Variant report

Variant	esv3316266
Chromosome Location	chr18:12307177-12309725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:427)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr18:12308511-12308958	K562	blood:	n/a	chr18:12308809-12308818
2	ATF3	chr18:12308652-12308918	K562	blood:	n/a	chr18:12308809-12308818
3	BACH1	chr18:12308723-12309057	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr18:12307314-12307921	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:12308665-12309007	K562	blood:	n/a	n/a
6	BATF	chr18:12309568-12310047	GM12878	blood:	n/a	n/a
7	BATF	chr18:12308678-12308952	GM12878	blood:	n/a	chr18:12308779-12308790
8	BATF	chr18:12309577-12310044	GM12878	blood:	n/a	n/a
9	BATF	chr18:12308593-12308983	GM12878	blood:	n/a	chr18:12308779-12308790
10	BCL11A	chr18:12308627-12308890	GM12878	blood:	n/a	chr18:12308808-12308817 chr18:12308802-12308815
11	BCL3	chr18:12309697-12309959	GM12878	blood:	n/a	n/a
12	BHLHE40	chr18:12308643-12309027	K562	blood:	n/a	n/a
13	BHLHE40	chr18:12308828-12308887	GM12878	blood:	n/a	n/a
14	BHLHE40	chr18:12307999-12308082	GM12878	blood:	n/a	chr18:12308033-12308049
15	BHLHE40	chr18:12308214-12308412	K562	blood:	n/a	n/a
16	BHLHE40	chr18:12307140-12307571	GM12878	blood:	n/a	chr18:12307319-12307340 chr18:12307323-12307336
17	BRCA1	chr18:12308587-12309050	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr18:12309639-12309702	GM12878	blood:	n/a	n/a
19	CBX3	chr18:12308630-12309042	K562	blood:	n/a	n/a
20	CBX3	chr18:12308571-12309030	K562	blood:	n/a	n/a
21	CCNT2	chr18:12307860-12309004	K562	blood:	n/a	chr18:12308540-12308549
22	CEBPB	chr18:12308861-12309127	A549	lung:	n/a	chr18:12309023-12309034
23	CEBPB	chr18:12308802-12309180	MCF-7	breast:	n/a	chr18:12309023-12309034
24	CEBPB	chr18:12308712-12309205	K562	blood:	n/a	chr18:12309023-12309034
25	CEBPB	chr18:12308640-12309200	IMR90	lung:	n/a	chr18:12309023-12309034
26	CEBPB	chr18:12308738-12309208	A549	lung:	n/a	chr18:12309023-12309034
27	CEBPB	chr18:12308307-12309207	Hela-S3	cervix:	n/a	chr18:12309023-12309034
28	CEBPB	chr18:12308812-12309204	ECC-1	luminal epithelium:	n/a	chr18:12309023-12309034
29	CEBPB	chr18:12308703-12309166	K562	blood:	n/a	chr18:12309023-12309034
30	CEBPB	chr18:12307943-12308010	IMR90	lung:	n/a	n/a
31	CEBPB	chr18:12308845-12309204	H1-hESC	embryonic stem cell:	n/a	chr18:12309023-12309034
32	CEBPB	chr18:12308860-12309194	HepG2	liver:	n/a	chr18:12309023-12309034
33	CEBPB	chr18:12308832-12309162	A549	lung:	n/a	chr18:12309023-12309034
34	CEBPD	chr18:12308064-12308451	K562	blood:	n/a	n/a
35	CEBPD	chr18:12308024-12308550	K562	blood:	n/a	n/a
36	CHD1	chr18:12308406-12308494	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr18:12308572-12309021	GM12878	blood:	n/a	n/a
38	CHD1	chr18:12306712-12310268	IMR90	lung:	n/a	chr18:12307601-12307611
39	CHD1	chr18:12307402-12307602	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr18:12307940-12308051	GM12878	blood:	n/a	n/a
41	CHD2	chr18:12309509-12309944	GM12878	blood:	n/a	n/a
42	CHD2	chr18:12308660-12308843	GM12878	blood:	n/a	n/a
43	CHD2	chr18:12308717-12308801	HepG2	liver:	n/a	n/a
44	CHD2	chr18:12308242-12308990	K562	blood:	n/a	n/a
45	CHD2	chr18:12307916-12309052	Hela-S3	cervix:	n/a	n/a
46	CREB1	chr18:12307857-12308862	A549	lung:	n/a	n/a
47	CREB1	chr18:12308080-12308976	HepG2	liver:	n/a	n/a
48	CTBP2	chr18:12308258-12309127	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr18:12306327-12308033	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr18:12307536-12307656	GM10248	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12307329-12307379	A549	lung:	n/a
2	chr18:12308377-12308427	PFSK-1	brain:	n/a
3	chr18:12307649-12307699	MCF-7	breast:	n/a
4	chr18:12308377-12308427	HCM	heart:	n/a
5	chr18:12309071-12309121	ProgFib	skin:	n/a
6	chr18:12308812-12308862	GM19239	blood:	n/a
7	chr18:12307649-12307699	ProgFib	skin:	n/a
8	chr18:12308377-12308427	HCF	heart:	n/a
9	chr18:12309071-12309121	IMR90	lung:	fetal
10	chr18:12308377-12308427	BE2_C	brain:	n/a
11	chr18:12308339-12308389	T-47D	breast:	n/a
12	chr18:12307329-12307379	BJ	skin:	n/a
13	chr18:12308812-12308862	HL-60	blood:	n/a
14	chr18:12308339-12308389	MCF-7	breast:	n/a
15	chr18:12309071-12309121	MCF-7	breast:	n/a
16	chr18:12307649-12307699	AG04450	lung:	fetal
17	chr18:12308377-12308427	HRCEpiC	kidney:	n/a
18	chr18:12309071-12309121	HAEpiC	amniotic membrane:	n/a
19	chr18:12308339-12308389	ECC-1	luminal epithelium:	n/a
20	chr18:12309071-12309121	AoSMC	blood vessel:	n/a
21	chr18:12307630-12307680	CMK	blood:	n/a
22	chr18:12307329-12307379	SK-N-SH_RA	brain:	n/a
23	chr18:12307329-12307379	Hepatocyte	liver:	n/a
24	chr18:12307630-12307680	BE2_C	brain:	n/a
25	chr18:12308377-12308427	HAEpiC	amniotic membrane:	n/a
26	chr18:12307329-12307379	HIPEpiC	eye:	n/a
27	chr18:12308377-12308427	AG09319	gingival:	n/a
28	chr18:12307329-12307379	HNPCEpiC	eye:	n/a
29	chr18:12309071-12309121	SK-N-MC	brain:	n/a
30	chr18:12309071-12309121	CMK	blood:	n/a
31	chr18:12307649-12307699	SK-N-SH	brain:	n/a
32	chr18:12308377-12308427	ProgFib	skin:	n/a
33	chr18:12307649-12307699	GM06990	blood:	n/a
34	chr18:12308339-12308389	LNCaP	prostate:	n/a
35	chr18:12308812-12308862	NB4	blood:	n/a
36	chr18:12308377-12308427	U87	brain:	n/a
