Variant report

Variant	esv2758720
Chromosome Location	chr18:30383327-30574737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1402)
CpG islands
(count:62)
Chromatin interactive
region (count:35)
LncRNA
region (count:42)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1402 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:30510663-30511023	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:30499794-30500195	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:30501452-30501739	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:30383447-30384948	HepG2	liver:	n/a	n/a
5	ATF1	chr18:30510749-30510935	K562	blood:	n/a	n/a
6	ATF2	chr18:30383473-30383925	GM12878	blood:	n/a	n/a
7	ATF2	chr18:30502920-30503305	GM12878	blood:	n/a	n/a
8	BACH1	chr18:30516693-30517043	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr18:30554611-30554999	GM12878	blood:	n/a	n/a
10	BATF	chr18:30384171-30384433	GM12878	blood:	n/a	chr18:30384283-30384294
11	BHLHE40	chr18:30458916-30458920	K562	blood:	n/a	n/a
12	BHLHE40	chr18:30447572-30447614	GM12878	blood:	n/a	n/a
13	BHLHE40	chr18:30384202-30384891	HepG2	liver:	n/a	n/a
14	BHLHE40	chr18:30503054-30503254	GM12878	blood:	n/a	n/a
15	BHLHE40	chr18:30458794-30458991	HepG2	liver:	n/a	chr18:30458890-30458899 chr18:30458890-30458899 chr18:30458888-30458901 chr18:30458889-30458898
16	BHLHE40	chr18:30383524-30383906	HepG2	liver:	n/a	n/a
17	BHLHE40	chr18:30510763-30510997	GM12878	blood:	n/a	n/a
18	CCNT2	chr18:30486329-30486420	K562	blood:	n/a	n/a
19	CCNT2	chr18:30423417-30423582	K562	blood:	n/a	n/a
20	CEBPB	chr18:30501563-30501737	HepG2	liver:	n/a	chr18:30501659-30501670
21	CEBPB	chr18:30548180-30548638	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr18:30382908-30384010	HepG2	liver:	n/a	n/a
23	CEBPB	chr18:30526628-30526917	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr18:30391689-30391910	A549	lung:	n/a	chr18:30391720-30391731
25	CEBPB	chr18:30500757-30501119	HepG2	liver:	n/a	chr18:30500944-30500955
26	CEBPB	chr18:30510693-30510988	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr18:30443538-30443811	A549	lung:	n/a	chr18:30443654-30443665
28	CEBPB	chr18:30391592-30391915	HepG2	liver:	n/a	chr18:30391720-30391731
29	CEBPB	chr18:30384428-30384735	HepG2	liver:	n/a	n/a
30	CEBPB	chr18:30383473-30383995	HepG2	liver:	n/a	n/a
31	CEBPB	chr18:30501453-30501831	IMR90	lung:	n/a	chr18:30501659-30501670
32	CEBPB	chr18:30501501-30501761	A549	lung:	n/a	chr18:30501659-30501670
33	CEBPB	chr18:30384433-30384828	HepG2	liver:	n/a	n/a
34	CEBPB	chr18:30427712-30428020	H1-hESC	embryonic stem cell:	n/a	chr18:30427864-30427877
35	CEBPB	chr18:30510683-30510966	HepG2	liver:	n/a	n/a
36	CEBPB	chr18:30500870-30501015	HepG2	liver:	n/a	chr18:30500944-30500955
37	CEBPB	chr18:30411673-30411944	HepG2	liver:	n/a	chr18:30411814-30411831
38	CEBPB	chr18:30499791-30500141	HepG2	liver:	n/a	n/a
39	CEBPB	chr18:30518996-30519140	HepG2	liver:	n/a	n/a
40	CEBPB	chr18:30501473-30501857	ECC-1	luminal epithelium:	n/a	chr18:30501659-30501670
41	CEBPB	chr18:30443481-30443825	HepG2	liver:	n/a	chr18:30443654-30443665
42	CEBPB	chr18:30500836-30501105	A549	lung:	n/a	chr18:30500944-30500955
43	CEBPB	chr18:30526711-30526869	HepG2	liver:	n/a	n/a
44	CEBPB	chr18:30459412-30459916	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr18:30384457-30384863	HepG2	liver:	n/a	n/a
46	CEBPB	chr18:30382658-30383397	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr18:30383525-30383915	HepG2	liver:	n/a	n/a
48	CEBPB	chr18:30490164-30490541	HepG2	liver:	n/a	chr18:30490237-30490245
49	CEBPB	chr18:30526622-30526902	HepG2	liver:	n/a	n/a
50	CEBPB	chr18:30474738-30475025	IMR90	lung:	n/a	chr18:30474853-30474866 chr18:30474855-30474864 chr18:30474853-30474864 chr18:30474855-30474866

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:30517666-30517716	GM19239	blood:	n/a
