Variant report

Variant	nsv902417
Chromosome Location	chr14:105323300-105350355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:830)
CpG islands
(count:1343)
Chromatin interactive
region (count:94)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105330900-105331164	HepG2	liver:	n/a	n/a
2	ATF2	chr14:105330396-105330696	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:105330504-105330952	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:105330563-105331036	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr14:105338151-105339169	GM12878	blood:	n/a	n/a
6	BCL3	chr14:105338233-105339097	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:105332117-105332254	K562	blood:	n/a	n/a
8	BRCA1	chr14:105330583-105331276	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr14:105331578-105332342	K562	blood:	n/a	chr14:105331965-105331974
10	CEBPB	chr14:105330296-105330832	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr14:105338896-105339177	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:105330612-105330935	Hela-S3	cervix:	n/a	n/a
13	CEBPD	chr14:105330886-105331250	HepG2	liver:	n/a	n/a
14	CHD1	chr14:105348520-105348722	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr14:105332060-105332361	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr14:105331057-105331245	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr14:105330676-105331003	HepG2	liver:	n/a	n/a
18	CHD2	chr14:105330580-105331038	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr14:105332266-105332284	K562	blood:	n/a	n/a
20	CHD2	chr14:105330529-105331615	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr14:105342646-105342968	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr14:105337215-105337237	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr14:105323539-105323621	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr14:105332187-105332246	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr14:105331395-105332291	A549	lung:	n/a	n/a
26	CREB1	chr14:105330788-105331287	A549	lung:	n/a	n/a
27	CREB1	chr14:105330553-105331043	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTBP2	chr14:105330321-105331293	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr14:105331960-105332433	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:105332520-105332670	NHEK	skin:	n/a	n/a
31	CTCF	chr14:105337196-105337357	MCF-7	breast:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
32	CTCF	chr14:105338550-105338839	GM12891	blood:	n/a	n/a
33	CTCF	chr14:105345840-105345990	HBMEC	blood vessel:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
34	CTCF	chr14:105337239-105337338	Hela-S3	cervix:	n/a	chr14:105337275-105337288 chr14:105337273-105337291
35	CTCF	chr14:105337120-105337270	HFF	foreskin:	n/a	chr14:105337232-105337245
36	CTCF	chr14:105332420-105332570	BJ	skin:	n/a	n/a
37	CTCF	chr14:105337064-105337401	HepG2	liver:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
38	CTCF	chr14:105331260-105331410	NHEK	skin:	n/a	chr14:105331271-105331284
39	CTCF	chr14:105345840-105345990	HepG2	liver:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
40	CTCF	chr14:105337200-105337350	GM12873	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
41	CTCF	chr14:105337100-105337250	GM12870	blood:	n/a	chr14:105337232-105337245
42	CTCF	chr14:105337200-105337350	K562	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
43	CTCF	chr14:105323440-105323590	HEK293	kidney:	n/a	n/a
44	CTCF	chr14:105337160-105337310	K562	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
45	CTCF	chr14:105345920-105346070	GM12869	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
46	CTCF	chr14:105345920-105346070	GM12878	blood:	n/a	chr14:105345972-105345990 chr14:105345975-105345984 chr14:105345972-105345985 chr14:105345975-105345988
47	CTCF	chr14:105338535-105338538	NHEK	skin:	n/a	n/a
48	CTCF	chr14:105337200-105337350	AG04449	skin:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
49	CTCF	chr14:105337207-105337357	GM10248	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291
50	CTCF	chr14:105337200-105337350	GM12875	blood:	n/a	chr14:105337232-105337245 chr14:105337275-105337288 chr14:105337273-105337291

