Variant report

Variant	esv3442459
Chromosome Location	chr18:43912979-43915827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:732)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr18:43915397-43915847	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr18:43915419-43915953	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr18:43914321-43914352	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr18:43915493-43916016	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:43912950-43914058	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr18:43913571-43913771	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:43913455-43913716	HepG2	liver:	n/a	n/a
8	BRCA1	chr18:43915162-43916347	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr18:43914350-43914357	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr18:43914858-43915184	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr18:43915438-43916123	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr18:43913479-43914028	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr18:43915408-43916093	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr18:43915183-43915600	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr18:43913251-43914211	Hela-S3	cervix:	n/a	chr18:43913992-43913999 chr18:43914023-43914030
16	CHD2	chr18:43914415-43916091	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr18:43915321-43915921	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr18:43914886-43916057	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr18:43913083-43913130	MCF-7	breast:	n/a	n/a
20	CTCF	chr18:43913744-43913746	MCF-7	breast:	n/a	n/a
21	CTCF	chr18:43913695-43913743	MCF-7	breast:	n/a	n/a
22	CTCF	chr18:43913660-43913810	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr18:43913644-43913730	MCF-7	breast:	n/a	n/a
24	CTCF	chr18:43913638-43913757	NHEK	skin:	n/a	n/a
25	CTCF	chr18:43913707-43913711	A549	lung:	n/a	n/a
26	CTCF	chr18:43913500-43913650	SAEC	small airway:	n/a	n/a
27	CTCF	chr18:43913686-43913691	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr18:43913540-43913690	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr18:43913640-43913790	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr18:43913320-43913470	GM12866	blood:	n/a	n/a
31	CTCF	chr18:43913000-43913150	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr18:43913064-43913123	MCF-7	breast:	n/a	n/a
33	CTCF	chr18:43913672-43913681	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr18:43913720-43913870	SAEC	small airway:	n/a	n/a
35	CTCF	chr18:43913668-43913747	MCF-7	breast:	n/a	n/a
36	E2F1	chr18:43913480-43914374	Hela-S3	cervix:	n/a	chr18:43913835-43913846 chr18:43913992-43913999 chr18:43913861-43913870 chr18:43913760-43913774 chr18:43913987-43914001 chr18:43914023-43914030
37	E2F4	chr18:43914902-43915234	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr18:43915751-43916017	MCF10A-Er-Src	breast:	n/a	n/a
39	ELK1	chr18:43913599-43914036	Hela-S3	cervix:	n/a	n/a
40	EP300	chr18:43914517-43919120	SK-N-SH	brain:	n/a	chr18:43915363-43915377 chr18:43915426-43915440 chr18:43917265-43917274 chr18:43915830-43915844 chr18:43917627-43917641 chr18:43916015-43916028
41	GABPA	chr18:43913389-43913704	H1-hESC	embryonic stem cell:	n/a	n/a
42	GTF2F1	chr18:43913117-43914067	Hela-S3	cervix:	n/a	n/a
43	GTF2F1	chr18:43914699-43916036	Hela-S3	cervix:	n/a	n/a
44	GTF2F1	chr18:43915600-43915963	H1-hESC	embryonic stem cell:	n/a	n/a
