Variant report

Variant	nsv576811
Chromosome Location	chr18:43913732-43930972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:408)
CpG islands
(count:549)
Chromatin interactive
region (count:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr18:43915419-43915953	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr18:43915397-43915847	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr18:43923955-43924431	GM12878	blood:	n/a	n/a
4	BACH1	chr18:43914321-43914352	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:43912950-43914058	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr18:43918187-43918248	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr18:43915493-43916016	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr18:43923959-43924320	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr18:43924025-43924312	GM12878	blood:	n/a	chr18:43924140-43924150 chr18:43924139-43924150
10	BHLHE40	chr18:43923859-43924179	GM12878	blood:	n/a	n/a
11	BHLHE40	chr18:43923726-43923956	K562	blood:	n/a	chr18:43923739-43923748
12	BHLHE40	chr18:43913571-43913771	GM12878	blood:	n/a	n/a
13	BRCA1	chr18:43915162-43916347	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr18:43914350-43914357	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr18:43916642-43917020	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr18:43913479-43914028	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr18:43914858-43915184	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr18:43915408-43916093	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr18:43915897-43915938	IMR90	lung:	n/a	n/a
20	CEBPB	chr18:43915438-43916123	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr18:43918343-43918352	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr18:43915183-43915600	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr18:43916950-43917034	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr18:43924028-43924226	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr18:43925371-43925386	GM12878	blood:	n/a	n/a
26	CHD2	chr18:43913251-43914211	Hela-S3	cervix:	n/a	chr18:43913992-43913999 chr18:43914023-43914030
27	CHD2	chr18:43923848-43924439	GM12878	blood:	n/a	n/a
28	CHD2	chr18:43915321-43915921	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr18:43914415-43916091	Hela-S3	cervix:	n/a	n/a
30	CTBP2	chr18:43914886-43916057	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr18:43918320-43918470	WERI-Rb-1	eye:	n/a	chr18:43918359-43918372 chr18:43918357-43918375
32	CTCF	chr18:43923860-43924010	GM12868	blood:	n/a	n/a
33	CTCF	chr18:43924074-43924230	H1-hESC	embryonic stem cell:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
34	CTCF	chr18:43913640-43913790	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr18:43924180-43924330	GM06990	blood:	n/a	n/a
36	CTCF	chr18:43924116-43924208	GM12878	blood:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
37	CTCF	chr18:43924120-43924270	GM12872	blood:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
38	CTCF	chr18:43923919-43924005	NHEK	skin:	n/a	n/a
39	CTCF	chr18:43924040-43924190	HMEC	breast:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
40	CTCF	chr18:43924000-43924150	GM12867	blood:	n/a	n/a
41	CTCF	chr18:43924088-43924218	GM12891	blood:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
42	CTCF	chr18:43923940-43924090	GM06990	blood:	n/a	n/a
43	CTCF	chr18:43924060-43924210	GM12869	blood:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
44	CTCF	chr18:43918280-43918430	SK-N-SH_RA	brain:	n/a	chr18:43918359-43918372 chr18:43918357-43918375
45	CTCF	chr18:43929500-43929650	GM12873	blood:	n/a	n/a
46	CTCF	chr18:43924107-43924131	GM19240	blood:	n/a	n/a
47	CTCF	chr18:43923920-43924150	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr18:43924020-43924170	GM12873	blood:	n/a	chr18:43924154-43924162 chr18:43924147-43924160
49	CTCF	chr18:43924248-43924252	GM12892	blood:	n/a	n/a
50	CTCF	chr18:43924073-43924237	GM12892	blood:	n/a	chr18:43924154-43924162 chr18:43924147-43924160