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105330230-105330280	SAEC	small airway:	n/a
2	chr14:105330230-105330280	SAEC	small airway:	n/a
3	chr14:105344718-105344768	HCF	heart:	n/a
4	chr14:105350290-105350340	AG09319	gingival:	n/a
5	chr14:105349776-105349826	ovcar-3	ovarian:	n/a
6	chr14:105342430-105342480	HCF	heart:	n/a
7	chr14:105330230-105330280	LNCaP	prostate:	n/a
8	chr14:105342430-105342480	PANC-1	pancreas:	n/a
9	chr14:105344718-105344768	NHBE	bronchial:	n/a
10	chr14:105330230-105330280	MCF-7	breast:	n/a
11	chr14:105344761-105344811	NHDF-neo	bronchial:	n/a
12	chr14:105332484-105332534	NB4	blood:	n/a
13	chr14:105342430-105342480	BJ	skin:	n/a
14	chr14:105344591-105344641	NHBE	bronchial:	n/a
15	chr14:105349455-105349505	AG04450	lung:	fetal
16	chr14:105332484-105332534	AoSMC	blood vessel:	n/a
17	chr14:105347803-105347853	AG09319	gingival:	n/a
18	chr14:105349455-105349505	HEEpiC	esophagus:	n/a
19	chr14:105339549-105339599	PFSK-1	brain:	n/a
20	chr14:105332627-105332677	GM12892	blood:	n/a
21	chr14:105332484-105332534	HRE	kidney:	n/a
22	chr14:105344591-105344641	PrEC	prostate:	n/a
23	chr14:105344761-105344811	SK-N-MC	brain:	n/a
24	chr14:105342430-105342480	ECC-1	luminal epithelium:	n/a
25	chr14:105350290-105350340	AoSMC	blood vessel:	n/a
26	chr14:105349455-105349505	NB4	blood:	n/a
27	chr14:105334648-105334698	LNCaP	prostate:	n/a
28	chr14:105342430-105342480	NHDF-neo	bronchial:	n/a
29	chr14:105342430-105342480	GM06990	blood:	n/a
30	chr14:105332484-105332534	HepG2	liver:	n/a
31	chr14:105344591-105344641	NT2-D1	testis:	n/a
32	chr14:105330630-105330680	NHDF-neo	bronchial:	n/a
33	chr14:105342430-105342480	NB4	blood:	n/a
34	chr14:105343597-105343647	HL-60	blood:	n/a
35	chr14:105330230-105330280	GM12878	blood:	n/a
36	chr14:105349607-105349657	AG09309	skin:	n/a
37	chr14:105347803-105347853	HNPCEpiC	eye:	n/a
38	chr14:105332600-105332650	IMR90	lung:	fetal
39	chr14:105344591-105344641	HRPEpiC	eye:	n/a
40	chr14:105349455-105349505	BE2_C	brain:	n/a
41	chr14:105343315-105343365	SK-N-SH_RA	brain:	n/a
42	chr14:105349607-105349657	HCM	heart:	n/a
43	chr14:105344591-105344641	BE2_C	brain:	n/a
44	chr14:105350290-105350340	HAEpiC	amniotic membrane:	n/a
45	chr14:105334648-105334698	HEEpiC	esophagus:	n/a
46	chr14:105336144-105336194	HAEpiC	amniotic membrane:	n/a
47	chr14:105332484-105332534	SK-N-SH_RA	brain:	n/a
48	chr14:105332627-105332677	HCPEpiC	choroid plexus:	n/a
49	chr14:105336144-105336194	HL-60	blood:	n/a
50	chr14:105349776-105349826	HRE	kidney:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105281635..105284024-chr14:105340547..105342098,2	MCF-7	breast:
2	chr14:105293628..105294624-chr14:105337330..105337838,2	MCF-7	breast:
3	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
4	chr14:105219031..105220671-chr14:105346376..105348521,2	MCF-7	breast:
5	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:
6	chr14:105331021..105331595-chr8:37962974..37963518,2	Hela-S3	cervix:
7	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
8	chr14:105329238..105330750-chr14:105398198..105400578,2	MCF-7	breast:
9	chr14:105322733..105324801-chr14:105327014..105329537,2	K562	blood:
10	chr14:105325199..105327039-chr14:105327761..105330678,2	K562	blood:
11	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
12	chr14:105349215..105352197-chr14:105846638..105849114,2	K562	blood:
13	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
14	chr14:105251130..105253358-chr14:105336625..105339105,2	MCF-7	breast:
15	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
16	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
17	chr14:105349366..105351471-chr14:105398354..105401032,2	MCF-7	breast:
18	chr14:105348765..105350400-chr14:105351876..105353640,2	MCF-7	breast:
19	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
20	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
21	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
22	chr14:105277673..105279757-chr14:105329358..105331314,2	K562	blood:
23	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
24	chr14:105322733..105324801-chr14:105327014..105329537,2	K562	blood:
25	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
26	chr14:105218520..105220093-chr14:105330553..105332132,2	K562	blood:
27	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
28	chr14:105331357..105331974-chr16:475636..476384,2	Hela-S3	cervix:
29	chr14:105330948..105331645-chr9:124131985..124132887,2	Hela-S3	cervix:
30	chr14:105331733..105332483-chr22:46692142..46692982,2	Hela-S3	cervix:
31	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
32	chr14:105329803..105331498-chr14:105500045..105502562,2	MCF-7	breast:
33	chr14:105261927..105264053-chr14:105340389..105343258,2	K562	blood:
34	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:
35	chr14:105331349..105332321-chr7:72971566..72972148,2	Hela-S3	cervix:
36	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
37	chr14:105330324..105332130-chr14:105360208..105362418,2	MCF-7	breast:
38	chr14:105170806..105173679-chr14:105343574..105346385,2	MCF-7	breast:
39	chr14:105247569..105249557-chr14:105347096..105349716,2	K562	blood:
40	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
41	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:
42	chr14:105218593..105220961-chr14:105330031..105332053,2	K562	blood:
43	chr14:105311864..105313874-chr14:105340355..105342482,2	MCF-7	breast:
44	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
45	chr14:105239791..105242217-chr14:105329726..105333005,4	MCF-7	breast:
46	chr14:105330661..105332395-chr14:105435326..105436995,2	MCF-7	breast:
47	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
48	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
49	chr14:105261883..105264033-chr14:105337531..105339628,2	MCF-7	breast:
50	chr14:105189491..105192321-chr14:105330355..105333549,3	MCF-7	breast:

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-1	chr14:105327335-105327765	NONHSAT040300
2	lnc-AKT1-1	chr14:105327188-105327882	NONHSAT040298
3	lnc-AKT1-1	chr14:105327063-105327427	NONHSAT040294
4	lnc-AKT1-1	chr14:105327063-105329049	NONHSAT040293
5	lnc-AKT1-1	chr14:105327314-105327973	NONHSAT040299
6	lnc-AKT1-1	chr14:105324129-105325113	ENSG00000258593.1
7	lnc-AKT1-1	chr14:105328672-105329100	NONHSAT040301
8	lnc-AKT1-1	chr14:105325379-105325618	ENSG00000258593.1
9	lnc-AKT1-1	chr14:105327909-105329049	NONHSAT040292
10	lnc-AKT1-1	chr14:105325183-105325493	NONHSAT040292
11	lnc-AKT1-1	chr14:105325183-105325493	NONHSAT040293
12	lnc-AKT1-4	chr14:105329920-105330291	NONHSAT040302
13	lnc-AKT1-1	chr14:105325778-105325789	NONHSAT040295
14	lnc-AKT1-1	chr14:105327974-105329049	NONHSAT040294
15	lnc-KIAA0284-3	chr14:105327183-105327694	NONHSAT040296
16	lnc-AKT1-1	chr14:105324129-105325173	ENSG00000258593.2
17	lnc-AKT1-1	chr14:105325098-105325205	NONHSAT040291
18	lnc-AKT1-1	chr14:105327785-105327843	NONHSAT040291
19	lnc-AKT1-1	chr14:105327063-105327687	NONHSAT040292
20	lnc-AKT1-1	chr14:105327188-105327362	NONHSAT040297
21	lnc-AKT1-1	chr14:105327493-105328919	NONHSAT040297
22	lnc-AKT1-1	chr14:105328529-105328626	NONHSAT040299
23	lnc-AHNAK2-6	chr14:105337647-105338626	NONHSAT040303
24	lnc-AKT1-1	chr14:105328126-105328768	NONHSAT040300
25	lnc-AKT1-1	chr14:105328010-105328919	NONHSAT040298
26	lnc-AKT1-1	chr14:105328195-105328281	NONHSAT040301
27	lnc-AKT1-1	chr14:105327564-105329057	NONHSAT040295
28	lnc-AKT1-4	chr14:105331110-105331392	NONHSAT040302
29	lnc-AKT1-1	chr14:105325981-105326662	NONHSAT040292
30	lnc-AKT1-1	chr14:105325942-105326662	NONHSAT040293
31	lnc-AKT1-1	chr14:105325769-105326662	NONHSAT040294
32	lnc-AKT1-1	chr14:105327922-105328954	NONHSAT040291
33	lnc-AKT1-1	chr14:105327506-105327765	NONHSAT040294
34	lnc-AHNAK2-6	chr14:105338787-105339212	NONHSAT040303
35	lnc-KIAA0284-3	chr14:105328548-105329057	NONHSAT040296

