Variant report

Variant	esv2751160
Chromosome Location	chr14:104807712-104912955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:896)
CpG islands
(count:3299)
Chromatin interactive
region (count:75)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:104853315-104853690	GM12878	blood:	n/a	n/a
2	BACH1	chr14:104910308-104910836	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr14:104873533-104873737	GM12878	blood:	n/a	chr14:104873580-104873591 chr14:104873618-104873629
4	BATF	chr14:104882766-104882975	GM12878	blood:	n/a	chr14:104882870-104882881
5	BATF	chr14:104873436-104873767	GM12878	blood:	n/a	chr14:104873580-104873591 chr14:104873618-104873629
6	BATF	chr14:104853348-104853593	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:104853356-104853621	GM12878	blood:	n/a	chr14:104853461-104853470
8	BCL3	chr14:104906905-104907311	GM12878	blood:	n/a	n/a
9	BCL3	chr14:104910404-104910832	GM12878	blood:	n/a	n/a
10	BCL3	chr14:104906971-104907201	GM12878	blood:	n/a	n/a
11	BCL3	chr14:104850572-104850917	GM12878	blood:	n/a	chr14:104850648-104850657
12	BCL3	chr14:104853374-104853619	GM12878	blood:	n/a	chr14:104853461-104853470
13	BCL3	chr14:104910462-104910720	GM12878	blood:	n/a	n/a
14	BCL3	chr14:104850568-104850914	GM12878	blood:	n/a	chr14:104850648-104850657
15	BCLAF1	chr14:104853385-104853683	GM12878	blood:	n/a	chr14:104853461-104853470
16	BHLHE40	chr14:104811740-104811940	HepG2	liver:	n/a	n/a
17	BHLHE40	chr14:104811665-104811782	GM12878	blood:	n/a	n/a
18	BHLHE40	chr14:104891142-104891342	K562	blood:	n/a	n/a
19	BHLHE40	chr14:104891140-104891268	GM12878	blood:	n/a	n/a
20	CBX3	chr14:104808070-104808820	HCT-116	colon:	n/a	n/a
21	CEBPB	chr14:104836980-104837263	A549	lung:	n/a	n/a
22	CEBPB	chr14:104817900-104818104	HepG2	liver:	n/a	chr14:104818065-104818076
23	CEBPB	chr14:104862635-104863004	MCF-7	breast:	n/a	chr14:104862810-104862823
24	CEBPB	chr14:104837024-104837262	HepG2	liver:	n/a	n/a
25	CEBPB	chr14:104862712-104862901	Hela-S3	cervix:	n/a	chr14:104862810-104862823
26	CEBPB	chr14:104862645-104863007	H1-hESC	embryonic stem cell:	n/a	chr14:104862810-104862823
27	CEBPB	chr14:104862673-104862964	HepG2	liver:	n/a	chr14:104862810-104862823
28	CEBPB	chr14:104862743-104862899	A549	lung:	n/a	chr14:104862810-104862823
29	CHD2	chr14:104808207-104808588	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr14:104909120-104909319	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr14:104836616-104836682	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr14:104808370-104808676	Hela-S3	cervix:	n/a	n/a
33	CREB1	chr14:104808384-104808562	A549	lung:	n/a	n/a
34	CREB1	chr14:104886313-104886828	GM12878	blood:	n/a	n/a
35	CREB1	chr14:104886256-104886838	GM12878	blood:	n/a	n/a
36	CTCF	chr14:104852600-104852750	GM12878	blood:	n/a	chr14:104852711-104852720 chr14:104852630-104852643
37	CTCF	chr14:104836699-104836833	Lung_OC	lung:	n/a	chr14:104836752-104836773 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
38	CTCF	chr14:104808359-104808625	H1-hESC	embryonic stem cell:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
39	CTCF	chr14:104866330-104866491	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:104808440-104808590	BE2_C	brain:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
41	CTCF	chr14:104900288-104900295	Lung_OC	lung:	n/a	n/a
42	CTCF	chr14:104852655-104852745	GM12878	blood:	n/a	chr14:104852711-104852720
43	CTCF	chr14:104852600-104852750	GM12873	blood:	n/a	chr14:104852711-104852720 chr14:104852630-104852643
44	CTCF	chr14:104852665-104852694	GM19240	blood:	n/a	n/a
45	CTCF	chr14:104808229-104808687	HepG2	liver:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
46	CTCF	chr14:104902260-104902410	HepG2	liver:	n/a	n/a
47	CTCF	chr14:104858337-104858455	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr14:104836650-104836977	H1-hESC	embryonic stem cell:	n/a	chr14:104836752-104836773 chr14:104836893-104836906 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
49	CTCF	chr14:104808240-104808390	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr14:104836720-104836870	GM12871	blood:	n/a	chr14:104836752-104836773 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774

(count:3299 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104856667-104856717	HCM	heart:	n/a
2	chr14:104852706-104852756	U87	brain:	n/a
3	chr14:104824020-104824070	HCF	heart:	n/a
4	chr14:104900453-104900503	H1-hESC	embryonic stem cell:	embryo
5	chr14:104888911-104888961	NH-A	brain:	n/a
6	chr14:104856667-104856717	HCM	heart:	n/a
7	chr14:104852706-104852756	U87	brain:	n/a
8	chr14:104824020-104824070	HCF	heart:	n/a
9	chr14:104900453-104900503	H1-hESC	embryonic stem cell:	embryo
10	chr14:104888911-104888961	NH-A	brain:	n/a
11	chr14:104866636-104866686	HRPEpiC	eye:	n/a
12	chr14:104834351-104834401	NB4	blood:	n/a
13	chr14:104854711-104854761	MCF-7	breast:	n/a