2	chr18:30517666-30517716	GM19239	blood:	n/a
3	chr18:30517666-30517716	ovcar-3	ovarian:	n/a
4	chr18:30517666-30517716	HRE	kidney:	n/a
5	chr18:30517666-30517716	BE2_C	brain:	n/a
6	chr18:30517666-30517716	Caco-2	colon:	n/a
7	chr18:30517666-30517716	HMEC	breast:	n/a
8	chr18:30517666-30517716	SKMC	muscle:	n/a
9	chr18:30517666-30517716	MCF-7	breast:	n/a
10	chr18:30517666-30517716	H1-hESC	embryonic stem cell:	embryo
11	chr18:30517666-30517716	SK-N-MC	brain:	n/a
12	chr18:30517666-30517716	PFSK-1	brain:	n/a
13	chr18:30517666-30517716	AG09309	skin:	n/a
14	chr18:30517666-30517716	ProgFib	skin:	n/a
15	chr18:30517666-30517716	HCF	heart:	n/a
16	chr18:30517666-30517716	SAEC	small airway:	n/a
17	chr18:30517666-30517716	LNCaP	prostate:	n/a
18	chr18:30517666-30517716	AG09319	gingival:	n/a
19	chr18:30517666-30517716	SK-N-SH	brain:	n/a
20	chr18:30517666-30517716	HCM	heart:	n/a
21	chr18:30517666-30517716	HL-60	blood:	n/a
22	chr18:30517666-30517716	HepG2	liver:	n/a
23	chr18:30517666-30517716	HEEpiC	esophagus:	n/a
24	chr18:30517666-30517716	Hela-S3	cervix:	n/a
25	chr18:30517666-30517716	GM12891	blood:	n/a
26	chr18:30517666-30517716	PANC-1	pancreas:	n/a
27	chr18:30517666-30517716	NHBE	bronchial:	n/a
28	chr18:30517666-30517716	RPTEC	kidney:	n/a
29	chr18:30517666-30517716	AG10803	skin:	n/a
30	chr18:30517666-30517716	HRPEpiC	eye:	n/a
31	chr18:30517666-30517716	HRCEpiC	kidney:	n/a
32	chr18:30517666-30517716	HUVEC	blood vessel:	n/a
33	chr18:30517666-30517716	NT2-D1	testis:	n/a
34	chr18:30517666-30517716	Hepatocyte	liver:	n/a
35	chr18:30517666-30517716	HIPEpiC	eye:	n/a
36	chr18:30517666-30517716	NB4	blood:	n/a
37	chr18:30517666-30517716	GM06990	blood:	n/a
38	chr18:30517666-30517716	HPAEpiC	pulmonary alveolar:	n/a
39	chr18:30517666-30517716	HCPEpiC	choroid plexus:	n/a
40	chr18:30517666-30517716	NH-A	brain:	n/a
41	chr18:30517666-30517716	BJ	skin:	n/a
42	chr18:30517666-30517716	PrEC	prostate:	n/a
43	chr18:30517666-30517716	SK-N-SH_RA	brain:	n/a
44	chr18:30517666-30517716	AoSMC	blood vessel:	n/a
45	chr18:30517666-30517716	AG04449	skin:	fetal
46	chr18:30517666-30517716	A549	lung:	n/a
47	chr18:30517666-30517716	GM12892	blood:	n/a
48	chr18:30517666-30517716	T-47D	breast:	n/a
49	chr18:30517666-30517716	HEK293	kidney:	embryo
50	chr18:30517666-30517716	CMK	blood:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:30482192..30483831-chr18:30485480..30487269,2	K562	blood:
2	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:
3	chr18:30409135..30412031-chr18:30417054..30419496,2	K562	blood:
4	chr18:30517553..30519382-chr18:30521482..30523955,2	MCF-7	breast:
5	chr18:30445851..30448697-chr18:30721994..30723872,2	K562	blood:
6	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:
7	chr18:30563863..30564576-chr9:2662386..2663024,2	MCF-7	breast:
8	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
9	chr18:30505715..30508318-chr18:30511122..30512749,2	MCF-7	breast:
10	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
11	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:
12	chr18:30381913..30383468-chr18:30387228..30389865,2	K562	blood:
13	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
14	chr18:30381913..30383468-chr18:30387228..30389865,2	K562	blood:
15	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
16	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
17	chr1:144533565..144534495-chr18:30570840..30571340,2	Hela-S3	cervix:
18	chr18:30482192..30483831-chr18:30485480..30487269,2	K562	blood:
19	chr18:30383664..30386047-chr18:30391094..30392679,2	K562	blood:
20	chr18:30155970..30156491-chr18:30499440..30500054,2	MCF-7	breast:
21	chr18:30383664..30386047-chr18:30391094..30392679,2	K562	blood:
22	chr18:30409135..30412031-chr18:30417054..30419496,2	K562	blood:
23	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:
24	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
