Variant report

Variant	nsv1059509
Chromosome Location	chr18:11543-190140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2180)
CpG islands
(count:2075)
Chromatin interactive
region (count:51)
LncRNA
region (count:25)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:150435-150550	K562	blood:	n/a	n/a
2	ARID3A	chr18:107287-109941	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:189173-189528	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:158435-158687	HepG2	liver:	n/a	n/a
5	ATF1	chr18:158332-158983	K562	blood:	n/a	n/a
6	ATF1	chr18:105826-111809	K562	blood:	n/a	n/a
7	ATF2	chr18:97223-97518	GM12878	blood:	n/a	n/a
8	ATF3	chr18:158111-158789	GM12878	blood:	n/a	chr18:158290-158310
9	ATF3	chr18:158422-158663	GM12878	blood:	n/a	n/a
10	ATF3	chr18:158161-158396	K562	blood:	n/a	chr18:158290-158310
11	ATF3	chr18:136445-136704	GM12878	blood:	n/a	n/a
12	ATF3	chr18:158422-158737	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr18:107378-109855	HCT-116	colon:	n/a	n/a
14	ATF3	chr18:106389-111960	K562	blood:	n/a	n/a
15	ATF3	chr18:136437-136714	K562	blood:	n/a	n/a
16	ATF3	chr18:158258-158725	K562	blood:	n/a	chr18:158290-158310
17	ATF3	chr18:107200-107919	HepG2	liver:	n/a	n/a
18	ATF3	chr18:97235-97537	GM12878	blood:	n/a	n/a
19	ATF3	chr18:135063-135303	K562	blood:	n/a	n/a
20	ATF3	chr18:158130-158721	HepG2	liver:	n/a	chr18:158290-158310
21	ATF3	chr18:107364-110091	GM12878	blood:	n/a	n/a
22	ATF3	chr18:158407-159043	K562	blood:	n/a	n/a
23	ATF3	chr18:107931-109810	HepG2	liver:	n/a	n/a
24	ATF3	chr18:107408-107953	HCT-116	colon:	n/a	n/a
25	ATF3	chr18:158201-158395	H1-hESC	embryonic stem cell:	n/a	chr18:158290-158310
26	ATF3	chr18:158306-158739	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr18:107976-109797	HCT-116	colon:	n/a	n/a
28	ATF3	chr18:107310-109748	A549	lung:	n/a	n/a
29	ATF3	chr18:158269-158734	HepG2	liver:	n/a	chr18:158290-158310
30	ATF3	chr18:158218-158388	GM12878	blood:	n/a	chr18:158290-158310
31	BACH1	chr18:158368-159507	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr18:158834-159144	K562	blood:	n/a	n/a
33	BACH1	chr18:158476-158601	K562	blood:	n/a	n/a
34	BATF	chr18:120902-121146	GM12878	blood:	n/a	n/a
35	BATF	chr18:120882-121225	GM12878	blood:	n/a	n/a
36	BATF	chr18:67736-68077	GM12878	blood:	n/a	n/a
37	BATF	chr18:32504-32766	GM12878	blood:	n/a	n/a
38	BATF	chr18:96629-97637	GM12878	blood:	n/a	n/a
39	BCL11A	chr18:96620-97265	GM12878	blood:	n/a	n/a
40	BCL3	chr18:110891-111732	K562	blood:	n/a	n/a
41	BCL3	chr18:106509-110715	K562	blood:	n/a	n/a
42	BCL3	chr18:106400-110875	GM12878	blood:	n/a	n/a
43	BCLAF1	chr18:157980-158727	K562	blood:	n/a	n/a
44	BHLHE40	chr18:135186-135244	K562	blood:	n/a	n/a
45	BHLHE40	chr18:90364-90663	HepG2	liver:	n/a	n/a
46	BHLHE40	chr18:136576-136718	HepG2	liver:	n/a	n/a
47	BHLHE40	chr18:158221-158775	HepG2	liver:	n/a	n/a
48	BHLHE40	chr18:140878-141078	HepG2	liver:	n/a	n/a
49	BHLHE40	chr18:158165-158808	GM12878	blood:	n/a	n/a
50	BHLHE40	chr18:158201-159060	K562	blood:	n/a	n/a