45	GTF2F1	chr18:43913448-43913652	H1-hESC	embryonic stem cell:	n/a	n/a
46	HA-E2F1	chr18:43912907-43914083	MCF-7	breast:	n/a	chr18:43913835-43913846 chr18:43913992-43913999 chr18:43913861-43913870 chr18:43913760-43913774 chr18:43913987-43914001 chr18:43914023-43914030
47	HA-E2F1	chr18:43913510-43914412	Hela-S3	cervix:	n/a	chr18:43913835-43913846 chr18:43913992-43913999 chr18:43913861-43913870 chr18:43913760-43913774 chr18:43913987-43914001 chr18:43914023-43914030
48	JUND	chr18:43915525-43915708	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr18:43915405-43915825	H1-hESC	embryonic stem cell:	n/a	n/a
50	KAP1	chr18:43912996-43913731	HEK293	kidney:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:43913719-43913769	HCM	heart:	n/a
2	chr18:43913565-43913615	GM19239	blood:	n/a
3	chr18:43913719-43913769	Caco-2	colon:	n/a
4	chr18:43914047-43914097	AoSMC	blood vessel:	n/a
5	chr18:43912991-43913041	RPTEC	kidney:	n/a
6	chr18:43913719-43913769	SK-N-SH	brain:	n/a
7	chr18:43913699-43913749	ovcar-3	ovarian:	n/a
8	chr18:43914047-43914097	U87	brain:	n/a
9	chr18:43913147-43913197	HAEpiC	amniotic membrane:	n/a
10	chr18:43914047-43914097	AG04449	skin:	fetal
11	chr18:43913755-43913805	ovcar-3	ovarian:	n/a
12	chr18:43914226-43914276	AG10803	skin:	n/a
13	chr18:43913346-43913396	SAEC	small airway:	n/a
14	chr18:43913147-43913197	PrEC	prostate:	n/a
15	chr18:43914047-43914097	HIPEpiC	eye:	n/a
16	chr18:43913699-43913749	T-47D	breast:	n/a
17	chr18:43913346-43913396	HL-60	blood:	n/a
18	chr18:43913755-43913805	HAEpiC	amniotic membrane:	n/a
19	chr18:43914264-43914314	AG09319	gingival:	n/a
20	chr18:43913649-43913699	HepG2	liver:	n/a
21	chr18:43913755-43913805	SKMC	muscle:	n/a
22	chr18:43914226-43914276	Jurkat	blood:	n/a
23	chr18:43913755-43913805	SK-N-SH_RA	brain:	n/a
24	chr18:43913565-43913615	RPTEC	kidney:	n/a
25	chr18:43913649-43913699	NT2-D1	testis:	n/a
26	chr18:43914226-43914276	NH-A	brain:	n/a
27	chr18:43914264-43914314	HRPEpiC	eye:	n/a
28	chr18:43912991-43913041	HIPEpiC	eye:	n/a
29	chr18:43913147-43913197	U87	brain:	n/a
30	chr18:43913147-43913197	HEK293	kidney:	embryo
31	chr18:43913719-43913769	GM12892	blood:	n/a
32	chr18:43915662-43915712	HNPCEpiC	eye:	n/a
33	chr18:43913649-43913699	AG09319	gingival:	n/a
34	chr18:43913719-43913769	HCF	heart:	n/a
35	chr18:43912991-43913041	H1-hESC	embryonic stem cell:	embryo
36	chr18:43914264-43914314	MCF10A-Er-Src	breast:	n/a
37	chr18:43914264-43914314	HEEpiC	esophagus:	n/a
38	chr18:43913649-43913699	HCF	heart:	n/a
39	chr18:43913565-43913615	GM06990	blood:	n/a
40	chr18:43913346-43913396	T-47D	breast:	n/a
41	chr18:43914264-43914314	MCF-7	breast:	n/a
42	chr18:43913649-43913699	Hela-S3	cervix:	n/a
43	chr18:43913346-43913396	ProgFib	skin:	n/a
44	chr18:43914264-43914314	HRCEpiC	kidney:	n/a
45	chr18:43913719-43913769	MCF10A-Er-Src	breast:	n/a
46	chr18:43914264-43914314	AG04449	skin:	fetal
47	chr18:43913565-43913615	HCPEpiC	choroid plexus:	n/a
48	chr18:43913699-43913749	HCPEpiC	choroid plexus:	n/a
49	chr18:43914226-43914276	AG04449	skin:	fetal
50	chr18:43913719-43913769	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43912035..43913739-chr18:43924023..43926965,2	MCF-7	breast:
2	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF165-1	chr18:43914187-43914298	NR_046357
2	lnc-LOXHD1-1	chr18:43914928-43915292	ENSG00000248078
3	lnc-RNF165-1	chr18:43914206-43914298	NONHSAT059132
4	lnc-RNF165-1	chr18:43913931-43914088	NONHSAT059132

