Variant report

Variant	nsv909389
Chromosome Location	chr18:11987988-12141625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2626)
CpG islands
(count:1650)
Chromatin interactive
region (count:81)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2626 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12038970-12039222	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:11994407-11994903	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:12008355-12008698	HepG2	liver:	n/a	n/a
4	ATF2	chr18:12050101-12050661	GM12878	blood:	n/a	n/a
5	ATF2	chr18:12049934-12050725	GM12878	blood:	n/a	n/a
6	BACH1	chr18:12038354-12039412	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr18:12121571-12121835	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr18:11994815-11995014	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr18:12099205-12099435	GM12878	blood:	n/a	chr18:12099366-12099376
10	BATF	chr18:12005731-12006073	GM12878	blood:	n/a	chr18:12005927-12005937 chr18:12005953-12005963 chr18:12005926-12005937
11	BATF	chr18:12098377-12098759	GM12878	blood:	n/a	n/a
12	BATF	chr18:12099233-12099447	GM12878	blood:	n/a	chr18:12099366-12099376
13	BATF	chr18:12098406-12098669	GM12878	blood:	n/a	n/a
14	BATF	chr18:12050086-12050579	GM12878	blood:	n/a	chr18:12050210-12050218
15	BATF	chr18:12053382-12053605	GM12878	blood:	n/a	n/a
16	BCL11A	chr18:12050008-12050716	GM12878	blood:	n/a	chr18:12050475-12050484 chr18:12050034-12050043
17	BCL11A	chr18:12050100-12050656	GM12878	blood:	n/a	chr18:12050475-12050484
18	BCL3	chr18:12098402-12098798	GM12878	blood:	n/a	n/a
19	BCL3	chr18:12023118-12023602	GM12878	blood:	n/a	n/a
20	BCLAF1	chr18:12050246-12050601	GM12878	blood:	n/a	chr18:12050475-12050484
21	BHLHE40	chr18:11987633-11988016	K562	blood:	n/a	n/a
22	BHLHE40	chr18:12038953-12039346	K562	blood:	n/a	n/a
23	BHLHE40	chr18:12039063-12039336	A549	lung:	n/a	n/a
24	BHLHE40	chr18:12034442-12034586	K562	blood:	n/a	n/a
25	BHLHE40	chr18:11994362-11995230	HepG2	liver:	n/a	n/a
26	BHLHE40	chr18:12038962-12039336	HepG2	liver:	n/a	n/a
27	BHLHE40	chr18:11995507-11995749	GM12878	blood:	n/a	n/a
28	BHLHE40	chr18:12092799-12093072	K562	blood:	n/a	chr18:12093050-12093066
29	BHLHE40	chr18:12038981-12039317	GM12878	blood:	n/a	n/a
30	BHLHE40	chr18:12008250-12009049	HepG2	liver:	n/a	chr18:12008904-12008920
31	BHLHE40	chr18:12121724-12122063	K562	blood:	n/a	n/a
32	BHLHE40	chr18:12050097-12050797	GM12878	blood:	n/a	n/a
33	BHLHE40	chr18:11995405-11995960	K562	blood:	n/a	n/a
34	BRCA1	chr18:12039018-12039303	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr18:12092817-12092876	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr18:12038991-12039387	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr18:11989299-11989343	HepG2	liver:	n/a	n/a
38	BRCA1	chr18:11994404-11994734	Hela-S3	cervix:	n/a	n/a
39	CCNT2	chr18:12039004-12039265	K562	blood:	n/a	n/a
40	CCNT2	chr18:12076645-12076788	K562	blood:	n/a	n/a
41	CCNT2	chr18:11995458-11995739	K562	blood:	n/a	n/a
42	CCNT2	chr18:12092914-12093043	K562	blood:	n/a	n/a
43	CEBPB	chr18:11994402-11994598	HepG2	liver:	n/a	n/a
44	CEBPB	chr18:12013302-12013366	HepG2	liver:	n/a	n/a
45	CEBPB	chr18:12067926-12068149	K562	blood:	n/a	n/a
46	CEBPB	chr18:12035148-12035179	HepG2	liver:	n/a	chr18:12035158-12035169
47	CEBPB	chr18:12008328-12008616	HepG2	liver:	n/a	n/a
48	CEBPB	chr18:12011847-12012042	IMR90	lung:	n/a	n/a
49	CEBPB	chr18:12027584-12027784	K562	blood:	n/a	chr18:12027630-12027641
50	CEBPB	chr18:12027530-12027785	A549	lung:	n/a	chr18:12027630-12027641

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12077147-12077197	HRCEpiC	kidney:	n/a
2	chr18:12038128-12038178	Caco-2	colon:	n/a
3	chr18:12041356-12041406	Hela-S3	cervix:	n/a
4	chr18:12077147-12077197	HRCEpiC	kidney:	n/a
5	chr18:12038128-12038178	Caco-2	colon:	n/a
6	chr18:12041356-12041406	Hela-S3	cervix:	n/a
7	chr18:12095187-12095237	SK-N-SH	brain:	n/a
8	chr18:12038580-12038630	AG09309	skin:	n/a
9	chr18:12039173-12039223	ECC-1	luminal epithelium:	n/a
10	chr18:12064388-12064438	T-47D	breast:	n/a
11	chr18:12073455-12073505	HRE	kidney:	n/a
12	chr18:12068363-12068413	SK-N-MC	brain:	n/a
13	chr18:12068363-12068413	AoSMC	blood vessel:	n/a
14	chr18:12068099-12068149	HCPEpiC	choroid plexus:	n/a
15	chr18:12041672-12041722	BE2_C	brain:	n/a
16	chr18:12076435-12076485	SAEC	small airway:	n/a
17	chr18:12067067-12067117	AG09319	gingival:	n/a
18	chr18:12039289-12039339	RPTEC	kidney:	n/a
19	chr18:12068065-12068115	BJ	skin:	n/a
20	chr18:12041356-12041406	NHBE	bronchial:	n/a
21	chr18:12095187-12095237	GM12878	blood:	n/a
22	chr18:12041672-12041722	GM06990	blood:	n/a
23	chr18:12035841-12035891	SK-N-MC	brain:	n/a
24	chr18:12039173-12039223	RPTEC	kidney:	n/a
25	chr18:12041356-12041406	LNCaP	prostate:	n/a
26	chr18:12093625-12093675	GM12892	blood:	n/a
27	chr18:12068065-12068115	AoSMC	blood vessel:	n/a