(count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:158348-158398	ovcar-3	ovarian:	n/a
2	chr18:158348-158398	ovcar-3	ovarian:	n/a
3	chr18:158838-158888	U87	brain:	n/a
4	chr18:48912-48962	HPAEpiC	pulmonary alveolar:	n/a
5	chr18:158292-158342	ovcar-3	ovarian:	n/a
6	chr18:73562-73612	HEK293	kidney:	embryo
7	chr18:48912-48962	HCT-116	colon:	n/a
8	chr18:49898-49948	PANC-1	pancreas:	n/a
9	chr18:12437-12487	SK-N-SH_RA	brain:	n/a
10	chr18:159310-159360	RPTEC	kidney:	n/a
11	chr18:158348-158398	HAEpiC	amniotic membrane:	n/a
12	chr18:75734-75784	SK-N-SH_RA	brain:	n/a
13	chr18:70529-70579	HPAEpiC	pulmonary alveolar:	n/a
14	chr18:158292-158342	HNPCEpiC	eye:	n/a
15	chr18:11724-11774	AG09319	gingival:	n/a
16	chr18:159310-159360	A549	lung:	n/a
17	chr18:111826-111876	BE2_C	brain:	n/a
18	chr18:11855-11905	HNPCEpiC	eye:	n/a
19	chr18:163067-163117	AG04450	lung:	fetal
20	chr18:163067-163117	HMEC	breast:	n/a
21	chr18:158292-158342	HCT-116	colon:	n/a
22	chr18:155309-155359	SK-N-MC	brain:	n/a
23	chr18:158229-158279	NT2-D1	testis:	n/a
24	chr18:158463-158513	NHDF-neo	bronchial:	n/a
25	chr18:73258-73308	HIPEpiC	eye:	n/a
26	chr18:12371-12421	HEK293	kidney:	embryo
27	chr18:11855-11905	HEEpiC	esophagus:	n/a
28	chr18:76108-76158	MCF10A-Er-Src	breast:	n/a
29	chr18:49898-49948	HRCEpiC	kidney:	n/a
30	chr18:158011-158061	AG10803	skin:	n/a
31	chr18:73258-73308	Jurkat	blood:	n/a
32	chr18:11855-11905	MCF-7	breast:	n/a
33	chr18:158294-158344	NHDF-neo	bronchial:	n/a
34	chr18:73159-73209	SKMC	muscle:	n/a
35	chr18:158551-158601	AG04450	lung:	fetal
36	chr18:73037-73087	GM06990	blood:	n/a
37	chr18:76108-76158	SKMC	muscle:	n/a
38	chr18:75692-75742	GM12892	blood:	n/a
39	chr18:158348-158398	A549	lung:	n/a
40	chr18:73037-73087	HMEC	breast:	n/a
41	chr18:158551-158601	AG10803	skin:	n/a
42	chr18:49313-49363	SK-N-SH_RA	brain:	n/a
43	chr18:163067-163117	GM12891	blood:	n/a
44	chr18:48912-48962	Hela-S3	cervix:	n/a
45	chr18:158229-158279	H1-hESC	embryonic stem cell:	embryo
46	chr18:73159-73209	HCT-116	colon:	n/a
47	chr18:75505-75555	HCT-116	colon:	n/a
48	chr18:73159-73209	HUVEC	blood vessel:	n/a
49	chr18:73159-73209	HNPCEpiC	eye:	n/a
50	chr18:111826-111876	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr18:164137..168777-chr18:169771..171938,5	K562	blood:
2	chr18:181732..184561-chr18:191775..193318,2	K562	blood:
3	chr18:138088..139627-chr20:49345549..49348448,2	MCF-7	breast:
4	chr18:158132..161790-chr18:177799..183224,6	K562	blood:
5	chr18:107798..109802-chr21:9825669..9828382,2	MCF-7	breast:
6	chr18:169841..172227-chr18:180107..182467,2	K562	blood:
7	chr18:175956..178936-chr18:178964..180560,2	K562	blood:
8	chr18:164894..167848-chr18:172518..174416,3	K562	blood:
9	chr18:181273..184246-chr18:226060..228939,2	K562	blood:
10	chr1:229644060..229644762-chr18:153612..154112,2	HCT-116	colon:
11	chr18:164894..167848-chr18:172518..174416,3	K562	blood:
12	chr14:70233601..70234234-chr18:157797..158549,2	Hela-S3	cervix:
13	chr18:155065..156905-chr18:157468..160011,3	K562	blood:
14	chr18:145450..147918-chr18:815829..817789,2	K562	blood:
15	chr18:139586..141641-chr18:148416..149949,2	K562	blood:
16	chr18:160787..162407-chr18:176462..179044,2	K562	blood:
17	chr18:148615..151946-chr18:155352..158851,3	K562	blood:
18	chr18:169841..172227-chr18:180107..182467,2	K562	blood:
19	chr18:173629..175507-chr18:185992..188221,2	MCF-7	breast:
20	chr18:180232..183559-chr18:185783..188549,3	K562	blood:
21	chr18:134984..136736-chr18:140752..143345,2	K562	blood:
22	chr18:152262..154737-chr18:158515..160413,2	K562	blood:
23	chr18:172540..174181-chr18:176241..178456,2	K562	blood:
24	chr18:141525..143923-chr18:160153..163099,2	K562	blood:
25	chr18:110119..112537-chr18:266561..268595,2	MCF-7	breast:
26	chr18:187241..189505-chr18:246011..247661,2	K562	blood:
27	chr18:134984..136736-chr18:140752..143345,2	K562	blood:
28	chr18:172540..174181-chr18:176241..178456,2	K562	blood:
29	chr18:158417..159997-chr18:214475..216956,2	K562	blood:
30	chr1:227727685..227728349-chr18:13120..13866,2	MCF-7	breast:
31	chr18:151636..153616-chr18:156917..159061,2	MCF-7	breast:
32	chr18:180232..183559-chr18:185783..188549,3	K562	blood:
33	chr18:154974..156565-chr18:158511..161131,2	K562	blood:
34	chr18:181284..183295-chr18:192261..194255,2	K562	blood:
35	chr18:164137..168777-chr18:169771..171938,5	K562	blood:
36	chr18:111421..112329-chr18:158239..158948,2	K562	blood:
37	chr18:185477..188373-chr18:192212..194752,2	K562	blood:
38	chr18:175956..178936-chr18:178964..180560,2	K562	blood:
39	chr18:159584..161282-chr18:196677..199436,2	K562	blood:
40	chr18:141525..143923-chr18:160153..163099,2	K562	blood:
41	chr18:175173..178003-chr18:178964..182067,3	K562	blood:
42	chr18:158012..160007-chr18:265808..268303,2	MCF-7	breast:
43	chr18:148954..152289-chr18:157038..160198,3	MCF-7	breast:
44	chr18:160787..162407-chr18:176462..179044,2	K562	blood:
45	chr18:157295..159730-chr18:266988..268701,2	MCF-7	breast:
46	chr10:135498700..135499569-chr18:110892..111804,2	MCF-7	breast:
47	chr18:139586..141641-chr18:148416..149949,2	K562	blood:
48	chr18:158226..159980-chr18:161322..163085,2	MCF-7	breast:
49	chr18:173629..175507-chr18:185992..188221,2	MCF-7	breast:
50	chr18:175173..178003-chr18:178964..182067,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-683L23.1.1-4	chr18:86111-86282	NONHSAT056824
2	lnc-RP11-683L23.1.1-1	chr18:50421-50549	ENSG00000262735.1
3	lnc-RP11-683L23.1.1-2	chr18:14851-14870	XLOC_012737
4	lnc-USP14-7	chr18:45283-45556	NONHSAT056821
5	lnc-RP11-683L23.1.1-1	chr18:73312-73517	ENSG00000262735.1
6	lnc-RP11-683L23.1.1-1	chr18:49900-50225	ENSG00000262735.1
7	lnc-RP11-683L23.1.1-4	chr18:86398-86509	NONHSAT056824
8	lnc-RP11-683L23.1.1-4	chr18:84043-84148	NONHSAT056824
9	lnc-USP14-1	chr18:137413-137523	XLOC_012600
10	lnc-RP11-683L23.1.1-2	chr18:16856-16898	ENSG00000263305.1
11	lnc-RP11-683L23.1.1-2	chr18:14195-14653	ENSG00000263305.1
12	lnc-RP11-683L23.1.1-2	chr18:14294-14653	XLOC_012737
13	lnc-USP14-1	chr18:141481-142123	NONHSAT056828
14	lnc-USP14-1	chr18:137354-137523	NONHSAT056828
15	lnc-USP14-1	chr18:141481-141924	XLOC_012600
16	lnc-USP14-7	chr18:45004-45235	NONHSAT056821
17	lnc-RP11-683L23.1.1-4	chr18:86930-87066	NONHSAT056824
18	lnc-RP11-683L23.1.1-1	chr18:73312-73545	ENSG00000262735.1
19	lnc-RP11-683L23.1.1-4	chr18:84729-84910	NONHSAT056824
20	lnc-RP11-683L23.1.1-4	chr18:80140-80453	NONHSAT056824
21	lnc-RP11-683L23.1.1-4	chr18:88460-88570	NONHSAT056824
22	lnc-RP11-683L23.1.1-2	chr18:14490-14653	ENSG00000263305.1
23	lnc-RP11-683L23.1.1-1	chr18:49815-49866	ENSG00000262735.1
24	lnc-RP11-683L23.1.1-2	chr18:14851-14958	ENSG00000263305.1
25	lnc-RP11-683L23.1.1-4	chr18:85588-85701	NONHSAT056824

