Variant report

Variant	esv3345228
Chromosome Location	chr18:12307452-12309350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:658)
CpG islands
(count:368)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr18:12307314-12307921	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr18:12308665-12309007	K562	blood:	n/a	n/a
5	BACH1	chr18:12308723-12309057	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr18:12308678-12308952	GM12878	blood:	n/a	chr18:12308779-12308790
7	BATF	chr18:12308593-12308983	GM12878	blood:	n/a	chr18:12308779-12308790
8	BCL11A	chr18:12308627-12308890	GM12878	blood:	n/a	chr18:12308808-12308817 chr18:12308802-12308815
9	BHLHE40	chr18:12308214-12308412	K562	blood:	n/a	n/a
10	BHLHE40	chr18:12307140-12307571	GM12878	blood:	n/a	chr18:12307319-12307340 chr18:12307323-12307336
11	BHLHE40	chr18:12307999-12308082	GM12878	blood:	n/a	chr18:12308033-12308049
12	BHLHE40	chr18:12308828-12308887	GM12878	blood:	n/a	n/a
13	BHLHE40	chr18:12308643-12309027	K562	blood:	n/a	n/a
14	BRCA1	chr18:12308587-12309050	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr18:12308630-12309042	K562	blood:	n/a	n/a
16	CBX3	chr18:12308571-12309030	K562	blood:	n/a	n/a
17	CCNT2	chr18:12307860-12309004	K562	blood:	n/a	chr18:12308540-12308549
18	CEBPB	chr18:12308703-12309166	K562	blood:	n/a	chr18:12309023-12309034
19	CEBPB	chr18:12308860-12309194	HepG2	liver:	n/a	chr18:12309023-12309034
20	CEBPB	chr18:12308307-12309207	Hela-S3	cervix:	n/a	chr18:12309023-12309034
21	CEBPB	chr18:12308712-12309205	K562	blood:	n/a	chr18:12309023-12309034
22	CEBPB	chr18:12308738-12309208	A549	lung:	n/a	chr18:12309023-12309034
23	CEBPB	chr18:12308861-12309127	A549	lung:	n/a	chr18:12309023-12309034
24	CEBPB	chr18:12308845-12309204	H1-hESC	embryonic stem cell:	n/a	chr18:12309023-12309034
25	CEBPB	chr18:12308640-12309200	IMR90	lung:	n/a	chr18:12309023-12309034
26	CEBPB	chr18:12307943-12308010	IMR90	lung:	n/a	n/a
27	CEBPB	chr18:12308802-12309180	MCF-7	breast:	n/a	chr18:12309023-12309034
28	CEBPB	chr18:12308832-12309162	A549	lung:	n/a	chr18:12309023-12309034
29	CEBPB	chr18:12308812-12309204	ECC-1	luminal epithelium:	n/a	chr18:12309023-12309034
30	CEBPD	chr18:12308064-12308451	K562	blood:	n/a	n/a
31	CEBPD	chr18:12308024-12308550	K562	blood:	n/a	n/a
32	CHD1	chr18:12308572-12309021	GM12878	blood:	n/a	n/a
33	CHD1	chr18:12306712-12310268	IMR90	lung:	n/a	chr18:12307601-12307611
34	CHD1	chr18:12307402-12307602	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr18:12308406-12308494	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr18:12308242-12308990	K562	blood:	n/a	n/a
37	CHD2	chr18:12307940-12308051	GM12878	blood:	n/a	n/a
38	CHD2	chr18:12307916-12309052	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr18:12308660-12308843	GM12878	blood:	n/a	n/a
40	CHD2	chr18:12308717-12308801	HepG2	liver:	n/a	n/a
41	CREB1	chr18:12308080-12308976	HepG2	liver:	n/a	n/a
42	CREB1	chr18:12307857-12308862	A549	lung:	n/a	n/a
43	CTBP2	chr18:12308258-12309127	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr18:12306327-12308033	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr18:12307540-12307690	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr18:12307440-12307590	GM12865	blood:	n/a	n/a
47	CTCF	chr18:12307960-12308110	HCPEpiC	choroid plexus:	n/a	chr18:12307978-12307991
48	CTCF	chr18:12307900-12308050	AG04449	skin:	n/a	chr18:12307978-12307991
49	CTCF	chr18:12308300-12308309	GM12892	blood:	n/a	n/a
50	CTCF	chr18:12307460-12307610	HPF	lung:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12309071-12309121	SKMC	muscle:	n/a
2	chr18:12307630-12307680	AG09309	skin:	n/a
3	chr18:12309071-12309121	SKMC	muscle:	n/a
4	chr18:12307630-12307680	AG09309	skin:	n/a
5	chr18:12307630-12307680	Hepatocyte	liver:	n/a
6	chr18:12309071-12309121	NHBE	bronchial:	n/a
7	chr18:12308339-12308389	AoSMC	blood vessel:	n/a
8	chr18:12307630-12307680	AG04449	skin:	fetal
9	chr18:12308812-12308862	GM19239	blood:	n/a
10	chr18:12307649-12307699	NT2-D1	testis:	n/a
11	chr18:12307649-12307699	GM12892	blood:	n/a
12	chr18:12307630-12307680	HCPEpiC	choroid plexus:	n/a
13	chr18:12308377-12308427	Hepatocyte	liver:	n/a
14	chr18:12309071-12309121	MCF-7	breast:	n/a
15	chr18:12308339-12308389	GM06990	blood:	n/a
16	chr18:12308339-12308389	Jurkat	blood:	n/a
17	chr18:12309071-12309121	GM19239	blood:	n/a
18	chr18:12308339-12308389	Caco-2	colon:	n/a
19	chr18:12308377-12308427	NT2-D1	testis:	n/a
20	chr18:12308339-12308389	BJ	skin:	n/a
21	chr18:12309071-12309121	PrEC	prostate:	n/a
22	chr18:12309071-12309121	SAEC	small airway:	n/a
23	chr18:12308377-12308427	Hela-S3	cervix:	n/a
24	chr18:12309071-12309121	AG04449	skin:	fetal
25	chr18:12307630-12307680	HEK293	kidney:	embryo
26	chr18:12308812-12308862	AoSMC	blood vessel:	n/a
27	chr18:12307630-12307680	HL-60	blood:	n/a
28	chr18:12307649-12307699	ProgFib	skin:	n/a
29	chr18:12308812-12308862	Caco-2	colon:	n/a
30	chr18:12307649-12307699	HNPCEpiC	eye:	n/a
31	chr18:12308339-12308389	HEEpiC	esophagus:	n/a
32	chr18:12307630-12307680	U87	brain:	n/a
33	chr18:12308339-12308389	AG04449	skin:	fetal
34	chr18:12308377-12308427	NHBE	bronchial:	n/a
35	chr18:12307649-12307699	HRE	kidney:	n/a
36	chr18:12308339-12308389	IMR90	lung:	fetal
37	chr18:12307630-12307680	SK-N-SH	brain:	n/a
38	chr18:12307630-12307680	H1-hESC	embryonic stem cell:	embryo
39	chr18:12307630-12307680	GM12891	blood:	n/a
40	chr18:12308377-12308427	GM19239	blood:	n/a