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:43915662-43915712	HCT-116	colon:	n/a
2	chr18:43913699-43913749	HCPEpiC	choroid plexus:	n/a
3	chr18:43915662-43915712	GM19239	blood:	n/a
4	chr18:43914226-43914276	LNCaP	prostate:	n/a
5	chr18:43913699-43913749	SKMC	muscle:	n/a
6	chr18:43915901-43915951	IMR90	lung:	fetal
7	chr18:43914047-43914097	HMEC	breast:	n/a
8	chr18:43914047-43914097	CMK	blood:	n/a
9	chr18:43913755-43913805	PFSK-1	brain:	n/a
10	chr18:43914226-43914276	HEK293	kidney:	embryo
11	chr18:43915901-43915951	HNPCEpiC	eye:	n/a
12	chr18:43913699-43913749	PFSK-1	brain:	n/a
13	chr18:43914226-43914276	NT2-D1	testis:	n/a
14	chr18:43914226-43914276	GM06990	blood:	n/a
15	chr18:43917496-43917546	A549	lung:	n/a
16	chr18:43913719-43913769	AG04450	lung:	fetal
17	chr18:43917496-43917546	PrEC	prostate:	n/a
18	chr18:43913699-43913749	Caco-2	colon:	n/a
19	chr18:43917496-43917546	SK-N-MC	brain:	n/a
20	chr18:43915662-43915712	HEEpiC	esophagus:	n/a
21	chr18:43914047-43914097	H1-hESC	embryonic stem cell:	embryo
22	chr18:43914047-43914097	K562	blood:	n/a
23	chr18:43915662-43915712	HAEpiC	amniotic membrane:	n/a
24	chr18:43914226-43914276	Caco-2	colon:	n/a
25	chr18:43915662-43915712	HCF	heart:	n/a
26	chr18:43917496-43917546	U87	brain:	n/a
27	chr18:43915901-43915951	GM12891	blood:	n/a
28	chr18:43914047-43914097	GM12878	blood:	n/a
29	chr18:43917496-43917546	GM12892	blood:	n/a
30	chr18:43913699-43913749	AG04449	skin:	fetal
31	chr18:43913719-43913769	HMEC	breast:	n/a
32	chr18:43917496-43917546	HCM	heart:	n/a
33	chr18:43913719-43913769	HRPEpiC	eye:	n/a
34	chr18:43913719-43913769	AoSMC	blood vessel:	n/a
35	chr18:43914226-43914276	HCT-116	colon:	n/a
36	chr18:43915662-43915712	GM12892	blood:	n/a
37	chr18:43913755-43913805	NHDF-neo	bronchial:	n/a
38	chr18:43914047-43914097	HUVEC	blood vessel:	n/a
39	chr18:43914226-43914276	HRCEpiC	kidney:	n/a
40	chr18:43915662-43915712	AG10803	skin:	n/a
41	chr18:43913755-43913805	SK-N-SH	brain:	n/a
42	chr18:43914047-43914097	HRCEpiC	kidney:	n/a
43	chr18:43913719-43913769	AG04449	skin:	fetal
44	chr18:43913755-43913805	HAEpiC	amniotic membrane:	n/a
45	chr18:43913755-43913805	ProgFib	skin:	n/a
46	chr18:43914264-43914314	HAEpiC	amniotic membrane:	n/a
47	chr18:43914264-43914314	K562	blood:	n/a
48	chr18:43914047-43914097	ECC-1	luminal epithelium:	n/a
49	chr18:43915662-43915712	BE2_C	brain:	n/a
50	chr18:43913699-43913749	IMR90	lung:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43912035..43913739-chr18:43924023..43926965,2	MCF-7	breast:
2	chr18:43912035..43913739-chr18:43924023..43926965,2	MCF-7	breast:
3	chr18:43922751..43924644-chr18:43951049..43953922,2	MCF-7	breast:
4	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:
5	chr18:43912706..43915480-chr18:43919399..43921708,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF165-1	chr18:43915856-43917609	NONHSAT059132
2	lnc-RNF165-1	chr18:43914187-43914298	NR_046357
3	lnc-RNF165-1	chr18:43915851-43917614	NR_046357
4	lnc-RNF165-1	chr18:43914206-43914298	NONHSAT059132
5	lnc-RNF165-1	chr18:43913931-43914088	NONHSAT059132
6	lnc-LOXHD1-1	chr18:43914928-43915292	ENSG00000248078
7	lnc-LOXHD1-1	chr18:43916080-43917171	ENSG00000248078

No data

Variant related genes	Relation type
RNF165	TF binding region
RNF165	CpG island
ENSG00000152242	chromatin interactions
ENSG00000141622	chromatin interactions
HAND1	miRNA target sites
RAB7L1	miRNA target sites

Extended variants
information (count: 674 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	rs373226454	chr18:43914671-43914672	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
26	rs553529490	chr18:43914677-43914678	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
27	rs62095677	chr18:43914680-43914681	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
28	rs79909160	chr18:43914682-43914683	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
29	rs59685383	chr18:43914684-43914685	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
30	rs57030664	chr18:43914692-43914693	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
31	rs554971255	chr18:43914695-43914696	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
32	rs576711358	chr18:43914698-43914699	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
33	rs73953817	chr18:43914746-43914747	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147688667	chr18:43914775-43914776	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
35	rs34000306	chr18:43914776-43914777	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
36	rs60120179	chr18:43914777-43914778	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
37	rs200868401	chr18:43914778-43914779	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
38	rs201682950	chr18:43914779-43914780	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
39	rs199901843	chr18:43914782-43914783	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
40	rs9958625	chr18:43914787-43914788	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532739411	chr18:43914798-43914799	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
42	rs541555240	chr18:43914860-43914861	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559860258	chr18:43914909-43914910	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373802873	chr18:43914962-43914963	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs200707418	chr18:43915008-43915009	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs535494684	chr18:43915009-43915010	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs556688147	chr18:43915018-43915019	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs397940090	chr18:43915030-43915031	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs375818785	chr18:43915041-43915042	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs530047306	chr18:43915075-43915076	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	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:843 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912600-43913800	Flanking Active TSS	Liver	Liver
2	chr18:43912800-43913800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
3	chr18:43912800-43913800	Flanking Active TSS	Dnd41	blood
4	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
6	chr18:43913000-43913800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43913000-43913800	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr18:43913000-43913800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr18:43913000-43913800	Flanking Active TSS	Fetal Brain Male	brain
10	chr18:43913000-43913800	Bivalent Enhancer	Placenta	Placenta
11	chr18:43913000-43914000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr18:43913000-43914800	Active TSS	Brain Hippocampus Middle	brain
13	chr18:43913000-43916000	Active TSS	Brain Angular Gyrus	brain
14	chr18:43913000-43918000	Active TSS	Fetal Brain Female	brain
15	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:43913200-43913800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
19	chr18:43913200-43913800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr18:43913200-43913800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr18:43913200-43913800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:43913200-43913800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
30	chr18:43913200-43913800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
31	chr18:43913200-43913800	Bivalent Enhancer	Spleen	Spleen
32	chr18:43913200-43914000	Enhancers	Primary B cells from peripheral blood	blood
33	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr18:43913200-43914400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:43913200-43914800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr18:43913200-43915400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:43913200-43915400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr18:43913200-43915800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:43913400-43913800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr18:43913400-43913800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:43913400-43913800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:43913400-43913800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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