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8078	chr18:112266-112288	MIMAT0031005

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ROCK1	hsa-miR-148b-3p	chr18:121558-121578

Variant related genes	Relation type
ENSG00000263305	TF binding region
ROCK1P1	TF binding region
USP14	TF binding region
ENSG00000262181	TF binding region
IL9RP4	TF binding region
ENSG00000173213	TF binding region
ENSG00000263305	CpG island
ROCK1P1	CpG island
USP14	CpG island
ENSG00000262181	CpG island
IL9RP4	CpG island
ENSG00000173213	CpG island
ENSG00000101557	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000263884	chromatin interactions
ENSG00000079134	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000069248	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000223635	chromatin interactions

Extended variants
information (count: 5593 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:5593 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7235612	chr18:11543-11544	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569830649	chr18:11544-11545	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs67835912	chr18:11555-11556	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537960576	chr18:11562-11563	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573282806	chr18:11575-11576	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111765915	chr18:11603-11604	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542221225	chr18:11620-11621	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7235758	chr18:11631-11632	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568483432	chr18:11643-11644	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191072705	chr18:11651-11652	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386800078	chr18:11652-11653	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554185070	chr18:11666-11667	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572809356	chr18:11668-11669	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540114590	chr18:11669-11670	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7235782	chr18:11671-11672	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12327046	chr18:11674-11675	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560507496	chr18:11699-11700	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576533986	chr18:11739-11740	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs367750199	chr18:11740-11741	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111380388	chr18:11750-11751	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561410738	chr18:11760-11761	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573321724	chr18:11771-11772	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7235937	chr18:11780-11781	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369631705	chr18:11803-11804	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558915779	chr18:11804-11805	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12327307	chr18:11816-11817	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71172190	chr18:11822-11823	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117856375	chr18:11835-11836	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533123189	chr18:11846-11847	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551606345	chr18:11853-11854	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375258564	chr18:11855-11856	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114272421	chr18:11860-11861	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6505962	chr18:11882-11883	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563349038	chr18:11896-11897	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530699431	chr18:11897-11898	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114912759	chr18:11907-11908	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550030239	chr18:11923-11924	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568594463	chr18:11931-11932	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535935138	chr18:11947-11948	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7242707	chr18:11956-11957	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547850081	chr18:11990-11991	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566073109	chr18:11996-11997	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370440306	chr18:11997-11998	Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539747624	chr18:12002-12003	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113956585	chr18:12007-12008	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181774303	chr18:12008-12009	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186176929	chr18:12018-12019	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576576418	chr18:12035-12036	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537622545	chr18:12059-12060	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555526935	chr18:12065-12066	Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	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
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
Schizophrenia	23813976	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:1722 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10000-13600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:10400-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:10600-11800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:10800-14000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:11200-11600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr18:11200-11800	Flanking Active TSS	Placenta	Placenta
7	chr18:11200-12000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr18:11200-12600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:11200-13600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:11200-14200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr18:11600-11800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr18:11800-12200	Enhancers	Placenta	Placenta
13	chr18:11800-12600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:12000-13400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr18:12600-13400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:13200-13400	Enhancers	Gastric	stomach
17	chr18:13800-14000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr18:36000-36400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr18:36000-36400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr18:50600-51600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr18:63400-63600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr18:63400-64000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:63400-64000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:63600-63800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr18:63600-63800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:63600-63800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
27	chr18:63600-63800	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr18:63600-63800	ZNF genes & repeats	Fetal Brain Male	brain
29	chr18:63600-63800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
30	chr18:63600-63800	Enhancers	Right Ventricle	heart
31	chr18:63600-63800	Flanking Bivalent TSS/Enh	Spleen	Spleen
32	chr18:63600-63800	ZNF genes & repeats	K562	blood
33	chr18:63600-63800	Active TSS	NH-A	brain
34	chr18:63600-64000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr18:63600-64000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:63600-64000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:63800-64000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
38	chr18:65200-66000	Enhancers	HepG2	liver
39	chr18:66200-66400	Bivalent Enhancer	Left Ventricle	heart
40	chr18:67200-84400	Weak transcription	Right Atrium	heart
41	chr18:72400-72600	Enhancers	HepG2	liver
42	chr18:72600-73000	Flanking Active TSS	HepG2	liver
43	chr18:72800-73000	Enhancers	Placenta	Placenta
44	chr18:72800-73600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr18:73000-73400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr18:73000-73400	Flanking Active TSS	Placenta	Placenta
47	chr18:73000-73400	Bivalent/Poised TSS	K562	blood
48	chr18:73000-73800	Active TSS	HepG2	liver
49	chr18:73200-73800	Active TSS	Hela-S3	cervix
50	chr18:73200-73800	Active TSS	Osteobl	bone

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