nsv457697
Chromosome Location	chr17:18003845-18046290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1088)
CpG islands
(count:1347)
Chromatin interactive
region (count:89)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:18041673-18042165	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:18044477-18044878	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:18044390-18044917	K562	blood:	n/a	n/a
4	BCL3	chr17:18013433-18014245	A549	lung:	n/a	n/a
5	BCL3	chr17:18011863-18012916	A549	lung:	n/a	n/a
6	BHLHE40	chr17:18043300-18043453	GM12878	blood:	n/a	n/a
7	BHLHE40	chr17:18043279-18043577	K562	blood:	n/a	n/a
8	BRCA1	chr17:18041647-18042000	HepG2	liver:	n/a	n/a
9	BRCA1	chr17:18019255-18019448	HepG2	liver:	n/a	n/a
10	CEBPB	chr17:18028033-18028427	IMR90	lung:	n/a	n/a
11	CEBPB	chr17:18020858-18021242	HepG2	liver:	n/a	chr17:18021042-18021053
12	CEBPB	chr17:18008987-18009215	HepG2	liver:	n/a	chr17:18009114-18009125
13	CEBPB	chr17:18041694-18041932	Hela-S3	cervix:	n/a	chr17:18041823-18041834
14	CEBPB	chr17:18020848-18021247	HepG2	liver:	n/a	chr17:18021042-18021053
15	CEBPB	chr17:18028052-18028428	A549	lung:	n/a	n/a
16	CEBPB	chr17:18041496-18042198	HepG2	liver:	n/a	chr17:18041823-18041834
17	CEBPB	chr17:18032598-18032908	K562	blood:	n/a	chr17:18032723-18032734
18	CEBPB	chr17:18041553-18042047	HepG2	liver:	n/a	chr17:18041823-18041834
19	CEBPB	chr17:18041615-18042147	HepG2	liver:	n/a	chr17:18041823-18041834
20	CEBPB	chr17:18020885-18021211	IMR90	lung:	n/a	chr17:18021042-18021053
21	CEBPB	chr17:18032538-18032905	A549	lung:	n/a	chr17:18032723-18032734
22	CEBPB	chr17:18020886-18021172	Hela-S3	cervix:	n/a	chr17:18021042-18021053
23	CEBPB	chr17:18028118-18028432	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr17:18032482-18032907	IMR90	lung:	n/a	chr17:18032723-18032734
25	CEBPB	chr17:18032567-18032894	Hela-S3	cervix:	n/a	chr17:18032723-18032734
26	CEBPB	chr17:18032551-18032908	HepG2	liver:	n/a	chr17:18032723-18032734
27	CEBPB	chr17:18027999-18028438	K562	blood:	n/a	n/a
28	CEBPB	chr17:18032664-18032829	HepG2	liver:	n/a	chr17:18032723-18032734
29	CEBPB	chr17:18020787-18021162	HepG2	liver:	n/a	chr17:18021042-18021053
30	CEBPB	chr17:18020887-18021176	HepG2	liver:	n/a	chr17:18021042-18021053
31	CEBPB	chr17:18041690-18041916	HepG2	liver:	n/a	chr17:18041823-18041834
32	CEBPB	chr17:18020913-18021113	K562	blood:	n/a	chr17:18021042-18021053
33	CEBPB	chr17:18032587-18032844	H1-hESC	embryonic stem cell:	n/a	chr17:18032723-18032734
34	CEBPB	chr17:18028043-18028417	HepG2	liver:	n/a	n/a
35	CEBPD	chr17:18020921-18021179	HepG2	liver:	n/a	n/a
36	CEBPD	chr17:18041633-18041921	HepG2	liver:	n/a	n/a
37	CEBPD	chr17:18041683-18041943	HepG2	liver:	n/a	n/a
38	CEBPD	chr17:18020902-18021156	HepG2	liver:	n/a	n/a
39	CHD2	chr17:18006051-18006213	K562	blood:	n/a	n/a
40	CHD2	chr17:18044401-18044601	K562	blood:	n/a	n/a
41	CHD2	chr17:18012576-18012987	K562	blood:	n/a	n/a
42	CHD2	chr17:18042148-18042267	HepG2	liver:	n/a	n/a
43	CREB1	chr17:18032339-18032677	A549	lung:	n/a	n/a
44	CREB1	chr17:18043326-18043621	A549	lung:	n/a	n/a
45	CTCF	chr17:18044300-18044450	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr17:18043360-18043510	AG04449	skin:	n/a	chr17:18043423-18043444 chr17:18043421-18043439 chr17:18043424-18043437
47	CTCF	chr17:18043320-18043470	GM12875	blood:	n/a	chr17:18043423-18043444 chr17:18043421-18043439 chr17:18043424-18043437
48	CTCF	chr17:18043380-18043530	RPTEC	kidney:	n/a	chr17:18043423-18043444 chr17:18043421-18043439 chr17:18043424-18043437
49	CTCF	chr17:18044572-18044834	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr17:18044200-18044350	HEEpiC	esophagus:	n/a	n/a

(count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18010713-18010763	SK-N-SH_RA	brain:	n/a
2	chr17:18012014-18012064	IMR90	lung:	fetal
3	chr17:18010740-18010790	H1-hESC	embryonic stem cell:	embryo
4	chr17:18023695-18023745	ovcar-3	ovarian:	n/a
5	chr17:18026502-18026552	MCF-7	breast:	n/a
6	chr17:18010713-18010763	SK-N-SH_RA	brain:	n/a
