Variant report

Variant	esv3357025
Chromosome Location	chr14:21702262-21737534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2595)
CpG islands
(count:366)
Chromatin interactive
region (count:90)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2595 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:21709409-21709593	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:21736068-21736120	K562	blood:	n/a	n/a
3	ARID3A	chr14:21711963-21711985	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:21711256-21711587	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:21717162-21717278	K562	blood:	n/a	n/a
6	ARID3A	chr14:21732200-21733006	HepG2	liver:	n/a	n/a
7	ARID3A	chr14:21737195-21738158	K562	blood:	n/a	n/a
8	ARID3A	chr14:21712624-21712985	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:21737436-21738247	HepG2	liver:	n/a	n/a
10	ATF1	chr14:21737526-21738185	K562	blood:	n/a	n/a
11	ATF2	chr14:21731973-21733035	GM12878	blood:	n/a	n/a
12	ATF2	chr14:21729447-21729836	GM12878	blood:	n/a	n/a
13	ATF2	chr14:21727624-21728013	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr14:21736929-21737878	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr14:21731544-21732278	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr14:21729052-21729484	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr14:21736898-21737748	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr14:21735629-21736731	GM12878	blood:	n/a	n/a
19	ATF2	chr14:21735848-21738400	GM12878	blood:	n/a	n/a
20	ATF2	chr14:21735362-21735856	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr14:21726892-21727596	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr14:21730290-21730933	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr14:21732138-21732971	GM12878	blood:	n/a	n/a
24	ATF2	chr14:21737251-21738411	GM12878	blood:	n/a	n/a
25	BACH1	chr14:21735698-21736021	K562	blood:	n/a	n/a
26	BATF	chr14:21732236-21732561	GM12878	blood:	n/a	chr14:21732455-21732465 chr14:21732451-21732461
27	BATF	chr14:21731822-21732559	GM12878	blood:	n/a	chr14:21732455-21732465 chr14:21732451-21732461
28	BATF	chr14:21733926-21734221	GM12878	blood:	n/a	chr14:21734053-21734064
29	BCL11A	chr14:21732207-21732610	GM12878	blood:	n/a	chr14:21732453-21732462 chr14:21732454-21732463
30	BCL3	chr14:21737194-21738062	A549	lung:	n/a	chr14:21737990-21738003
31	BCL3	chr14:21736964-21737430	A549	lung:	n/a	chr14:21737188-21737197
32	BCL3	chr14:21727073-21727426	K562	blood:	n/a	n/a
33	BCLAF1	chr14:21731491-21731826	GM12878	blood:	n/a	n/a
34	BCLAF1	chr14:21726995-21727466	K562	blood:	n/a	n/a
35	BCLAF1	chr14:21726818-21727567	K562	blood:	n/a	n/a
36	BCLAF1	chr14:21713989-21714387	GM12878	blood:	n/a	n/a
37	BCLAF1	chr14:21723447-21724382	GM12878	blood:	n/a	n/a
38	BCLAF1	chr14:21733808-21734347	GM12878	blood:	n/a	n/a
39	BCLAF1	chr14:21736442-21737733	GM12878	blood:	n/a	chr14:21737188-21737197
40	BCLAF1	chr14:21710768-21711305	GM12878	blood:	n/a	n/a
41	BCLAF1	chr14:21712549-21713102	GM12878	blood:	n/a	n/a
42	BCLAF1	chr14:21709359-21711746	GM12878	blood:	n/a	n/a
43	BCLAF1	chr14:21732126-21733056	GM12878	blood:	n/a	chr14:21732453-21732462 chr14:21732454-21732463
44	BCLAF1	chr14:21720323-21720739	GM12878	blood:	n/a	n/a
45	BCLAF1	chr14:21731848-21732313	K562	blood:	n/a	n/a
46	BCLAF1	chr14:21706763-21707518	GM12878	blood:	n/a	n/a
47	BCLAF1	chr14:21728983-21729484	K562	blood:	n/a	n/a
48	BCLAF1	chr14:21729129-21729488	GM12878	blood:	n/a	n/a
49	BCLAF1	chr14:21724730-21725441	GM12878	blood:	n/a	n/a
50	BCLAF1	chr14:21705331-21705994	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21725703-21725753	HCF	heart:	n/a
2	chr14:21734410-21734460	Caco-2	colon:	n/a
3	chr14:21731063-21731113	U87	brain:	n/a
4	chr14:21731063-21731113	BE2_C	brain:	n/a
5	chr14:21734410-21734460	IMR90	lung:	fetal
6	chr14:21725703-21725753	HEEpiC	esophagus:	n/a
7	chr14:21737252-21737302	SK-N-MC	brain:	n/a
8	chr14:21737252-21737302	HL-60	blood:	n/a
9	chr14:21725703-21725753	GM12892	blood:	n/a
10	chr14:21704611-21704661	AG04449	skin:	fetal
11	chr14:21731063-21731113	AG09319	gingival:	n/a
12	chr14:21731063-21731113	SK-N-SH_RA	brain:	n/a
13	chr14:21727471-21727521	NHDF-neo	bronchial:	n/a
14	chr14:21727471-21727521	MCF10A-Er-Src	breast:	n/a
15	chr14:21731063-21731113	IMR90	lung:	fetal
16	chr14:21731063-21731113	PFSK-1	brain:	n/a
17	chr14:21704611-21704661	CMK	blood:	n/a
18	chr14:21704611-21704661	GM06990	blood:	n/a
19	chr14:21731063-21731113	ProgFib	skin:	n/a
20	chr14:21725703-21725753	NB4	blood:	n/a
21	chr14:21725703-21725753	Caco-2	colon:	n/a