25	chr18:30505715..30508318-chr18:30511122..30512749,2	MCF-7	breast:
26	chr18:30414875..30417586-chr18:30473319..30475920,2	MCF-7	breast:
27	chr18:30394121..30396172-chr18:30404352..30406060,2	MCF-7	breast:
28	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
29	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
30	chr18:30394121..30396172-chr18:30404352..30406060,2	MCF-7	breast:
31	chr18:30393149..30395095-chr18:30399000..30401863,2	K562	blood:
32	chr18:30517553..30519382-chr18:30521482..30523955,2	MCF-7	breast:
33	chr18:30380048..30381792-chr18:30383645..30386323,2	K562	blood:
34	chr18:30393149..30395095-chr18:30399000..30401863,2	K562	blood:
35	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:

(count:42 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012123.1.1-1	chr18:30413448-30413486	NONHSAT058872
2	lnc-AC012123.1.1-1	chr18:30475192-30475386	NONHSAT058870
3	lnc-AC012123.1.1-1	chr18:30413439-30413486	NONHSAT058871
4	lnc-AC012123.1.1-1	chr18:30414819-30415154	NONHSAT058871
5	lnc-AC012123.1.1-1	chr18:30435135-30435253	ENSG00000263765.1
6	lnc-AC012123.1.1-1	chr18:30473249-30473296	NONHSAT058870
7	lnc-AC012123.1.1-1	chr18:30517950-30518280	ENSG00000263765.1
8	lnc-AC012123.1.1-1	chr18:30414819-30415154	ENSG00000263765.1
9	lnc-AC012123.1.1-1	chr18:30414819-30415154	ENSG00000263765.1
10	lnc-AC012123.1.1-1	chr18:30445996-30446060	NONHSAT058876
11	lnc-AC012123.1.1-1	chr18:30417872-30418141	ENSG00000263765.1
12	lnc-AC012123.1.1-2	chr18:30534470-30534611	ENSG00000263450.1
13	lnc-AC012123.1.1-1	chr18:30492797-30492821	NONHSAT058872
14	lnc-AC012123.1.1-1	chr18:30427401-30427532	ENSG00000263765.1
15	lnc-AC012123.1.1-1	chr18:30467666-30467725	NONHSAT058872
16	lnc-AC012123.1.1-1	chr18:30445950-30445980	NONHSAT058872
17	lnc-AC012123.1.1-1	chr18:30467666-30467725	NONHSAT058876
18	lnc-AC012123.1.1-2	chr18:30537736-30537962	ENSG00000263450.1
19	lnc-AC012123.1.1-1	chr18:30420341-30420403	ENSG00000263765.1
20	lnc-AC012123.1.1-1	chr18:30492797-30492928	ENSG00000263765.1
21	lnc-AC012123.1.1-1	chr18:30473249-30473296	NONHSAT058876
22	lnc-AC012123.1.1-1	chr18:30467666-30467745	NONHSAT058871
23	lnc-AC012123.1.1-1	chr18:30415063-30415154	ENSG00000263765.1
24	lnc-AC012123.1.1-1	chr18:30481478-30481714	NONHSAT058870
25	lnc-AC012123.1.1-1	chr18:30480469-30480577	NONHSAT058870
26	lnc-AC012123.1.1-1	chr18:30473249-30473296	NONHSAT058872
27	lnc-AC012123.1.1-1	chr18:30415982-30416276	ENSG00000263765.1
28	lnc-AC012123.1.1-1	chr18:30475192-30475386	NONHSAT058876
29	lnc-AC012123.1.1-1	chr18:30475192-30475386	NONHSAT058872
30	lnc-AC012123.1.1-2	chr18:30534039-30534050	ENSG00000263450.1
31	lnc-AC012123.1.1-1	chr18:30413439-30413486	NONHSAT058870
32	lnc-AC012123.1.1-1	chr18:30414819-30415154	NONHSAT058870
33	lnc-AC012123.1.1-1	chr18:30415128-30415154	ENSG00000263765.1
34	lnc-AC012123.1.1-1	chr18:30413417-30413486	ENSG00000263765.1
35	lnc-AC012123.1.1-1	chr18:30445950-30445980	NONHSAT058870
36	lnc-AC012123.1.1-2	chr18:30536598-30536774	ENSG00000263450.1
37	lnc-AC012123.1.1-1	chr18:30467666-30467725	NONHSAT058870
38	lnc-AC012123.1.1-1	chr18:30445950-30445980	NONHSAT058871
39	lnc-AC012123.1.1-1	chr18:30414952-30415154	ENSG00000263765.1
40	lnc-AC012123.1.1-1	chr18:30413430-30413486	ENSG00000263765.1
41	lnc-AC012123.1.1-1	chr18:30414823-30415154	NONHSAT058872
42	lnc-AC012123.1.1-1	chr18:30492858-30492929	NONHSAT058876

No data

Variant related genes	Relation type
ENSG00000263450	TF binding region
ENSG00000263765	TF binding region
ENSG00000263450	CpG island
ENSG00000263765	CpG island
ENSG00000201699	chromatin interactions
ENSG00000263765	chromatin interactions

Extended variants