7	chr17:18012014-18012064	IMR90	lung:	fetal
8	chr17:18010740-18010790	H1-hESC	embryonic stem cell:	embryo
9	chr17:18023695-18023745	ovcar-3	ovarian:	n/a
10	chr17:18026502-18026552	MCF-7	breast:	n/a
11	chr17:18023121-18023171	GM12891	blood:	n/a
12	chr17:18012134-18012184	Caco-2	colon:	n/a
13	chr17:18024636-18024686	CMK	blood:	n/a
14	chr17:18044452-18044502	HIPEpiC	eye:	n/a
15	chr17:18012007-18012057	Jurkat	blood:	n/a
16	chr17:18026502-18026552	NB4	blood:	n/a
17	chr17:18023695-18023745	K562	blood:	n/a
18	chr17:18024867-18024917	Jurkat	blood:	n/a
19	chr17:18011923-18011973	HIPEpiC	eye:	n/a
20	chr17:18023971-18024021	HAEpiC	amniotic membrane:	n/a
21	chr17:18022714-18022764	HAEpiC	amniotic membrane:	n/a
22	chr17:18012011-18012061	HCM	heart:	n/a
23	chr17:18011923-18011973	AG10803	skin:	n/a
24	chr17:18012007-18012057	AG09309	skin:	n/a
25	chr17:18022714-18022764	GM12892	blood:	n/a
26	chr17:18022714-18022764	PrEC	prostate:	n/a
27	chr17:18024867-18024917	HPAEpiC	pulmonary alveolar:	n/a
28	chr17:18023558-18023608	NB4	blood:	n/a
29	chr17:18010713-18010763	BE2_C	brain:	n/a
30	chr17:18012134-18012184	MCF-7	breast:	n/a
31	chr17:18022959-18023009	MCF-7	breast:	n/a
32	chr17:18026502-18026552	SKMC	muscle:	n/a
33	chr17:18024867-18024917	K562	blood:	n/a
34	chr17:18023971-18024021	Jurkat	blood:	n/a
35	chr17:18010713-18010763	Hela-S3	cervix:	n/a
36	chr17:18012014-18012064	NB4	blood:	n/a
37	chr17:18010713-18010763	HCPEpiC	choroid plexus:	n/a
38	chr17:18011879-18011929	HRCEpiC	kidney:	n/a
39	chr17:18024867-18024917	AG09319	gingival:	n/a
40	chr17:18022025-18022075	Hepatocyte	liver:	n/a
41	chr17:18011879-18011929	HCF	heart:	n/a
42	chr17:18012007-18012057	AG09319	gingival:	n/a
43	chr17:18012014-18012064	HIPEpiC	eye:	n/a
44	chr17:18010713-18010763	HRCEpiC	kidney:	n/a
45	chr17:18010713-18010763	PrEC	prostate:	n/a
46	chr17:18026502-18026552	HCM	heart:	n/a
47	chr17:18011513-18011563	ProgFib	skin:	n/a
48	chr17:18022959-18023009	Jurkat	blood:	n/a
49	chr17:18023121-18023171	AoSMC	blood vessel:	n/a
50	chr17:18022025-18022075	HEK293	kidney:	embryo

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:17989884..17994353-chr17:18008301..18011863,4	MCF-7	breast:
2	chr17:18014082..18015832-chr17:18026108..18028285,2	MCF-7	breast:
3	chr17:18021086..18023676-chr17:18037451..18039059,2	MCF-7	breast:
4	chr17:18039531..18041825-chr17:18044151..18046470,2	K562	blood:
5	chr17:18013158..18015444-chr17:18018445..18021397,3	MCF-7	breast:
6	chr17:18020446..18022435-chr17:18029700..18032433,2	MCF-7	breast:
7	chr17:17991589..17993318-chr17:18013576..18015292,2	MCF-7	breast:
8	chr17:18008903..18011333-chr17:18013439..18016712,3	K562	blood:
9	chr17:18015610..18018849-chr17:18019499..18024205,4	MCF-7	breast:
10	chr17:18032210..18034004-chr17:18085274..18087745,2	K562	blood:
11	chr17:18012129..18016581-chr17:18018314..18021860,5	K562	blood:
12	chr17:18008952..18011744-chr17:18014672..18019225,4	MCF-7	breast:
13	chr17:17999192..18001070-chr17:18003936..18005564,2	MCF-7	breast:
14	chr17:18036589..18038167-chr17:18040097..18042014,2	K562	blood:
15	chr17:18008903..18011616-chr17:18013439..18016712,4	K562	blood:
16	chr17:17990119..17992682-chr17:18018427..18021304,2	MCF-7	breast:
17	chr17:18007007..18008585-chr17:18011589..18013521,2	MCF-7	breast:
18	chr17:17991175..17992714-chr17:18046165..18048704,2	K562	blood:
19	chr17:18026105..18028759-chr17:18029242..18030867,2	K562	blood:
20	chr17:18006973..18009716-chr17:18011197..18014211,3	MCF-7	breast:
21	chr17:18044317..18045124-chr17:18086070..18086665,2	MCF-7	breast:
22	chr17:18021481..18023947-chr17:18025054..18028164,3	MCF-7	breast:
23	chr17:18023938..18027022-chr17:18030857..18033750,4	MCF-7	breast:
24	chr17:18012129..18016581-chr17:18018314..18021860,5	K562	blood:
25	chr17:18003150..18005697-chr17:18005804..18009839,4	MCF-7	breast:
26	chr17:18007007..18008585-chr17:18011589..18013521,2	MCF-7	breast:
27	chr17:18044115..18044841-chr17:18120469..18121362,2	K562	blood:
