Variant report

Variant	esv3424423
Chromosome Location	chr18:12656602-12659250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:457)
CpG islands
(count:611)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12658846-12659073	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:12656801-12656872	HepG2	liver:	n/a	n/a
3	BACH1	chr18:12656832-12657146	K562	blood:	n/a	n/a
4	BACH1	chr18:12658233-12658814	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:12656956-12658031	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr18:12658128-12658361	K562	blood:	n/a	n/a
7	BHLHE40	chr18:12658112-12658339	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:12656971-12657245	K562	blood:	n/a	chr18:12657213-12657229
9	BHLHE40	chr18:12658019-12658356	HepG2	liver:	n/a	n/a
10	BHLHE40	chr18:12657711-12657720	HepG2	liver:	n/a	n/a
11	BRCA1	chr18:12656608-12656967	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr18:12657677-12657702	HepG2	liver:	n/a	n/a
13	CBX3	chr18:12656955-12657361	K562	blood:	n/a	n/a
14	CCNT2	chr18:12658646-12658735	K562	blood:	n/a	n/a
15	CCNT2	chr18:12656952-12658330	K562	blood:	n/a	n/a
16	CEBPB	chr18:12658017-12658217	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr18:12656640-12656957	K562	blood:	n/a	n/a
18	CEBPB	chr18:12656641-12657030	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr18:12656689-12656975	IMR90	lung:	n/a	n/a
20	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a
21	CHD2	chr18:12657439-12657480	HepG2	liver:	n/a	n/a
22	CHD2	chr18:12658542-12658645	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr18:12657035-12658381	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr18:12657763-12658498	A549	lung:	n/a	n/a
25	CREB1	chr18:12658035-12658519	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr18:12657351-12657811	K562	blood:	n/a	n/a
27	CREB1	chr18:12657013-12657382	A549	lung:	n/a	n/a
28	CREB1	chr18:12656957-12658467	HepG2	liver:	n/a	n/a
29	CTBP2	chr18:12657860-12658806	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr18:12658640-12658790	HAc	cerebellar:	n/a	n/a
31	CTCF	chr18:12658446-12658448	GM19239	blood:	n/a	n/a
32	CTCF	chr18:12657828-12657947	MCF-7	breast:	n/a	n/a
33	CTCF	chr18:12658060-12658210	GM12866	blood:	n/a	n/a
34	CTCF	chr18:12658040-12658190	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr18:12658280-12658374	Fibrobl	skin:	n/a	n/a
36	CTCF	chr18:12658700-12658850	MCF-7	breast:	n/a	n/a
37	CTCF	chr18:12658160-12658310	AG09319	gingival:	n/a	n/a
38	CTCF	chr18:12657666-12657711	Fibrobl	skin:	n/a	n/a
39	CTCF	chr18:12658100-12658250	AG04450	lung:	n/a	n/a
40	CTCF	chr18:12658180-12658330	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr18:12658160-12658310	GM06990	blood:	n/a	n/a
42	CTCF	chr18:12658660-12658810	HMF	breast:	n/a	n/a
43	CTCF	chr18:12658180-12658330	HFF	foreskin:	n/a	n/a
44	CTCF	chr18:12658680-12658830	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr18:12658216-12658261	MCF-7	breast:	n/a	n/a
46	CTCF	chr18:12657780-12657930	GM12870	blood:	n/a	n/a
47	CTCF	chr18:12657867-12657875	GM12892	blood:	n/a	n/a
48	CTCF	chr18:12658220-12658370	GM06990	blood:	n/a	n/a
49	CTCF	chr18:12658160-12658310	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr18:12658266-12658362	GM19240	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12656910-12656960	GM12878	blood:	n/a
2	chr18:12656910-12656960	GM12878	blood:	n/a
3	chr18:12656824-12656874	HCM	heart:	n/a
4	chr18:12658233-12658283	ECC-1	luminal epithelium:	n/a
5	chr18:12657056-12657106	HMEC	breast:	n/a
6	chr18:12657909-12657959	HRPEpiC	eye:	n/a
7	chr18:12657166-12657216	SAEC	small airway:	n/a
8	chr18:12657056-12657106	HEK293	kidney:	embryo
9	chr18:12657166-12657216	BJ	skin:	n/a
10	chr18:12657909-12657959	NT2-D1	testis:	n/a
11	chr18:12657749-12657799	GM12878	blood:	n/a
12	chr18:12657909-12657959	Jurkat	blood:	n/a
13	chr18:12657749-12657799	Hela-S3	cervix:	n/a
14	chr18:12659100-12659150	HMEC	breast:	n/a
15	chr18:12657909-12657959	RPTEC	kidney:	n/a
16	chr18:12657749-12657799	U87	brain:	n/a
17	chr18:12656824-12656874	ovcar-3	ovarian:	n/a
18	chr18:12658233-12658283	PFSK-1	brain:	n/a
19	chr18:12657909-12657959	HEK293	kidney:	embryo
20	chr18:12658233-12658283	PrEC	prostate:	n/a
21	chr18:12656824-12656874	Jurkat	blood:	n/a
22	chr18:12658644-12658694	K562	blood:	n/a
23	chr18:12657692-12657742	SK-N-MC	brain:	n/a
24	chr18:12658233-12658283	GM19239	blood:	n/a
25	chr18:12659100-12659150	HCF	heart:	n/a
26	chr18:12657749-12657799	GM12892	blood:	n/a
27	chr18:12657749-12657799	BE2_C	brain:	n/a
28	chr18:12656824-12656874	GM12878	blood:	n/a
29	chr18:12657056-12657106	GM12892	blood:	n/a
30	chr18:12657056-12657106	PFSK-1	brain:	n/a
31	chr18:12657692-12657742	MCF10A-Er-Src	breast:	n/a
32	chr18:12657692-12657742	SK-N-SH	brain:	n/a
33	chr18:12657056-12657106	HRCEpiC	kidney:	n/a
34	chr18:12657692-12657742	Hepatocyte	liver:	n/a
35	chr18:12659100-12659150	MCF10A-Er-Src	breast:	n/a
36	chr18:12657749-12657799	HEEpiC	esophagus:	n/a
37	chr18:12658233-12658283	AG09319	gingival:	n/a
38	chr18:12659100-12659150	SKMC	muscle:	n/a