information (count: 3888 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3888 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554068010	chr18:30383345-30383346	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182862102	chr18:30383365-30383366	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1403757	chr18:30383426-30383427	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149169781	chr18:30383429-30383430	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545430834	chr18:30383446-30383447	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111452038	chr18:30383448-30383449	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546663341	chr18:30383449-30383450	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563655435	chr18:30383451-30383452	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs954683	chr18:30383461-30383462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530810116	chr18:30383486-30383487	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542950932	chr18:30383501-30383502	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546022583	chr18:30383616-30383617	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1403758	chr18:30383636-30383637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1403759	chr18:30383643-30383644	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546353506	chr18:30383665-30383666	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149219828	chr18:30383677-30383678	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564645804	chr18:30383688-30383689	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532030820	chr18:30383703-30383704	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550399966	chr18:30383733-30383734	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568875298	chr18:30383774-30383775	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565228623	chr18:30383792-30383793	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535855782	chr18:30383814-30383815	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs1941256	chr18:30383862-30383863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567932399	chr18:30383863-30383864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs187416085	chr18:30383886-30383887	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs553565132	chr18:30383890-30383891	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs146525733	chr18:30383895-30383896	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs539184611	chr18:30383910-30383911	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs147938158	chr18:30383921-30383922	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368192823	chr18:30383975-30383976	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs189926091	chr18:30383981-30383982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs16963869	chr18:30383986-30383987	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs200239907	chr18:30383998-30383999	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs77542888	chr18:30384009-30384010	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572758920	chr18:30384010-30384011	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562892236	chr18:30384018-30384019	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540039110	chr18:30384022-30384023	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182608614	chr18:30384027-30384028	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530384563	chr18:30384043-30384044	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564784156	chr18:30384046-30384047	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs113311992	chr18:30384126-30384127	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77271102	chr18:30384210-30384211	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7226915	chr18:30384211-30384212	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541504388	chr18:30384223-30384224	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186541675	chr18:30384234-30384235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192665087	chr18:30384265-30384266	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147124222	chr18:30384298-30384299	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547311333	chr18:30384315-30384316	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548585477	chr18:30384374-30384375	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571912429	chr18:30384423-30384424	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30380400-30385000	Enhancers	Primary B cells from peripheral blood	blood