37	chr18:12308339-12308389	SAEC	small airway:	n/a
38	chr18:12307630-12307680	LNCaP	prostate:	n/a
39	chr18:12308812-12308862	Hela-S3	cervix:	n/a
40	chr18:12307630-12307680	AG09309	skin:	n/a
41	chr18:12309071-12309121	Caco-2	colon:	n/a
42	chr18:12308812-12308862	NHBE	bronchial:	n/a
43	chr18:12308339-12308389	ovcar-3	ovarian:	n/a
44	chr18:12308812-12308862	A549	lung:	n/a
45	chr18:12307649-12307699	HepG2	liver:	n/a
46	chr18:12308812-12308862	HepG2	liver:	n/a
47	chr18:12308339-12308389	NHDF-neo	bronchial:	n/a
48	chr18:12309071-12309121	NH-A	brain:	n/a
49	chr18:12307329-12307379	ProgFib	skin:	n/a
50	chr18:12307329-12307379	GM12891	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12305088..12307512-chr18:12313207..12314857,2	MCF-7	breast:
2	chr18:12306558..12308875-chr18:12376128..12379112,4	MCF-7	breast:
3	chr18:12307823..12308792-chr7:152160863..152161673,3	Hela-S3	cervix:
4	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
5	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:
6	chr18:12305251..12310573-chr18:12373540..12378768,12	K562	blood:
7	chr18:12308151..12309049-chr7:100025997..100026635,2	Hela-S3	cervix:
8	chr18:12308177..12308950-chr19:47616370..47617080,2	Hela-S3	cervix:
9	chr18:12308206..12308971-chr2:172016511..172017011,2	Hela-S3	cervix:
10	chr18:12305136..12307294-chr18:12373188..12375992,2	K562	blood:
11	chr18:12307737..12309568-chr20:45947449..45950208,2	MCF-7	breast:
12	chr18:12308021..12308924-chr6:42713872..42714815,2	Hela-S3	cervix:
13	chr16:14726227..14727008-chr18:12308782..12309306,2	Hela-S3	cervix:
14	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
15	chr18:12307869..12309956-chr18:12375801..12377728,3	MCF-7	breast:
16	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:
17	chr18:12306891..12312604-chr18:12376208..12378768,5	K562	blood:
18	chr18:12307367..12309512-chr18:12310463..12312362,3	MCF-7	breast:
19	chr18:12280564..12282806-chr18:12308373..12310089,2	MCF-7	breast:
20	chr18:12305189..12307531-chr18:12348513..12350554,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-170P	TF binding region
TUBB6	TF binding region
RNU6-170P	CpG island
TUBB6	CpG island
ENSG00000103429	chromatin interactions
ENSG00000261455	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000142230	chromatin interactions
ENSG00000140694	chromatin interactions
ENSG00000130749	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000198586	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000176014	chromatin interactions
ENSG00000199702	chromatin interactions
ENSG00000215527	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149179311	chr18:12307194-12307195	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs76719119	chr18:12307261-12307262	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs111373418	chr18:12307263-12307264	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs546786796	chr18:12307266-12307267	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs113600469	chr18:12307275-12307276	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs370191583	chr18:12307276-12307277	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs559891610	chr18:12307344-12307345	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs16977073	chr18:12307373-12307374	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs373883762	chr18:12307385-12307386	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs538905566	chr18:12307391-12307392	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs75820387	chr18:12307424-12307425	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs537029882	chr18:12307443-12307444	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs571481298	chr18:12307530-12307531	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs552487163	chr18:12307556-12307557	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs570776520	chr18:12307560-12307561	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs375976925	chr18:12307597-12307598	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs182356579	chr18:12307707-12307708	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs372084588	chr18:12307708-12307709	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs368955089	chr18:12307736-12307737	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs574925122	chr18:12307738-12307739	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs535582228	chr18:12307766-12307767	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs143509826	chr18:12307781-12307782	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs575226778	chr18:12307793-12307794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs545445558	chr18:12307805-12307806	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs11665134	chr18:12307830-12307831	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs137976817	chr18:12307871-12307872	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs12968596	chr18:12307901-12307902	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs12968604	chr18:12307924-12307925	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs187024507	chr18:12307934-12307935	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs62098961	chr18:12307970-12307971	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs143511390	chr18:12307984-12307985	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs373702245	chr18:12308015-12308016	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs376706381	chr18:12308042-12308043	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs117110301	chr18:12308075-12308076	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
