Variant report

Variant	esv1793916
Chromosome Location	chr14:105292942-105321643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:757)
CpG islands
(count:1468)
Chromatin interactive
region (count:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:105309952-105310298	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:105309848-105310593	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:105293388-105294331	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr14:105293954-105294144	K562	blood:	n/a	n/a
5	BHLHE40	chr14:105292777-105293009	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:105297136-105297489	K562	blood:	n/a	n/a
7	BHLHE40	chr14:105297149-105297499	HepG2	liver:	n/a	n/a
8	BRCA1	chr14:105294006-105294178	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr14:105311936-105311956	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr14:105293659-105293720	K562	blood:	n/a	n/a
11	CCNT2	chr14:105294218-105294248	K562	blood:	n/a	n/a
12	CEBPB	chr14:105318640-105318897	ECC-1	luminal epithelium:	n/a	chr14:105318818-105318827 chr14:105318816-105318827
13	CEBPB	chr14:105301155-105301359	K562	blood:	n/a	n/a
14	CEBPB	chr14:105318655-105318943	K562	blood:	n/a	chr14:105318818-105318827 chr14:105318816-105318827
15	CEBPB	chr14:105310360-105310752	H1-hESC	embryonic stem cell:	n/a	chr14:105310618-105310631
16	CEBPB	chr14:105318657-105318997	HepG2	liver:	n/a	chr14:105318818-105318827 chr14:105318816-105318827
17	CEBPB	chr14:105318545-105318976	A549	lung:	n/a	chr14:105318818-105318827 chr14:105318816-105318827
18	CEBPB	chr14:105318639-105318996	IMR90	lung:	n/a	chr14:105318818-105318827 chr14:105318816-105318827
19	CEBPB	chr14:105292884-105292965	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr14:105318726-105318933	Hela-S3	cervix:	n/a	chr14:105318818-105318827 chr14:105318816-105318827
21	CEBPD	chr14:105293967-105294310	HepG2	liver:	n/a	n/a
22	CHD1	chr14:105310508-105310663	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr14:105309989-105310220	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr14:105292596-105292967	Hela-S3	cervix:	n/a	chr14:105292812-105292819 chr14:105292767-105292777
25	CHD2	chr14:105293924-105294117	HepG2	liver:	n/a	n/a
26	CHD2	chr14:105292666-105292949	GM12878	blood:	n/a	chr14:105292812-105292819 chr14:105292767-105292777
27	CHD2	chr14:105293963-105294286	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr14:105309936-105310952	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr14:105292603-105293132	A549	lung:	n/a	n/a
30	CTBP2	chr14:105310107-105311112	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:105293402-105294463	MCF-7	breast:	n/a	chr14:105293855-105293868 chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105293852-105293870 chr14:105294152-105294161
32	CTCF	chr14:105294044-105294196	LNCaP	prostate:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
33	CTCF	chr14:105293756-105293857	GM12891	blood:	n/a	n/a
34	CTCF	chr14:105294018-105294238	GM19240	blood:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
35	CTCF	chr14:105292860-105293010	HAc	cerebellar:	n/a	n/a
36	CTCF	chr14:105294040-105294190	HFF	foreskin:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
37	CTCF	chr14:105292628-105293054	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr14:105294420-105294570	HCM	heart:	n/a	n/a
39	CTCF	chr14:105293963-105294241	GM19239	blood:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
40	CTCF	chr14:105293780-105293930	WI-38	lung:	n/a	chr14:105293855-105293868 chr14:105293852-105293870
41	CTCF	chr14:105292750-105293054	GM12891	blood:	n/a	n/a
42	CTCF	chr14:105293996-105294237	A549	lung:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
43	CTCF	chr14:105292824-105293038	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:105294040-105294190	RPTEC	kidney:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
45	CTCF	chr14:105292825-105292987	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr14:105292761-105292978	A549	lung:	n/a	n/a
47	CTCF	chr14:105292860-105293010	GM12869	blood:	n/a	n/a
48	CTCF	chr14:105293991-105294262	MCF-7	breast:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
49	CTCF	chr14:105292840-105292990	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr14:105294080-105294230	HCM	heart:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105293578-105293628	H1-hESC	embryonic stem cell:	embryo
2	chr14:105309352-105309402	HepG2	liver:	n/a
3	chr14:105306646-105306696	NT2-D1	testis:	n/a
4	chr14:105293760-105293810	Jurkat	blood:	n/a
5	chr14:105293578-105293628	H1-hESC	embryonic stem cell:	embryo
6	chr14:105309352-105309402	HepG2	liver:	n/a
7	chr14:105306646-105306696	NT2-D1	testis:	n/a