22	chr14:21725703-21725753	HIPEpiC	eye:	n/a
23	chr14:21727471-21727521	HCM	heart:	n/a
24	chr14:21737252-21737302	SAEC	small airway:	n/a
25	chr14:21727471-21727521	K562	blood:	n/a
26	chr14:21725703-21725753	SKMC	muscle:	n/a
27	chr14:21731063-21731113	A549	lung:	n/a
28	chr14:21725703-21725753	SAEC	small airway:	n/a
29	chr14:21734410-21734460	NHDF-neo	bronchial:	n/a
30	chr14:21737252-21737302	BE2_C	brain:	n/a
31	chr14:21731063-21731113	PrEC	prostate:	n/a
32	chr14:21725703-21725753	NH-A	brain:	n/a
33	chr14:21727471-21727521	AoSMC	blood vessel:	n/a
34	chr14:21704611-21704661	PFSK-1	brain:	n/a
35	chr14:21731063-21731113	HEK293	kidney:	embryo
36	chr14:21731063-21731113	AoSMC	blood vessel:	n/a
37	chr14:21704611-21704661	PrEC	prostate:	n/a
38	chr14:21727471-21727521	LNCaP	prostate:	n/a
39	chr14:21704611-21704661	A549	lung:	n/a
40	chr14:21731063-21731113	AG04449	skin:	fetal
41	chr14:21727471-21727521	T-47D	breast:	n/a
42	chr14:21737252-21737302	T-47D	breast:	n/a
43	chr14:21734410-21734460	HRPEpiC	eye:	n/a
44	chr14:21734410-21734460	U87	brain:	n/a
45	chr14:21704611-21704661	GM19239	blood:	n/a
46	chr14:21731063-21731113	SK-N-MC	brain:	n/a
47	chr14:21734410-21734460	AG04450	lung:	fetal
48	chr14:21737252-21737302	HAEpiC	amniotic membrane:	n/a
49	chr14:21734410-21734460	SK-N-MC	brain:	n/a
50	chr14:21734410-21734460	SK-N-SH_RA	brain:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:21737031..21737660-chr17:29297639..29298182,2	NB4	blood:
2	chr14:21704009..21707025-chr14:21707040..21709471,4	MCF-7	breast:
3	chr14:21702039..21704805-chr14:21710008..21711834,2	MCF-7	breast:
4	chr14:21720789..21724175-chr14:21848561..21851525,3	K562	blood:
5	chr14:21707431..21709141-chr14:21735831..21737898,2	K562	blood:
6	chr14:21713934..21716894-chr14:21726084..21727992,2	MCF-7	breast:
7	chr14:21700378..21702346-chr14:21819126..21821504,2	MCF-7	breast:
8	chr11:47663305..47664213-chr14:21737267..21737936,2	HCT-116	colon:
9	chr14:21708482..21710752-chr14:21732706..21735405,2	MCF-7	breast:
10	chr14:21707926..21709527-chr14:21851833..21853917,2	MCF-7	breast:
11	chr14:21726630..21729193-chr14:21742611..21744564,2	MCF-7	breast:
12	chr14:21734081..21737638-chr14:21753111..21756446,3	K562	blood:
13	chr14:21715916..21717624-chr14:21774839..21777114,2	MCF-7	breast:
14	chr14:21709759..21712361-chr14:21720311..21725270,5	K562	blood:
15	chr14:21712084..21713640-chr14:21715379..21717034,2	K562	blood:
16	chr14:21703629..21706503-chr14:21849764..21851749,2	MCF-7	breast:
17	chr14:21670001..21672457-chr14:21706378..21709017,2	K562	blood:
18	chr14:21729912..21732388-chr14:21794121..21797950,3	K562	blood:
19	chr14:21730988..21732970-chr14:21824045..21825778,2	K562	blood:
20	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
21	chr14:21687620..21689527-chr14:21733855..21735500,2	MCF-7	breast:
22	chr14:21702152..21704976-chr14:21712747..21715545,2	MCF-7	breast:
23	chr14:21678499..21681454-chr14:21736107..21737906,2	MCF-7	breast:
24	chr14:21720243..21722004-chr14:21769243..21771035,2	K562	blood:
25	chr14:21698033..21699942-chr14:21736432..21738329,2	MCF-7	breast:
26	chr14:21705289..21706946-chr14:21709944..21711637,2	MCF-7	breast:
27	chr14:21709578..21711363-chr14:21732079..21734857,2	MCF-7	breast:
28	chr14:21711515..21716714-chr14:21717085..21720110,6	K562	blood:
29	chr14:21698449..21701323-chr14:21702052..21705538,3	MCF-7	breast:
30	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
31	chr14:21725191..21730004-chr14:21826474..21830888,4	K562	blood:
32	chr14:21709759..21712361-chr14:21720311..21725270,5	K562	blood:
33	chr14:21731325..21733922-chr14:21791322..21794128,2	MCF-7	breast:
34	chr14:21737121..21738626-chr14:21850627..21853188,2	K562	blood:
35	chr1:45671664..45672380-chr14:21737105..21737971,2	Hela-S3	cervix:
36	chr14:21701373..21707828-chr14:21708039..21714266,10	K562	blood:
37	chr14:21705289..21706946-chr14:21709944..21711637,2	MCF-7	breast:
38	chr14:21701373..21707828-chr14:21708039..21714266,10	K562	blood:
39	chr14:21708563..21711469-chr14:21841010..21843260,2	K562	blood:
40	chr14:21725773..21728367-chr14:21769503..21772392,2	MCF-7	breast:
41	chr14:21709944..21712875-chr14:21904000..21906310,2	MCF-7	breast:
42	chr14:21736749..21737624-chr20:42086408..42086970,2	Hela-S3	cervix:
43	chr14:21737105..21737803-chr17:79008561..79009062,2	Hela-S3	cervix:
44	chr14:21709126..21711410-chr14:21715324..21718061,2	MCF-7	breast:
45	chr14:21727857..21729371-chr14:21850635..21853386,2	MCF-7	breast:
46	chr14:21725675..21728735-chr14:21786792..21790773,3	K562	blood:
47	chr14:21731613..21734582-chr14:21826282..21828114,3	MCF-7	breast:
48	chr14:21719014..21721564-chr14:21851971..21854155,2	K562	blood:
49	chr14:21700872..21703141-chr14:21723886..21726612,2	K562	blood:
50	chr14:21725390..21727095-chr14:21852518..21854130,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUPT16H-3	chr14:21737457-21737601	NONHSAT035669
2	lnc-SUPT16H-3	chr14:21737457-21737548	NONHSAT035670
3	lnc-SUPT16H-3	chr14:21731152-21731988	NONHSAT035670
4	lnc-SUPT16H-3	chr14:21731470-21731988	NONHSAT035669
5	lnc-SUPT16H-3	chr14:21730762-21730857	NONHSAT035669

No data

Variant related genes	Relation type
HNRNPC	TF binding region
HNRNPC	CpG island
ENSG00000181481	chromatin interactions
ENSG00000092201	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000109919	chromatin interactions
ENSG00000124193	chromatin interactions
ENSG00000260830	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000100888	chromatin interactions
ENSG00000092200	chromatin interactions
ENSG00000102096	chromatin interactions
ENSG00000162415	chromatin interactions

Extended variants
information (count: 1539 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1539 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201225619	chr14:21702267-21702268	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367883394	chr14:21702278-21702279	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11559128	chr14:21702300-21702301	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576266143	chr14:21702308-21702309	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371734475	chr14:21702314-21702315	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375750672	chr14:21702341-21702342	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542150570	chr14:21702374-21702375	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201098827	chr14:21702378-21702379	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs193127733	chr14:21702384-21702385	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554335934	chr14:21702389-21702390	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371870858	chr14:21702393-21702394	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527580002	chr14:21702426-21702427	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548819488	chr14:21702436-21702437	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs3215705	chr14:21702446-21702447	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397828628	chr14:21702449-21702450	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564298446	chr14:21702484-21702485	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185219488	chr14:21702528-21702529	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549829099	chr14:21702531-21702532	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200122070	chr14:21702634-21702635	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35131476	chr14:21702650-21702651	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569924370	chr14:21702674-21702675	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535605611	chr14:21702692-21702693	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145240275	chr14:21702797-21702798	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs531109715	chr14:21702815-21702816	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549637145	chr14:21702816-21702817	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150582024	chr14:21702819-21702820	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139636395	chr14:21702826-21702827	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570318413	chr14:21702830-21702831	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571314958	chr14:21702841-21702842	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539550257	chr14:21702843-21702844	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556250819	chr14:21702849-21702850	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190047120	chr14:21702890-21702891	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191678574	chr14:21702939-21702940	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555254189	chr14:21702946-21702947	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs367912354	chr14:21702962-21702963	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11850109	chr14:21702971-21702972	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539249508	chr14:21702983-21702984	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11269714	