14	chr14:104896758-104896808	GM19239	blood:	n/a
15	chr14:104808474-104808524	HCM	heart:	n/a
16	chr14:104865112-104865162	HMEC	breast:	n/a
17	chr14:104896001-104896051	SK-N-SH_RA	brain:	n/a
18	chr14:104808474-104808524	HCF	heart:	n/a
19	chr14:104824020-104824070	AG04449	skin:	fetal
20	chr14:104889116-104889166	HIPEpiC	eye:	n/a
21	chr14:104837550-104837600	U87	brain:	n/a
22	chr14:104834425-104834475	SAEC	small airway:	n/a
23	chr14:104856500-104856550	T-47D	breast:	n/a
24	chr14:104834351-104834401	ProgFib	skin:	n/a
25	chr14:104896488-104896538	HRPEpiC	eye:	n/a
26	chr14:104870666-104870716	PFSK-1	brain:	n/a
27	chr14:104865792-104865842	GM12878	blood:	n/a
28	chr14:104850405-104850455	HRE	kidney:	n/a
29	chr14:104834351-104834401	ECC-1	luminal epithelium:	n/a
30	chr14:104851832-104851882	HIPEpiC	eye:	n/a
31	chr14:104834425-104834475	HUVEC	blood vessel:	n/a
32	chr14:104854711-104854761	BE2_C	brain:	n/a
33	chr14:104837363-104837413	Hepatocyte	liver:	n/a
34	chr14:104850405-104850455	MCF10A-Er-Src	breast:	n/a
35	chr14:104897608-104897658	BJ	skin:	n/a
36	chr14:104909505-104909555	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:104864723-104864773	Hela-S3	cervix:	n/a
38	chr14:104834351-104834401	HNPCEpiC	eye:	n/a
39	chr14:104852641-104852691	GM12878	blood:	n/a
40	chr14:104824167-104824217	BJ	skin:	n/a
41	chr14:104824167-104824217	GM19239	blood:	n/a
42	chr14:104889116-104889166	HNPCEpiC	eye:	n/a
43	chr14:104893636-104893686	NH-A	brain:	n/a
44	chr14:104854711-104854761	Jurkat	blood:	n/a
45	chr14:104864723-104864773	GM12878	blood:	n/a
46	chr14:104854711-104854761	HRCEpiC	kidney:	n/a
47	chr14:104888911-104888961	K562	blood:	n/a
48	chr14:104856872-104856922	PFSK-1	brain:	n/a
49	chr14:104900453-104900503	SK-N-SH	brain:	n/a
50	chr14:104856872-104856922	NHBE	bronchial:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:104650176..104652362-chr14:104808842..104810389,2	MCF-7	breast:
2	chr14:104890913..104893677-chr14:104894092..104896751,2	MCF-7	breast:
3	chr14:104828202..104830108-chr14:104833873..104835498,2	K562	blood:
4	chr14:104824690..104827500-chr14:105019187..105021176,2	MCF-7	breast:
5	chr14:104865956..104868004-chr14:104868266..104870745,2	K562	blood:
6	chr14:104812965..104815337-chr14:104815556..104818475,2	MCF-7	breast:
7	chr14:104898141..104899816-chr14:104900937..104903488,2	MCF-7	breast:
8	chr14:104820148..104824002-chr14:104833372..104835893,3	MCF-7	breast:
9	chr14:104634157..104636948-chr14:104811497..104813606,2	MCF-7	breast:
10	chr14:104837762..104840619-chr14:104842293..104845118,2	MCF-7	breast:
11	chr14:104842421..104844937-chr14:104846124..104848778,2	K562	blood:
12	chr14:104572503..104574382-chr14:104808640..104810339,2	MCF-7	breast:
13	chr14:104837762..104840619-chr14:104842293..104845118,2	MCF-7	breast:
14	chr14:104810225..104812544-chr14:104838511..104840510,3	MCF-7	breast:
15	chr14:104772029..104774740-chr14:104807798..104809607,2	K562	blood:
16	chr14:104902006..104903971-chr14:104906199..104909973,3	MCF-7	breast:
17	chr14:104890913..104893677-chr14:104894092..104896751,2	MCF-7	breast:
18	chr14:104846626..104850072-chr14:104851431..104854716,4	MCF-7	breast:
19	chr14:104842421..104844937-chr14:104846124..104848778,2	K562	blood:
20	chr14:104890951..104893457-chr14:104909378..104911636,2	MCF-7	breast:
21	chr14:104694371..104697146-chr14:104809063..104811864,2	MCF-7	breast:
22	chr14:104809922..104812049-chr14:104902257..104904031,2	MCF-7	breast:
23	chr14:104846626..104850072-chr14:104851431..104854716,4	MCF-7	breast:
24	chr14:104903421..104906757-chr14:104907729..104911933,3	MCF-7	breast:
25	chr14:104862114..104865269-chr14:104866594..104868712,3	MCF-7	breast:
26	chr14:104760654..104761549-chr14:104836417..104836978,2	MCF-7	breast:
27	chr14:104898141..104899816-chr14:104900937..104903488,2	MCF-7	breast:
28	chr14:104852349..104854257-chr14:104854522..104857044,2	MCF-7	breast:
29	chr14:104818033..104822202-chr14:104826990..104831579,5	MCF-7	breast:
30	chr14:104893761..104895389-chr14:104914243..104917076,2	MCF-7	breast:
31	chr14:104820148..104824002-chr14:104833372..104835893,3	MCF-7	breast:
32	chr14:104860512..104862041-chr14:104863587..104866008,2	K562	blood:
33	chr14:104827640..104830097-chr14:104849702..104851434,2	MCF-7	breast:
34	chr14:104903421..104906757-chr14:104907729..104911933,3	MCF-7	breast:
35	chr14:104808040..104808889-chr14:104836311..104836990,2	MCF-7	breast:
36	chr14:104828202..104830108-chr14:104833873..104835498,2	K562	blood:
37	chr14:104602116..104607691-chr14:104807710..104814314,8	MCF-7	breast:
38	chr14:104907745..104909314-chr14:105070369..105072440,2	MCF-7	breast:
39	chr14:104603516..104604409-chr14:104808267..104808949,2	MCF-7	breast:
40	chr14:104809922..104812049-chr14:104902257..104904031,2	MCF-7	breast:
41	chr14:104841247..104842926-chr14:104851671..104854407,2	MCF-7	breast:
42	chr14:104808000..104808682-chr3:120279791..120280680,2	MCF-7	breast:
43	chr14:104810513..104812777-chr14:104821342..104823710,2	MCF-7	breast:
44	chr14:104820971..104823040-chr14:104824214..104826295,2	MCF-7	breast:
45	chr14:104808040..104808889-chr14:104836311..104836990,2	MCF-7	breast:
46	chr14:104604366..104607521-chr14:104837580..104840047,4	MCF-7	breast:
47	chr14:104808137..104810517-chr14:104838226..104840189,2	MCF-7	breast:
48	chr14:104902006..104903971-chr14:104906199..104909973,3	MCF-7	breast:
49	chr14:104839152..104841523-chr14:104843087..104845999,3	MCF-7	breast:
50	chr14:104860512..104862041-chr14:104863587..104866008,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-614O9.3.1-2	chr14:104824919-104825367	NONHSAT040256
2	lnc-RP11-614O9.3.1-2	chr14:104828079-104828393	NONHSAT040256
3	lnc-RP11-614O9.3.1-1	chr14:104845218-104845288	ENSG00000258598
4	lnc-RP11-614O9.3.1-1	chr14:104842867-104843033	ENSG00000258598
5	lnc-RP11-614O9.3.1-1	chr14:104843878-104844157	ENSG00000258598

No data

Variant related genes	Relation type
RNU6-684P	TF binding region
ENSG00000258598	TF binding region
CEND1P1	TF binding region
RNU6-684P	CpG island
ENSG00000258598	CpG island
CEND1P1	CpG island
ENSG00000222761	chromatin interactions
ENSG00000066735	chromatin interactions
ENSG00000258748	chromatin interactions
ENSG00000258598	chromatin interactions
ENSG00000258986	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000184640	chromatin interactions

Extended variants
information (count: 4454 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4454 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8016091	chr14:104807712-104807713	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149509222	chr14:104807804-104807805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368214917	chr14:104807819-104807820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532159721	chr14:104807971-104807972	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552452668	chr14:104807991-104807992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111845523	chr14:104807993-104807994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs80215943	chr14:104808052-104808053	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188768709	chr14:104808063-104808064	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568045987	chr14:104808066-104808067	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533927348	chr14:104808070-104808071	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143952670	chr14:104808083-104808084	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139843778	chr14:104808110-104808111	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191530338	chr14:104808119-104808120	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141546388	chr14:104808120-104808121	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575507174	chr14:104808141-104808142	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577304691	chr14:104808154-104808155	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560982544	chr14:104808175-104808176	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574734311	chr14:104808184-104808185	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374381511	chr14:104808201-104808202	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560341966	chr14:104808227-104808228	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368816181	chr14:104808236-104808237	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146173674	chr14:104808268-104808269	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368221773	chr14:104808291-104808292	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183717616	chr14:104808298-104808299	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537322821	chr14:104808303-104808304	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568111222	chr14:104808304-104808305	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186652026	chr14:104808308-104808309	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374648209	chr14:104808314-104808315	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547479307	chr14:104808315-104808316	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74088520	chr14:104808320-104808321	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116436796	chr14:104808325-104808326	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10140054	chr14:104808367-104808368	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575420476	chr14:104808374-104808375	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538189675	chr14:104808403-104808404	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554793283	chr14:104808424-104808425	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373949577	chr14:104808429-104808430	