8	chr14:105293760-105293810	Jurkat	blood:	n/a
9	chr14:105293067-105293117	CMK	blood:	n/a
10	chr14:105293957-105294007	AG04449	skin:	fetal
11	chr14:105293866-105293916	HRCEpiC	kidney:	n/a
12	chr14:105311009-105311059	HEEpiC	esophagus:	n/a
13	chr14:105310421-105310471	HEEpiC	esophagus:	n/a
14	chr14:105303134-105303184	HRE	kidney:	n/a
15	chr14:105312726-105312776	AG10803	skin:	n/a
16	chr14:105312726-105312776	PrEC	prostate:	n/a
17	chr14:105312726-105312776	HMEC	breast:	n/a
18	chr14:105303134-105303184	IMR90	lung:	fetal
19	chr14:105318494-105318544	HMEC	breast:	n/a
20	chr14:105293067-105293117	RPTEC	kidney:	n/a
21	chr14:105293199-105293249	PrEC	prostate:	n/a
22	chr14:105310181-105310231	SK-N-SH	brain:	n/a
23	chr14:105309894-105309944	AG10803	skin:	n/a
24	chr14:105303134-105303184	HNPCEpiC	eye:	n/a
25	chr14:105293578-105293628	IMR90	lung:	fetal
26	chr14:105310181-105310231	HCPEpiC	choroid plexus:	n/a
27	chr14:105310421-105310471	ECC-1	luminal epithelium:	n/a
28	chr14:105293760-105293810	T-47D	breast:	n/a
29	chr14:105318279-105318329	SK-N-SH	brain:	n/a
30	chr14:105318459-105318509	HRE	kidney:	n/a
31	chr14:105310921-105310971	GM12892	blood:	n/a
32	chr14:105310639-105310689	HUVEC	blood vessel:	n/a
33	chr14:105302637-105302687	Hela-S3	cervix:	n/a
34	chr14:105293578-105293628	HL-60	blood:	n/a
35	chr14:105293199-105293249	AG10803	skin:	n/a
36	chr14:105318279-105318329	AG04450	lung:	fetal
37	chr14:105306646-105306696	BE2_C	brain:	n/a
38	chr14:105318279-105318329	NHBE	bronchial:	n/a
39	chr14:105297364-105297414	HRE	kidney:	n/a
40	chr14:105318494-105318544	HRE	kidney:	n/a
41	chr14:105310421-105310471	H1-hESC	embryonic stem cell:	embryo
42	chr14:105293067-105293117	SK-N-SH_RA	brain:	n/a
43	chr14:105293957-105294007	HEEpiC	esophagus:	n/a
44	chr14:105302637-105302687	IMR90	lung:	fetal
45	chr14:105293067-105293117	SAEC	small airway:	n/a
46	chr14:105293878-105293928	ECC-1	luminal epithelium:	n/a
47	chr14:105310181-105310231	HepG2	liver:	n/a
48	chr14:105310921-105310971	AG09319	gingival:	n/a
49	chr14:105310921-105310971	HAEpiC	amniotic membrane:	n/a
50	chr14:105293866-105293916	NT2-D1	testis:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105313078..105314638-chr15:99394712..99397073,2	MCF-7	breast:
2	chr14:105318741..105320546-chr14:105320767..105322575,2	MCF-7	breast:
3	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
4	chr14:105282552..105286026-chr14:105289483..105293569,5	K562	blood:
5	chr14:105218316..105220941-chr14:105310362..105313289,2	MCF-7	breast:
6	chr14:105189504..105190527-chr14:105292721..105293350,3	MCF-7	breast:
7	chr14:105309392..105312329-chr14:105316131..105318426,2	K562	blood:
8	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
9	chr14:105234738..105235318-chr14:105293407..105294201,2	K562	blood:
10	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
11	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:
12	chr14:105292450..105295087-chr14:105329500..105333525,7	MCF-7	breast:
13	chr14:105298884..105302177-chr14:105308001..105311152,3	MCF-7	breast:
14	chr14:105234590..105235623-chr14:105292148..105293402,8	K562	blood:
15	chr14:105214906..105217436-chr14:105291555..105293979,2	K562	blood:
16	chr14:105293691..105294557-chr14:105406827..105407640,3	MCF-7	breast:
17	chr14:105292149..105293877-chr14:105432490..105434872,2	MCF-7	breast:
18	chr14:105292002..105293559-chr14:105403118..105405949,2	MCF-7	breast:
19	chr14:105319643..105321546-chr14:105328371..105330492,2	K562	blood:
20	chr14:105214906..105218911-chr14:105291555..105293979,3	K562	blood:
21	chr14:105235443..105237438-chr14:105291289..105294293,4	K562	blood:
22	chr14:105218306..105221418-chr14:105291704..105295058,3	MCF-7	breast:
23	chr14:105293283..105294221-chr14:105511851..105512622,2	MCF-7	breast:
24	chr14:105309392..105312329-chr14:105316131..105318426,2	K562	blood:
25	chr14:105293628..105294624-chr14:105337330..105337838,2	MCF-7	breast:
26	chr14:105311864..105313874-chr14:105340355..105342482,2	MCF-7	breast:
27	chr14:105294072..105294589-chr14:105362751..105363336,2	MCF-7	breast:
28	chr14:105309593..105311570-chr14:105314429..105316740,2	K562	blood:
29	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
30	chr14:105233810..105238299-chr14:105291361..105295745,6	K562	blood:
31	chr14:105291374..105295422-chr14:105328190..105336195,18	MCF-7	breast:
32	chr14:105264645..105268219-chr14:105292165..105294813,6	K562	blood:
33	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:
34	chr14:105190468..105192484-chr14:105291233..105293061,2	MCF-7	breast:
35	chr14:105287225..105290811-chr14:105291462..105294551,5	K562	blood:
36	chr14:105309612..105312495-chr14:105330781..105333618,2	K562	blood:
37	chr14:105289983..105292400-chr14:105295807..105297431,2	MCF-7	breast:
38	chr14:105314063..105316445-chr14:105330561..105333077,2	MCF-7	breast:
39	chr14:105234486..105235367-chr14:105292449..105293276,4	MCF-7	breast:
40	chr14:105308120..105310289-chr14:105318895..105321279,2	MCF-7	breast:
41	chr14:105319804..105322828-chr14:105330628..105333185,3	MCF-7	breast:
42	chr14:105234529..105236014-chr14:105292452..105293414,8	MCF-7	breast:
43	chr14:105280966..105282808-chr14:105292129..105294295,2	K562	blood:
44	chr14:105309593..105311570-chr14:105314429..105316740,2	K562	blood:
45	chr14:105226070..105227570-chr14:105291620..105294600,2	MCF-7	breast:
46	chr14:105189826..105192403-chr14:105291424..105294271,3	MCF-7	breast:
47	chr14:105280954..105282466-chr14:105292119..105293629,2	K562	blood:
48	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
49	chr14:105318741..105320546-chr14:105320767..105322575,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-3	chr14:105297175-105297508	NONHSAT040287

No data

Variant related genes	Relation type
ENSG00000258811	TF binding region
RPS26P49	TF binding region
RPS2P4	TF binding region
ENSG00000258811	CpG island
RPS26P49	CpG island
RPS2P4	CpG island
ENSG00000184990	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000099814	chromatin interactions

Extended variants
information (count: 1040 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559718257	chr14:105292955-105292956	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs528717222	chr14:105292967-105292968	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs551801669	chr14:105292976-105292977	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs73350382	chr14:105292978-105292979	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs542263285	chr14:105292994-105292995	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs544606913	chr14:105293019-105293020	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs559819314	chr14:105293038-105293039	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs200583895	chr14:105293177-105293178	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs12323856	chr14:105293185-105293186	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs537273676	chr14:105293307-105293308	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs377100518	chr14:105293360-105293361	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs572247140	chr14:105293475-105293476	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs541022344	chr14:105293480-105293481	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs73350383	chr14:105293497-105293498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs184695073	chr14:105293534-105293535	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs536643651	chr14:105293559-105293560	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs188465925	chr14:105293570-105293571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs573289965	chr14:105293573-105293574	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs538909589	chr14:105293582-105293583	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs558607462	chr14:105293594-105293595	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs369417985	chr14:105293668-105293669	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs544120117	chr14:105293718-105293719	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs376284050	chr14:105293770-105293771	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs373326006	chr14:105293785-105293786	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs561037324	chr14:105293837-105293838	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs574149998	chr14:105293849-105293850	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs564166184	chr14:105293884-105293885	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs11629188	chr14:105293940-105293941	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs559682700	chr14:105293958-105293959	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs532000780	chr14:105293991-105293992	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs375981642	chr14:105294022-105294023	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs146989054	chr14:105294145-105294146	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs370052879	chr14:105294154-105294155	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs369284940	chr14:105294247-105294248	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs201063270	chr14:105294248-105294249	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs375222913	chr14:105294249-105294250	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs199840946	chr14:105294254-105294255	