No data

Variant related genes	Relation type
RNF165	TF binding region
RNF165	CpG island
ENSG00000152242	chromatin interactions
RAB7L1	miRNA target sites

Extended variants
information (count: 95 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539041515	chr18:43912991-43912992	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs368489272	chr18:43913003-43913004	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs556017998	chr18:43913064-43913065	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547850283	chr18:43913087-43913088	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566074845	chr18:43913098-43913099	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567537932	chr18:43913105-43913106	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs4890643	chr18:43913125-43913126	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541738549	chr18:43913196-43913197	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs187258327	chr18:43913238-43913239	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576175677	chr18:43913247-43913248	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537225053	chr18:43913255-43913256	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558234262	chr18:43913256-43913257	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576489732	chr18:43913286-43913287	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148138182	chr18:43913293-43913294	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141972308	chr18:43913336-43913337	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572154548	chr18:43913437-43913438	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs117993275	chr18:43913525-43913526	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574077922	chr18:43913552-43913553	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12969932	chr18:43913553-43913554	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190557161	chr18:43913567-43913568	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541505213	chr18:43913596-43913597	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561598601	chr18:43913611-43913612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150246711	chr18:43913638-43913639	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550306494	chr18:43913643-43913644	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs367862482	chr18:43913644-43913645	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565466042	chr18:43913652-43913653	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182736391	chr18:43913772-43913773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112132213	chr18:43913786-43913787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547888796	chr18:43913819-43913820	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2364833	chr18:43913838-43913839	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs114168352	chr18:43913859-43913860	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536616583	chr18:43913871-43913872	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548212030	chr18:43913940-43913941	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs185475472	chr18:43913946-43913947	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs373935385	chr18:43914207-43914208	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs79121450	chr18:43914264-43914265	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs137929179	chr18:43914276-43914277	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs149521241	chr18:43914285-43914286	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs536863188	chr18:43914359-43914360	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558371439	chr18:43914393-43914394	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570311519	chr18:43914413-43914414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs8084936	chr18:43914438-43914439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552614350	chr18:43914524-43914525	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574371455	chr18:43914569-43914570	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563686622	chr18:43914593-43914594	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190083220	chr18:43914604-43914605	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570794987	chr18:43914634-43914635	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375785286	chr18:43914635-43914636	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534916537	chr18:43914660-43914661	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370250841	chr18:43914669-43914670	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912200-43913200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:43912400-43913000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:43912400-43913000	Enhancers	Fetal Brain Male	brain
4	chr18:43912400-43913000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr18:43912400-43913200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:43912400-43913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43912400-43913400	Enhancers	Right Ventricle	heart
8	chr18:43912600-43913000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr18:43912600-43913200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr18:43912600-43913200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr18:43912600-43913200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:43912600-43913400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr18:43912600-43913800	Flanking Active TSS	Liver	Liver
14	chr18:43912800-43913000	Enhancers	Brain Anterior Caudate	brain
15	chr18:43912800-43913000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr18:43912800-43913000	Enhancers	Brain Substantia Nigra	brain
17	chr18:43912800-43913000	Enhancers	Esophagus	oesophagus
18	chr18:43912800-43913000	Flanking Active TSS	Fetal Brain Female	brain
19	chr18:43912800-43913000	Enhancers	Fetal Heart	heart
20	chr18:43912800-43913200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr18:43912800-43913200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:43912800-43913200	Bivalent Enhancer	Fetal Lung	lung
23	chr18:43912800-43913200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr18:43912800-43913200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr18:43912800-43913400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:43912800-43913400	Enhancers	Left Ventricle	heart
27	chr18:43912800-43913400	Enhancers	Pancreas	Pancrea
28	chr18:43912800-43913400	Enhancers	Right Atrium	heart
29	chr18:43912800-43913600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:43912800-43913600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr18:43912800-43913600	Flanking Active TSS	Hela-S3	cervix
32	chr18:43912800-43913800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr18:43912800-43913800	Flanking Active TSS	Dnd41	blood
34	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
36	chr18:43913000-43913200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:43913000-43913200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:43913000-43913200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr18:43913000-43913200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr18:43913000-43913200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr18:43913000-43913200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:43913000-43913200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:43913000-43913200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr18:43913000-43913200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:43913000-43913200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:43913000-43913200	Enhancers	Adipose Nuclei	Adipose
47	chr18:43913000-43913200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr18:43913000-43913200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr18:43913000-43913200	Enhancers	Colon Smooth Muscle	Colon
50	chr18:43913000-43913200	Flanking Active TSS	Esophagus	oesophagus

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