28	chr18:12072395-12072445	SK-N-SH_RA	brain:	n/a
29	chr18:12095187-12095237	AG09309	skin:	n/a
30	chr18:12092942-12092992	AG04450	lung:	fetal
31	chr18:12068884-12068934	HepG2	liver:	n/a
32	chr18:12076435-12076485	U87	brain:	n/a
33	chr18:12041672-12041722	PrEC	prostate:	n/a
34	chr18:12039289-12039339	HRCEpiC	kidney:	n/a
35	chr18:12090210-12090260	A549	lung:	n/a
36	chr18:12068884-12068934	SK-N-SH_RA	brain:	n/a
37	chr18:12073455-12073505	HEEpiC	esophagus:	n/a
38	chr18:12076365-12076415	GM12892	blood:	n/a
39	chr18:12068363-12068413	HCT-116	colon:	n/a
40	chr18:12035841-12035891	SKMC	muscle:	n/a
41	chr18:12076365-12076415	GM12878	blood:	n/a
42	chr18:12097776-12097826	BJ	skin:	n/a
43	chr18:12064388-12064438	HepG2	liver:	n/a
44	chr18:12076365-12076415	HCF	heart:	n/a
45	chr18:12095187-12095237	HNPCEpiC	eye:	n/a
46	chr18:12041356-12041406	HUVEC	blood vessel:	n/a
47	chr18:12093809-12093859	HCPEpiC	choroid plexus:	n/a
48	chr18:12076476-12076526	T-47D	breast:	n/a
49	chr18:12076435-12076485	AoSMC	blood vessel:	n/a
50	chr18:12041672-12041722	Caco-2	colon:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:12006542..12008097-chr18:12010125..12012103,2	MCF-7	breast:
2	chr18:12035639..12037274-chr18:12041657..12044195,2	MCF-7	breast:
3	chr18:12084453..12086286-chr18:12088021..12090033,2	K562	blood:
4	chr18:11907841..11909998-chr18:12042409..12044684,2	MCF-7	breast:
5	chr18:11978630..11983643-chr18:11987662..11991726,6	MCF-7	breast:
6	chr18:11992964..11995381-chr18:12038056..12040567,2	MCF-7	breast:
7	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
8	chr18:12028430..12032053-chr18:12032793..12035686,4	K562	blood:
9	chr18:11908518..11911302-chr18:12009524..12011140,2	MCF-7	breast:
10	chr18:11980409..11982733-chr18:12000463..12003199,2	MCF-7	breast:
11	chr18:12035639..12037274-chr18:12041657..12044195,2	MCF-7	breast:
12	chr18:12088519..12091150-chr18:12096385..12097943,2	K562	blood:
13	chr18:12120897..12121609-chr22:17160804..17161481,3	MCF-7	breast:
14	chr18:12092426..12095170-chr18:12097480..12099654,2	K562	blood:
15	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
16	chr18:12000492..12002135-chr18:12004782..12007391,2	MCF-7	breast:
17	chr18:12092475..12093363-chr18:12121230..12121778,4	MCF-7	breast:
18	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
19	chr18:12015892..12018624-chr18:12025559..12027409,2	K562	blood:
20	chr18:12006195..12007713-chr18:12008084..12010111,2	MCF-7	breast:
21	chr18:12107653..12109609-chr18:12114882..12116934,2	K562	blood:
22	chr18:12094191..12096366-chr18:12113967..12116717,2	MCF-7	breast:
23	chr18:11937557..11938334-chr18:12038177..12039385,5	K562	blood:
24	chr18:11654951..11655937-chr18:12038618..12039570,4	MCF-7	breast:
25	chr18:12119299..12121034-chr18:12123082..12124691,2	K562	blood:
26	chr18:11992964..11995381-chr18:12038056..12040567,2	MCF-7	breast:
27	chr18:12017282..12018907-chr18:12020565..12022522,2	K562	blood:
28	chr18:11732574..11733777-chr18:12038625..12039612,8	K562	blood:
29	chr18:11993860..11995510-chr18:12012854..12014653,2	K562	blood:
30	chr18:12102586..12107654-chr18:12108102..12111487,4	K562	blood:
31	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
32	chr18:11937069..11938706-chr18:11995081..11996087,16	MCF-7	breast:
33	chr18:11937505..11938532-chr18:12038635..12039615,5	MCF-7	breast:
34	chr18:12094117..12094711-chr18:12236525..12237062,2	K562	blood:
35	chr18:11979089..11980849-chr18:12109709..12111299,2	K562	blood:
36	chr18:11978843..11982198-chr18:12003396..12007810,5	MCF-7	breast:
37	chr18:12119299..12121034-chr18:12123082..12124691,2	K562	blood:
38	chr18:11980368..11983094-chr18:12003809..12006804,4	MCF-7	breast:
39	chr18:12076450..12076959-chr4:22517248..22517778,2	HCT-116	colon:
40	chr18:12000492..12002135-chr18:12004782..12007391,2	MCF-7	breast:
41	chr18:12084453..12086286-chr18:12088021..12090033,2	K562	blood:
42	chr18:12005936..12008667-chr18:12037616..12040479,2	MCF-7	breast:
43	chr18:11994002..11996965-chr18:12008009..12011015,3	MCF-7	breast:
44	chr18:12017282..12018907-chr18:12020565..12022522,2	K562	blood:
45	chr18:11987852..11990240-chr18:11991809..11994085,2	K562	blood:
46	chr18:12038572..12040680-chr18:12043555..12046070,2	MCF-7	breast:
47	chr18:11990931..11993747-chr18:11994140..11995765,2	K562	blood:
48	chr18:12092426..12095170-chr18:12097480..12099654,2	K562	blood:
49	chr18:12094191..12096366-chr18:12113967..12116717,2	MCF-7	breast:
50	chr18:12097992..12100907-chr18:12104911..12107291,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD62-2	chr18:12085171-12085266	ENSG00000267722.1
2	lnc-AP002414.1.1-1	chr18:12031915-12032132	XLOC_012773
3	lnc-AP002414.1.1-1	chr18:12031121-12031164	XLOC_012773
4	lnc-AP002414.1.1-1	chr18:12031695-12032180	ENSG00000267480.1
5	lnc-AP002414.1.1-1	chr18:12031177-12031217	ENSG00000267480.1