41	chr18:12308339-12308389	AG10803	skin:	n/a
42	chr18:12307649-12307699	HMEC	breast:	n/a
43	chr18:12307630-12307680	AG10803	skin:	n/a
44	chr18:12308812-12308862	SK-N-SH_RA	brain:	n/a
45	chr18:12307630-12307680	AoSMC	blood vessel:	n/a
46	chr18:12309071-12309121	AG09309	skin:	n/a
47	chr18:12308812-12308862	HUVEC	blood vessel:	n/a
48	chr18:12307649-12307699	Hepatocyte	liver:	n/a
49	chr18:12308812-12308862	HMEC	breast:	n/a
50	chr18:12308812-12308862	AG09319	gingival:	n/a

(count:19 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 83 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	rs113587553	chr18:12308428-12308429	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	17 gene(s)	Overlapped CNVs	n/a
40	rs558918291	chr18:12308464-12308465	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	17 gene(s)	Overlapped CNVs	n/a
41	rs557748664	chr18:12308476-12308477	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	17 gene(s)	Overlapped CNVs	n/a
42	rs8087496	chr18:12308504-12308505	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	17 gene(s)	Overlapped CNVs	n/a
43	rs190154312	chr18:12308525-12308526	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	17 gene(s)	Overlapped CNVs	n/a
44	rs561815630	chr18:12308540-12308541	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	17 gene(s)	Overlapped CNVs	n/a
45	rs141383863	chr18:12308564-12308565	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	17 gene(s)	Overlapped CNVs	n/a
46	rs565194718	chr18:12308570-12308571	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	17 gene(s)	Overlapped CNVs	n/a
47	rs368081665	chr18:12308571-12308572	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	17 gene(s)	Overlapped CNVs	n/a
48	rs77669770	chr18:12308608-12308609	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	mRNA abundance
49	rs530862270	chr18:12308622-12308623	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs545883222	chr18:12308627-12308628	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region 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:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12305600-12307800	Weak transcription	Pancreas	Pancrea
2	chr18:12306000-12307600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr18:12306400-12307600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12306400-12307600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr18:12306400-12308000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr18:12306400-12309400	Active TSS	HSMMtube	muscle
7	chr18:12306600-12307600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:12306600-12307600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr18:12306600-12307600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
10	chr18:12306600-12307600	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr18:12306600-12307600	Flanking Active TSS	HMEC	breast
12	chr18:12306600-12307600	Flanking Active TSS	HUVEC	blood vessel
13	chr18:12306600-12309600	Active TSS	Right Atrium	heart
14	chr18:12306800-12307600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:12306800-12307600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
16	chr18:12306800-12307600	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr18:12306800-12307600	Enhancers	K562	blood
18	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
19	chr18:12306800-12307800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr18:12306800-12308000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr18:12306800-12308600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:12307000-12307600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr18:12307000-12307600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr18:12307000-12307600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr18:12307000-12307600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:12307000-12307600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr18:12307000-12307600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr18:12307000-12307600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr18:12307000-12307600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
33	chr18:12307000-12307800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
34	chr18:12307000-12307800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
35	chr18:12307000-12307800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr18:12307000-12307800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr18:12307000-12307800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr18:12307000-12308000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr18:12307000-12308000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr18:12307000-12308800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:12307000-12309000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:12307000-12309400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:12307000-12309400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr18:12307000-12309400	Active TSS	Ovary	ovary
45	chr18:12307000-12309400	Active TSS	HSMM	muscle
46	chr18:12307000-12309400	Active TSS	NHDF-Ad	bronchial
47	chr18:12307000-12309400	Active TSS	NHLF	lung
48	chr18:12307000-12309600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr18:12307000-12309600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:12307000-12309600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links