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs531123469	chr14:105294282-105294283	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs550940573	chr14:105294318-105294319	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs75925957	chr14:105294325-105294326	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs563875766	chr14:105294346-105294347	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs193043397	chr14:105294363-105294364	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs547138349	chr14:105294385-105294386	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs566850900	chr14:105294387-105294388	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs569397779	chr14:105294434-105294435	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs529476015	chr14:105294496-105294497	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs538692967	chr14:105294525-105294526	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs374293170	chr14:105294690-105294691	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs557618958	chr14:105294753-105294754	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553417342	chr14:105294754-105294755	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105291800-105294400	Enhancers	Spleen	Spleen
2	chr14:105292000-105293400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:105292000-105293400	Active TSS	NHEK	skin
4	chr14:105292000-105293600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:105292000-105293600	Active TSS	A549	lung
6	chr14:105292000-105293800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:105292000-105293800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:105292000-105294000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:105292000-105294200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:105292000-105294200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:105292000-105294200	Active TSS	Brain Angular Gyrus	brain
12	chr14:105292000-105294400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:105292000-105294400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:105292200-105293000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr14:105292200-105293400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:105292200-105293600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105292200-105293600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:105292200-105293600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:105292200-105293600	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr14:105292200-105293800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:105292200-105293800	Active TSS	Brain Substantia Nigra	brain
22	chr14:105292200-105294000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:105292200-105294200	Enhancers	Small Intestine	intestine
24	chr14:105292200-105294200	Active TSS	NHDF-Ad	bronchial
25	chr14:105292200-105294400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr14:105292400-105293400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr14:105292400-105293400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:105292400-105293400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:105292400-105293400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:105292400-105293400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:105292400-105293400	Active TSS	Aorta	Aorta
32	chr14:105292400-105293400	Active TSS	Brain Cingulate Gyrus	brain
33	chr14:105292400-105293400	Active TSS	Left Ventricle	heart
34	chr14:105292400-105293400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr14:105292400-105293400	Active TSS	K562	blood
36	chr14:105292400-105293600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr14:105292400-105293600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:105292400-105293600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr14:105292400-105293600	Active TSS	Brain Hippocampus Middle	brain
40	chr14:105292400-105293600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:105292400-105293600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:105292400-105293600	Active TSS	Rectal Smooth Muscle	rectum
43	chr14:105292400-105293600	Active TSS	Right Atrium	heart
44	chr14:105292400-105293600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:105292400-105293600	Active TSS	HepG2	liver
46	chr14:105292400-105293800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr14:105292400-105293800	Active TSS	Hela-S3	cervix
48	chr14:105292400-105294000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:105292400-105294000	Active TSS	Colon Smooth Muscle	Colon
50	chr14:105292400-105294000	Active TSS	Fetal Kidney	kidney

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