No data

Variant related genes	Relation type
ENSG00000258593	TF binding region
CEP170B	TF binding region
ENSG00000258593	CpG island
CEP170B	CpG island
ENSG00000090565	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000205930	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000260329	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000159086	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000075218	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000258811	chromatin interactions

Extended variants
information (count: 1217 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2919618	chr14:105323300-105323301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187642252	chr14:105323347-105323348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538811702	chr14:105323357-105323358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191358544	chr14:105323373-105323374	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184268314	chr14:105323383-105323384	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537975458	chr14:105323389-105323390	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2919617	chr14:105323390-105323391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574531565	chr14:105323411-105323412	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372043908	chr14:105323422-105323423	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79206914	chr14:105323424-105323425	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs372939992	chr14:105323427-105323428	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192314575	chr14:105323429-105323430	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545645289	chr14:105323430-105323431	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145137969	chr14:105323507-105323508	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531285176	chr14:105323544-105323545	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570688850	chr14:105323575-105323576	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2841218	chr14:105323581-105323582	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147166368	chr14:105323597-105323598	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140330297	chr14:105323628-105323629	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2841219	chr14:105323654-105323655	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532859351	chr14:105323675-105323676	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4983389	chr14:105323685-105323686	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539884535	chr14:105323721-105323722	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144176246	chr14:105323724-105323725	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537936552	chr14:105323745-105323746	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554688838	chr14:105323793-105323794	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568217082	chr14:105323824-105323825	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533891592	chr14:105323874-105323875	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117062957	chr14:105323889-105323890	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79091350	chr14:105323908-105323909	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375553592	chr14:105323913-105323914	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185207186	chr14:105323921-105323922	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149221980	chr14:105323970-105323971	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560393746	chr14:105324017-105324018	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112424674	chr14:105324064-105324065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142435217	chr14:105324082-105324083	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190051534	chr14:105324113-105324114	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182207509	chr14:105324120-105324121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561721294	chr14:105324161-105324162	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs540423137	chr14:105324167-105324168	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs572182190	chr14:105324218-105324219	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs11846387	chr14:105324299-105324300	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564134275	chr14:105324362-105324363	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs545963085	chr14:105324402-105324403	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs34344799	chr14:105324484-105324485	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560353333	chr14:105324493-105324494	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs562935938	chr14:105324502-105324503	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs531742998	chr14:105324504-105324505	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs116500307	chr14:105324508-105324509	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs140548864	chr14:105324512-105324513	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Cancer	20164919	CNVD

Chromatin state (count:1353 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
2	chr14:105312600-105329000	Weak transcription	HMEC	breast
3	chr14:105313200-105327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:105318800-105326200	Weak transcription	Pancreas	Pancrea
5	chr14:105319000-105325800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:105320200-105330400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:105321600-105329400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:105322000-105323800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:105322400-105323800	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:105322800-105323800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:105322800-105323800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:105322800-105323800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:105322800-105328600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:105322800-105329000	Weak transcription	Fetal Intestine Small	intestine
15	chr14:105323000-105324000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:105323000-105324000	Enhancers	Brain Angular Gyrus	brain
17	chr14:105323000-105328800	Weak transcription	HepG2	liver
18	chr14:105323200-105323600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:105323200-105323600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:105323200-105323600	Enhancers	Brain Hippocampus Middle	brain
21	chr14:105323200-105324200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr14:105323200-105327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:105323200-105328800	Weak transcription	NHEK	skin
24	chr14:105323400-105323600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:105323400-105323600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:105323400-105323800	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr14:105323400-105324000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:105323400-105324000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:105323400-105324000	Enhancers	Brain Anterior Caudate	brain
30	chr14:105323600-105323800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:105323600-105323800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:105323600-105323800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:105323600-105323800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:105323600-105323800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr14:105323600-105323800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:105323600-105324000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:105323600-105324000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:105323600-105324000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:105323600-105324200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:105323800-105324000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:105323800-105324000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:105323800-105324000	Active TSS	Brain Hippocampus Middle	brain
43	chr14:105323800-105324000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:105323800-105324000	Enhancers	Brain Substantia Nigra	brain
45	chr14:105323800-105325000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:105323800-105326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:105323800-105327400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:105323800-105327400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:105323800-105330200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:105324000-105328800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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