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558593119	chr14:104808436-104808437	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574783770	chr14:104808450-104808451	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75497460	chr14:104808485-104808486	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142474085	chr14:104808486-104808487	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577294603	chr14:104808498-104808499	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4906452	chr14:104808535-104808536	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371477348	chr14:104808587-104808588	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113245018	chr14:104808589-104808590	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531529982	chr14:104808592-104808593	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs548508368	chr14:104808613-104808614	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75042593	chr14:104808666-104808667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs527298069	chr14:104808711-104808712	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373445282	chr14:104808731-104808732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs547049694	chr14:104808732-104808733	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104801200-104808600	Weak transcription	Fetal Lung	lung
2	chr14:104804000-104808600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:104806600-104811400	Weak transcription	Right Atrium	heart
4	chr14:104807800-104808000	Enhancers	Hela-S3	cervix
5	chr14:104808000-104808200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:104808000-104808200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr14:104808000-104808200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:104808000-104808400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr14:104808000-104808400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:104808000-104808400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr14:104808000-104808400	Active TSS	A549	lung
12	chr14:104808000-104808400	Flanking Active TSS	Hela-S3	cervix
13	chr14:104808000-104808600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr14:104808000-104809600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:104808000-104811000	Enhancers	Spleen	Spleen
16	chr14:104808200-104808400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:104808200-104808400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:104808200-104808600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:104808200-104809000	Enhancers	Fetal Intestine Large	intestine
20	chr14:104808200-104809200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:104808200-104809200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:104808200-104809800	Enhancers	Ovary	ovary
23	chr14:104808400-104808600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:104808400-104808600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:104808400-104808600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:104808400-104808600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:104808400-104808800	Enhancers	Fetal Muscle Trunk	muscle
28	chr14:104808400-104808800	Active TSS	Hela-S3	cervix
29	chr14:104808400-104809200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:104808400-104809200	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr14:104808400-104809800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:104808400-104810200	Enhancers	Placenta	Placenta
33	chr14:104808600-104808800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:104808600-104808800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:104808600-104808800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:104808600-104808800	Flanking Active TSS	Fetal Lung	lung
37	chr14:104808600-104809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:104808600-104809000	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:104808600-104809000	Enhancers	Fetal Intestine Small	intestine
40	chr14:104808600-104809000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr14:104808600-104809200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:104808600-104809200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:104808600-104809200	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr14:104808600-104809200	Bivalent Enhancer	Fetal Stomach	stomach
45	chr14:104808600-104809200	Enhancers	HepG2	liver
46	chr14:104808600-104809800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:104808600-104810400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:104808600-104812400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:104808800-104809000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr14:104808800-104809000	Enhancers	Fetal Brain Male	brain

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