6	lnc-ANKRD62-2	chr18:12081539-12081657	ENSG00000267722.1
7	lnc-ANKRD62-2	chr18:12081796-12081838	ENSG00000267722.1
8	lnc-AP002414.1.1-3	chr18:12101996-12102469	NONHSAT058342
9	lnc-AP002414.1.1-4	chr18:11993987-11994371	ENSG00000266955.1
10	lnc-ANKRD62-1	chr18:12074792-12075074	XLOC_012628
11	lnc-ANKRD62-1	chr18:12073319-12073537	XLOC_012628
12	lnc-AP002414.1.1-4	chr18:11994795-11994937	ENSG00000266955.1

No data

Variant related genes	Relation type
ENSG00000267162	TF binding region
ENSG00000267292	TF binding region
ENSG00000267722	TF binding region
ANKRD62	TF binding region
ENSG00000266995	TF binding region
ENSG00000256616	TF binding region
ENSG00000267533	TF binding region
RNU6-324P	TF binding region
ENSG00000266955	TF binding region
ENSG00000267478	TF binding region
ENSG00000212712	TF binding region
ENSG00000267480	TF binding region
IMPA2	TF binding region
ENSG00000267162	CpG island
ENSG00000267292	CpG island
ENSG00000267722	CpG island
ANKRD62	CpG island
ENSG00000266995	CpG island
ENSG00000256616	CpG island
ENSG00000267533	CpG island
RNU6-324P	CpG island
ENSG00000266955	CpG island
ENSG00000267478	CpG island
ENSG00000212712	CpG island
ENSG00000267480	CpG island
IMPA2	CpG island
ENSG00000152990	chromatin interactions
ENSG00000255112	chromatin interactions
ENSG00000267079	chromatin interactions
ENSG00000266955	chromatin interactions
ENSG00000266995	chromatin interactions
ENSG00000273141	chromatin interactions
ENSG00000154889	chromatin interactions
ENSG00000267663	chromatin interactions
ENSG00000141401	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000212712	chromatin interactions
ENSG00000200827	chromatin interactions
ENSG00000181626	chromatin interactions
ENSG00000267478	chromatin interactions

Extended variants
information (count: 5804 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5804 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6505700	chr18:11987988-11987989	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371923121	chr18:11988000-11988001	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372836810	chr18:11988001-11988002	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79885262	chr18:11988021-11988022	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71172043	chr18:11988022-11988023	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79139836	chr18:11988023-11988024	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576730498	chr18:11988044-11988045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35066270	chr18:11988055-11988056	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370481281	chr18:11988068-11988069	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540827416	chr18:11988090-11988091	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185956568	chr18:11988097-11988098	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6505701	chr18:11988098-11988099	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1249900	chr18:11988101-11988102	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543085604	chr18:11988107-11988108	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190610427	chr18:11988114-11988115	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1249899	chr18:11988130-11988131	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1249898	chr18:11988252-11988253	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531725527	chr18:11988260-11988261	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374037217	chr18:11988442-11988443	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528538029	chr18:11988460-11988461	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550244510	chr18:11988510-11988511	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56364728	chr18:11988517-11988518	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532857603	chr18:11988554-11988555	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182325313	chr18:11988564-11988565	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566245502	chr18:11988565-11988566	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76345278	chr18:11988605-11988606	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114933598	chr18:11988609-11988610	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs67932171	chr18:11988637-11988638	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146804938	chr18:11988685-11988686	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558140209	chr18:11988768-11988769	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139520716	chr18:11988800-11988801	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541338949	chr18:11988801-11988802	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9973177	chr18:11988855-11988856	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187407555	chr18:11988861-11988862	