39	chr18:12657909-12657959	GM06990	blood:	n/a
40	chr18:12658644-12658694	NHDF-neo	bronchial:	n/a
41	chr18:12658644-12658694	HPAEpiC	pulmonary alveolar:	n/a
42	chr18:12657166-12657216	HNPCEpiC	eye:	n/a
43	chr18:12656910-12656960	CMK	blood:	n/a
44	chr18:12656824-12656874	K562	blood:	n/a
45	chr18:12656910-12656960	HL-60	blood:	n/a
46	chr18:12657166-12657216	HCT-116	colon:	n/a
47	chr18:12657166-12657216	A549	lung:	n/a
48	chr18:12656824-12656874	SK-N-SH_RA	brain:	n/a
49	chr18:12657692-12657742	NH-A	brain:	n/a
50	chr18:12658233-12658283	HL-60	blood:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12657540..12658417-chr22:46475896..46476854,2	Hela-S3	cervix:
2	chr18:12435991..12438957-chr18:12658317..12660163,2	MCF-7	breast:
3	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:
4	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
5	chr18:12658848..12660471-chr18:12660520..12662160,2	MCF-7	breast:
6	chr18:12375685..12377446-chr18:12655932..12658656,3	MCF-7	breast:
7	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
8	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
9	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
10	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
11	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
12	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:
13	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
14	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
15	chr18:12539903..12541513-chr18:12659241..12661468,2	MCF-7	breast:
16	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
17	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
18	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
19	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
20	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
21	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
22	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215527	TF binding region
PSMG2	TF binding region
SPIRE1	TF binding region
ENSG00000215527	CpG island
PSMG2	CpG island
SPIRE1	CpG island
ENSG00000215527	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000267199	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000176014	chromatin interactions
ENSG00000197182	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000141391	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574399735	chr18:12656701-12656702	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs45598834	chr18:12656770-12656771	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs544575096	chr18:12656833-12656834	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs562872286	chr18:12656865-12656866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs533411386	chr18:12656907-12656908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs551843949	chr18:12656927-12656928	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs537733797	chr18:12656949-12656950	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs560415709	chr18:12657054-12657055	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs45520946	chr18:12657057-12657058	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111560915	chr18:12657066-12657067	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs375798790	chr18:12657094-12657095	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs548920923	chr18:12657191-12657192	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs544337756	chr18:12657221-12657222	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs567183552	chr18:12657229-12657230	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs537753250	chr18:12657251-12657252	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs111822193	chr18:12657291-12657292	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs1105122	chr18:12657320-12657321	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201043053	chr18:12657334-12657335	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs537631460	chr18:12657353-12657354	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs146027871	chr18:12657384-12657385	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs371514996	chr18:12657429-12657430	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs34472716	chr18:12657431-12657432	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs572065195	chr18:12657457-12657458	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs369751804	chr18:12657481-12657482	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs534365939	chr18:12657483-12657484	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs182090603	chr18:12657633-12657634	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs150658464	chr18:12657642-12657643	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs574335743	chr18:12657643-12657644	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs1058321	chr18:12657712-12657713	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs544916918	chr18:12657742-12657743	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs563215443	