35	rs548692592	chr18:12308187-12308188	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs563617001	chr18:12308219-12308220	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs530951982	chr18:12308237-12308238	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs8087840	chr18:12308243-12308244	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs8086821	chr18:12308245-12308246	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs368192709	chr18:12308249-12308250	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs192717175	chr18:12308252-12308253	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs372336314	chr18:12308265-12308266	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs11548177	chr18:12308273-12308274	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs535654999	chr18:12308284-12308285	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs202128106	chr18:12308316-12308317	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs200294113	chr18:12308317-12308318	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs11553522	chr18:12308345-12308346	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs8086993	chr18:12308377-12308378	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs575218041	chr18:12308418-12308419	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs539441197	chr18:12308421-12308422	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12305200-12307200	Enhancers	Fetal Heart	heart
2	chr18:12305200-12307200	Enhancers	Right Ventricle	heart
3	chr18:12305600-12307800	Weak transcription	Pancreas	Pancrea
4	chr18:12306000-12307200	Enhancers	Placenta	Placenta
5	chr18:12306000-12307600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr18:12306200-12307200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:12306200-12307200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12306200-12307200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:12306200-12307200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr18:12306200-12307400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr18:12306200-12307400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr18:12306200-12307400	Flanking Active TSS	NH-A	brain
13	chr18:12306400-12307200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr18:12306400-12307200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:12306400-12307200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:12306400-12307200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr18:12306400-12307600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12306400-12307600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr18:12306400-12308000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr18:12306400-12309400	Active TSS	HSMMtube	muscle
21	chr18:12306600-12307200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:12306600-12307200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:12306600-12307200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:12306600-12307200	Enhancers	Aorta	Aorta
25	chr18:12306600-12307200	Bivalent Enhancer	Brain Substantia Nigra	brain
26	chr18:12306600-12307600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:12306600-12307600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr18:12306600-12307600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr18:12306600-12307600	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr18:12306600-12307600	Flanking Active TSS	HMEC	breast
31	chr18:12306600-12307600	Flanking Active TSS	HUVEC	blood vessel
32	chr18:12306600-12309600	Active TSS	Right Atrium	heart
33	chr18:12306800-12307200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:12306800-12307200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr18:12306800-12307200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:12306800-12307200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr18:12306800-12307200	Active TSS	Brain Anterior Caudate	brain
38	chr18:12306800-12307200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr18:12306800-12307200	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr18:12306800-12307200	Enhancers	Left Ventricle	heart
41	chr18:12306800-12307400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr18:12306800-12307400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr18:12306800-12307400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:12306800-12307400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:12306800-12307400	Enhancers	Spleen	Spleen
46	chr18:12306800-12307600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:12306800-12307600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
48	chr18:12306800-12307600	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr18:12306800-12307600	Enhancers	K562	blood
50	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links