chr14:21703001-21703002	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201763769	chr14:21703003-21703004	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371864137	chr14:21703034-21703035	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377362104	chr14:21703075-21703076	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370415448	chr14:21703091-21703092	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs4982433	chr14:21703122-21703123	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533115544	chr14:21703159-21703160	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117165820	chr14:21703190-21703191	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559022515	chr14:21703203-21703204	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34098157	chr14:21703221-21703222	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74467633	chr14:21703232-21703233	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs184215107	chr14:21703250-21703251	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569329569	chr14:21703309-21703310	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ewing''s sarcoma	18628472	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21672600-21703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:21672800-21709000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:21672800-21725200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:21673000-21702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:21673000-21702800	Strong transcription	Fetal Intestine Large	intestine
9	chr14:21673200-21709200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:21673600-21706000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr14:21677800-21727000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:21681000-21714000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr14:21682400-21703400	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:21684000-21702600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:21684400-21705200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:21685600-21702400	Strong transcription	Thymus	Thymus
17	chr14:21685800-21703400	Strong transcription	GM12878-XiMat	blood
18	chr14:21686200-21702600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr14:21686400-21704400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:21687600-21706400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:21687600-21723200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:21688200-21712800	Strong transcription	HMEC	breast
23	chr14:21688200-21725200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:21688400-21704200	Strong transcription	HSMM	muscle
25	chr14:21688400-21712800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:21688600-21702400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:21688600-21707000	Strong transcription	Placenta	Placenta
28	chr14:21689000-21702600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:21689400-21703400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:21689600-21702400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:21689600-21704600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:21689600-21723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:21689600-21725000	Strong transcription	NHEK	skin
34	chr14:21689800-21709200	Strong transcription	Hela-S3	cervix
35	chr14:21689800-21716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:21690000-21703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:21690200-21705600	Weak transcription	Small Intestine	intestine
38	chr14:21691400-21703800	Strong transcription	HepG2	liver
39	chr14:21691600-21704600	Strong transcription	HUVEC	blood vessel
40	chr14:21692000-21703000	Strong transcription	HSMMtube	muscle
41	chr14:21692000-21730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:21692200-21702800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:21693000-21704200	Strong transcription	NH-A	brain
44	chr14:21693800-21702800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr14:21694400-21705600	Weak transcription	Aorta	Aorta
46	chr14:21694800-21702600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr14:21695000-21711600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:21695400-21702400	Genic enhancers	Primary T cells from cord blood	blood
49	chr14:21696400-21718400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:21696600-21702400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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