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190846933	chr18:11988871-11988872	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115299195	chr18:11988916-11988917	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75459253	chr18:11989016-11989017	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62099888	chr18:11989018-11989019	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76459109	chr18:11989025-11989026	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565303768	chr18:11989036-11989037	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532432612	chr18:11989053-11989054	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369307196	chr18:11989094-11989095	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548057475	chr18:11989095-11989096	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566285926	chr18:11989096-11989097	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111536039	chr18:11989128-11989129	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548378576	chr18:11989131-11989132	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111439229	chr18:11989266-11989267	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146544894	chr18:11989267-11989268	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558101205	chr18:11989307-11989308	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs8086581	chr18:11989362-11989363	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:2828 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
3	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
4	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
5	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
6	chr18:11983400-11989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:11983400-11989200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr18:11983400-11989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11983400-11994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:11983600-11989400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:11984000-11989000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:11984200-11988200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr18:11984200-11988400	Weak transcription	Fetal Intestine Large	intestine
14	chr18:11984200-11989800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:11984200-11993600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:11984200-11994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:11984400-11988400	Weak transcription	Esophagus	oesophagus
18	chr18:11984400-11988800	Weak transcription	Colonic Mucosa	Colon
19	chr18:11984400-11989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:11984400-11989200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:11984400-11989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:11984400-11989600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:11984400-11990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:11984400-11990400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:11984400-11993400	Weak transcription	Lung	lung
26	chr18:11984400-11994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:11984400-11994200	Weak transcription	NHEK	skin
28	chr18:11984400-11995000	Weak transcription	GM12878-XiMat	blood
29	chr18:11984600-11988400	Weak transcription	HSMMtube	muscle
30	chr18:11984600-11988600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr18:11984600-11989800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:11985200-11991200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:11986000-11990400	Weak transcription	Fetal Kidney	kidney
34	chr18:11986000-11995600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:11986400-11988800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr18:11986400-11989200	Weak transcription	Gastric	stomach
37	chr18:11986400-11990000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:11986400-11994600	Weak transcription	Liver	Liver
39	chr18:11986600-11988000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr18:11986600-11988600	Weak transcription	Left Ventricle	heart
41	chr18:11986600-11988800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr18:11986600-11988800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr18:11986600-11989200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:11986600-11989400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr18:11986600-11990800	Weak transcription	Ovary	ovary
46	chr18:11986800-11988000	Enhancers	Stomach Smooth Muscle	stomach
47	chr18:11986800-11988400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr18:11986800-11990200	Enhancers	A549	lung
49	chr18:11986800-11992800	Enhancers	Fetal Muscle Trunk	muscle
50	chr18:11987000-11988600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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