28	chr17:18042805..18044736-chr17:18086569..18089339,2	K562	blood:
29	chr17:18031305..18033778-chr17:18084971..18087031,2	MCF-7	breast:
30	chr17:18043317..18043875-chr17:18059389..18059944,2	MCF-7	breast:
31	chr17:18005331..18008170-chr17:18017424..18019520,2	K562	blood:
32	chr17:18013158..18015444-chr17:18018445..18021397,3	MCF-7	breast:
33	chr17:18035401..18038176-chr17:18084988..18086618,2	MCF-7	breast:
34	chr17:18003932..18005616-chr17:18013733..18015364,2	K562	blood:
35	chr17:17999260..18001895-chr17:18003244..18006001,2	K562	blood:
36	chr17:18034621..18036345-chr17:18038369..18041119,2	K562	blood:
37	chr17:17942623..17944308-chr17:18030072..18032323,2	MCF-7	breast:
38	chr17:18012199..18014254-chr17:18015114..18017302,2	K562	blood:
39	chr17:18042115..18044970-chr17:18226720..18228381,2	MCF-7	breast:
40	chr17:18034463..18036913-chr17:18059459..18061391,2	MCF-7	breast:
41	chr12:66523833..66524533-chr17:18043009..18043721,2	MCF-7	breast:
42	chr17:18018156..18020480-chr17:18026722..18028730,2	K562	blood:
43	chr17:18044679..18047861-chr17:18085770..18088322,3	MCF-7	breast:
44	chr17:18042232..18044800-chr17:18055136..18057841,3	K562	blood:
45	chr17:18036844..18039575-chr17:18086899..18088977,2	K562	blood:
46	chr17:18031771..18034328-chr17:18038844..18040628,2	MCF-7	breast:
47	chr17:18044150..18045078-chr17:18059256..18060265,3	MCF-7	breast:
48	chr17:18002225..18003921-chr17:18008147..18010610,2	K562	blood:
49	chr17:18034621..18036345-chr17:18038369..18041119,2	K562	blood:
50	chr17:18019422..18021646-chr17:18026268..18029392,3	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATPAF2-2	chr17:18007559-18008671	NONHSAT146144
2	lnc-ATPAF2-2	chr17:18012668-18014598	NONHSAT146146
3	lnc-ATPAF2-2	chr17:18020656-18020910	NONHSAT146143
4	lnc-ATPAF2-2	chr17:18011670-18011949	NONHSAT146144
5	lnc-ATPAF2-2	chr17:18007559-18008010	NONHSAT146145
6	lnc-ATPAF2-2	chr17:18004608-18005590	NONHSAT146143
7	lnc-ATPAF2-2	chr17:18012668-18012819	NONHSAT146144
8	lnc-ATPAF2-2	chr17:18009717-18011585	NONHSAT146144
9	lnc-ATPAF2-2	chr17:18020656-18020910	NONHSAT146145
10	lnc-ATPAF2-2	chr17:18008552-18009088	NONHSAT146145
11	lnc-ATPAF2-2	chr17:18020656-18020918	NONHSAT146147
12	lnc-ATPAF2-2	chr17:18008925-18009088	NONHSAT146144
13	lnc-ATPAF2-2	chr17:18011670-18011949	NONHSAT146146
14	lnc-ATPAF2-2	chr17:18007636-18009088	NONHSAT146147
15	lnc-ATPAF2-2	chr17:18009717-18014392	NONHSAT146147
16	lnc-ATPAF2-2	chr17:18008925-18009088	NONHSAT146146
17	lnc-ATPAF2-2	chr17:18012668-18013771	NONHSAT146145
18	lnc-ATPAF2-2	chr17:18010648-18013777	NONHSAT146149
19	lnc-ATPAF2-2	chr17:18007636-18008671	NONHSAT146146
20	lnc-ATPAF2-2	chr17:18009717-18011949	NONHSAT146145
21	lnc-ATPAF2-2	chr17:18009717-18009905	NONHSAT146146
22	lnc-ATPAF2-2	chr17:18014166-18014392	NONHSAT146143
23	lnc-ATPAF2-2	chr17:18011670-18011949	NONHSAT146143
24	lnc-ATPAF2-2	chr17:18012924-18014521	NONHSAT146144
25	lnc-ATPAF2-2	chr17:18014166-18014392	NONHSAT146145

No data

Variant related genes	Relation type
ENSG00000238691	TF binding region
DRG2	TF binding region
MYO15A	TF binding region
ENSG00000238691	CpG island
DRG2	CpG island
MYO15A	CpG island
ENSG00000141034	chromatin interactions
ENSG00000239335	chromatin interactions
ENSG00000267350	chromatin interactions
ENSG00000091536	chromatin interactions
ENSG00000139233	chromatin interactions
ENSG00000108591	chromatin interactions
ENSG00000091542	chromatin interactions
ENSG00000238691	chromatin interactions
ENSG00000266677	chromatin interactions
EP300	miRNA target sites
SOX5	miRNA target sites
HBEGF	miRNA target sites
EIF2C1	miRNA target sites

Extended variants
information (count: 1823 )
Associated
traits (count: 163 )