2	chr18:30380600-30385200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:30381000-30384400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:30381000-30384800	Enhancers	Primary B cells from cord blood	blood
5	chr18:30382800-30384800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:30383000-30383400	Flanking Active TSS	GM12878-XiMat	blood
7	chr18:30383000-30383600	Flanking Active TSS	HepG2	liver
8	chr18:30383200-30383400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:30383200-30383400	Flanking Active TSS	Fetal Kidney	kidney
10	chr18:30383400-30383600	Enhancers	Fetal Kidney	kidney
11	chr18:30383400-30383600	Enhancers	GM12878-XiMat	blood
12	chr18:30383400-30384400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:30383400-30384600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:30383400-30385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:30383600-30383800	Flanking Active TSS	Fetal Kidney	kidney
16	chr18:30383600-30383800	Flanking Active TSS	GM12878-XiMat	blood
17	chr18:30383600-30384000	Enhancers	HepG2	liver
18	chr18:30383800-30384000	Enhancers	GM12878-XiMat	blood
19	chr18:30383800-30385000	Enhancers	Fetal Kidney	kidney
20	chr18:30384000-30384400	Flanking Active TSS	HepG2	liver
21	chr18:30384400-30384800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:30384400-30389000	Enhancers	HepG2	liver
23	chr18:30385000-30387800	Weak transcription	Fetal Kidney	kidney
24	chr18:30387800-30388600	Enhancers	Fetal Kidney	kidney
25	chr18:30392000-30392200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:30392200-30392600	Enhancers	Fetal Heart	heart
27	chr18:30392200-30392800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:30395800-30396600	Enhancers	Primary B cells from peripheral blood	blood
29	chr18:30396000-30396600	Enhancers	HepG2	liver
30	chr18:30396000-30396800	Enhancers	Primary B cells from cord blood	blood
31	chr18:30399800-30400000	Enhancers	Esophagus	oesophagus
32	chr18:30411200-30412200	Enhancers	Fetal Brain Male	brain
33	chr18:30411400-30412200	Enhancers	Fetal Brain Female	brain
34	chr18:30411600-30412400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:30420400-30421600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr18:30420400-30421600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr18:30420600-30421000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:30420600-30421800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr18:30420800-30421200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr18:30420800-30421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:30420800-30421400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr18:30420800-30421600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr18:30420800-30421600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr18:30420800-30421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr18:30421000-30421600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr18:30426800-30428200	Enhancers	Fetal Brain Male	brain
47	chr18:30427000-30427200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:30427000-30428400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr18:30427000-30428600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr18:30427000-30429200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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