chr18:12657788-12657789	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs577954522	chr18:12657855-12657856	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs545094996	chr18:12657888-12657889	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs560600230	chr18:12657999-12658000	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs527793785	chr18:12658006-12658007	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs4073592	chr18:12658045-12658046	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs560748120	chr18:12658055-12658056	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs531444697	chr18:12658067-12658068	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs139943173	chr18:12658075-12658076	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
40	rs575232552	chr18:12658108-12658109	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs575078871	chr18:12658123-12658124	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs571238760	chr18:12658189-12658190	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs3902981	chr18:12658191-12658192	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs190716086	chr18:12658205-12658206	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs565726100	chr18:12658252-12658253	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs141693404	chr18:12658262-12658263	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs34739227	chr18:12658269-12658270	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs554749966	chr18:12658309-12658310	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs567849664	chr18:12658339-12658340	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs888266	chr18:12658436-12658437	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12646200-12657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12646200-12657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12646400-12657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:12648000-12656800	Weak transcription	Left Ventricle	heart
5	chr18:12648600-12656800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:12653200-12656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12653200-12656800	Weak transcription	Esophagus	oesophagus
8	chr18:12653200-12657000	Weak transcription	Spleen	Spleen
9	chr18:12653400-12657000	Weak transcription	Pancreas	Pancrea
10	chr18:12653400-12657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:12653800-12656800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:12653800-12656800	Weak transcription	Lung	lung
13	chr18:12653800-12656800	Weak transcription	Ovary	ovary
14	chr18:12653800-12670400	Weak transcription	Dnd41	blood
15	chr18:12654000-12656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:12655400-12656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:12655400-12657200	Active TSS	Fetal Brain Male	brain
18	chr18:12655400-12657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:12655400-12658200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:12655400-12658200	Active TSS	Brain Germinal Matrix	brain
21	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:12655400-12659000	Active TSS	Brain Angular Gyrus	brain
23	chr18:12655400-12659000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr18:12655400-12659600	Active TSS	Fetal Brain Female	brain
25	chr18:12655600-12656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:12655800-12656800	Flanking Active TSS	HUVEC	blood vessel
27	chr18:12655800-12659000	Active TSS	NHLF	lung
28	chr18:12656000-12657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:12656000-12658600	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr18:12656000-12658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:12656000-12658600	Active TSS	HepG2	liver
32	chr18:12656000-12658600	Active TSS	NH-A	brain
33	chr18:12656000-12658600	Active TSS	NHEK	skin
34	chr18:12656000-12658800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:12656000-12659000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:12656000-12659000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:12656000-12659000	Active TSS	HSMM	muscle
38	chr18:12656000-12659200	Active TSS	HSMMtube	muscle
39	chr18:12656200-12656800	Flanking Active TSS	Osteobl	bone
40	chr18:12656200-12658000	Active TSS	K562	blood
41	chr18:12656200-12659400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr18:12656400-12656800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:12656400-12656800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr18:12656400-12656800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr18:12656400-12656800	Flanking Active TSS	Fetal Kidney	kidney
46	chr18:12656400-12657000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:12656400-12657000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr18:12656400-12657000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr18:12656400-12657400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr18:12656400-12658600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links