Variant overlapped rSNPs/rCNVs (count:1823 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854813	chr17:18003845-18003846	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199953602	chr17:18003860-18003861	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371097365	chr17:18003872-18003873	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539434977	chr17:18003903-18003904	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543140150	chr17:18003915-18003916	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143296623	chr17:18003919-18003920	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs17855350	chr17:18003923-18003924	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552176830	chr17:18003924-18003925	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148333485	chr17:18003929-18003930	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151078395	chr17:18003938-18003939	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375361591	chr17:18003957-18003958	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199769378	chr17:18003966-18003967	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368366448	chr17:18003994-18003995	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548407935	chr17:18004016-18004017	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189278393	chr17:18004022-18004023	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192547261	chr17:18004023-18004024	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549993150	chr17:18004028-18004029	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570105859	chr17:18004029-18004030	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371227446	chr17:18004033-18004034	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558483020	chr17:18004095-18004096	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs8066792	chr17:18004108-18004109	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116220071	chr17:18004132-18004133	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554780750	chr17:18004319-18004320	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574917112	chr17:18004320-18004321	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543530665	chr17:18004371-18004372	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556804276	chr17:18004491-18004492	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs184400628	chr17:18004572-18004573	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545825811	chr17:18004577-18004578	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75409266	chr17:18004616-18004617	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs143603830	chr17:18004617-18004618	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs9903865	chr17:18004702-18004703	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561954665	chr17:18004712-18004713	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs146047740	chr17:18004715-18004716	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs550716665	chr17:18004725-18004726	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs76905608	chr17:18004728-18004729	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs532423129	chr17:18004750-18004751	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs552200131	chr17:18004785-18004786	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs35984311	chr17:18004793-18004794	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs371790415	chr17:18004794-18004795	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs367924633	chr17:18004795-18004796	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs114524109	chr17:18004799-18004800	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs374864284	chr17:18004816-18004817	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs61256737	chr17:18004845-18004846	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370205070	chr17:18004850-18004851	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs373449509	chr17:18004857-18004858	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs34767270	chr17:18004862-18004863	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201092471	chr17:18004863-18004864	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs377415926	chr17:18004866-18004867	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs146799184	chr17:18004871-18004872	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs563479788	chr17:18004901-18004902	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:163)

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
Colorectal cancer	16774939	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
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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17991800-18009800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17992200-18014000	Weak transcription	Right Atrium	heart
3	chr17:17992400-18005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17993000-18004800	Weak transcription	Small Intestine	intestine
5	chr17:17993000-18012000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr17:17993200-18011200	Strong transcription	Fetal Stomach	stomach
7	chr17:17993800-18005200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:17994000-18005400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:17994000-18005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17994000-18006000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:17994000-18010800	Strong transcription	Dnd41	blood
12	chr17:17994200-18005400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr17:17994200-18005600	Strong transcription	Primary T cells from cord blood	blood
14	chr17:17994200-18010800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:17994200-18010800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:17994200-18011000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:17994200-18011000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:17994200-18011600	Strong transcription	Fetal Muscle Leg	muscle
19	chr17:17994200-18011800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr17:17994200-18012000	Strong transcription	Fetal Intestine Small	intestine
21	chr17:17994400-18005600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr17:17994400-18005600	Strong transcription	Fetal Thymus	thymus
23	chr17:17994400-18011000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:17994400-18011400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:17994600-18011200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:17994600-18012800	Strong transcription	Thymus	Thymus
27	chr17:17994800-18004600	Strong transcription	Liver	Liver
28	chr17:17994800-18005400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:17995000-18005600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:17995000-18010800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:17995000-18011200	Strong transcription	Placenta	Placenta
32	chr17:17995200-18005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:17995200-18011000	Strong transcription	Ovary	ovary
34	chr17:17995200-18011000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:17995200-18011000	Strong transcription	NHLF	lung
36	chr17:17995200-18011400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:17995200-18011400	Strong transcription	Lung	lung
38	chr17:17995200-18011400	Strong transcription	A549	lung
39	chr17:17995200-18011600	Strong transcription	Fetal Intestine Large	intestine
40	chr17:17995400-18004800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:17995400-18005600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr17:17995400-18005600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr17:17995400-18011000	Strong transcription	Adipose Nuclei	Adipose
44	chr17:17995400-18011400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:17996000-18010400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:17996200-18005400	Strong transcription	Osteobl	bone
47	chr17:17996200-18011000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:17996400-18011000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr17:17996800-18004200	Strong transcription	GM12878-XiMat	blood
50	chr17:17996800-18011000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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