Variant report

Variant	nsv983804
Chromosome Location	chr14:21730434-21759672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1182)
CpG islands
(count:977)
Chromatin interactive
region (count:48)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:21737195-21738158	K562	blood:	n/a	n/a
2	ARID3A	chr14:21736068-21736120	K562	blood:	n/a	n/a
3	ARID3A	chr14:21732200-21733006	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:21737436-21738247	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:21747410-21747610	HepG2	liver:	n/a	n/a
6	ATF1	chr14:21737526-21738185	K562	blood:	n/a	n/a
7	ATF2	chr14:21732138-21732971	GM12878	blood:	n/a	n/a
8	ATF2	chr14:21737251-21738411	GM12878	blood:	n/a	n/a
9	ATF2	chr14:21735848-21738400	GM12878	blood:	n/a	n/a
10	ATF2	chr14:21730290-21730933	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr14:21731544-21732278	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr14:21735629-21736731	GM12878	blood:	n/a	n/a
13	ATF2	chr14:21731973-21733035	GM12878	blood:	n/a	n/a
14	ATF2	chr14:21735362-21735856	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr14:21736898-21737748	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr14:21736929-21737878	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr14:21735698-21736021	K562	blood:	n/a	n/a
18	BATF	chr14:21731822-21732559	GM12878	blood:	n/a	chr14:21732455-21732465 chr14:21732451-21732461
19	BATF	chr14:21733926-21734221	GM12878	blood:	n/a	chr14:21734053-21734064
20	BATF	chr14:21732236-21732561	GM12878	blood:	n/a	chr14:21732455-21732465 chr14:21732451-21732461
21	BCL11A	chr14:21732207-21732610	GM12878	blood:	n/a	chr14:21732453-21732462 chr14:21732454-21732463
22	BCL3	chr14:21736964-21737430	A549	lung:	n/a	chr14:21737188-21737197
23	BCL3	chr14:21737194-21738062	A549	lung:	n/a	chr14:21737990-21738003
24	BCLAF1	chr14:21731491-21731826	GM12878	blood:	n/a	n/a
25	BCLAF1	chr14:21736442-21737733	GM12878	blood:	n/a	chr14:21737188-21737197
26	BCLAF1	chr14:21737799-21738615	GM12878	blood:	n/a	chr14:21738216-21738225 chr14:21737990-21738003
27	BCLAF1	chr14:21731848-21732313	K562	blood:	n/a	n/a
28	BCLAF1	chr14:21733808-21734347	GM12878	blood:	n/a	n/a
29	BCLAF1	chr14:21732126-21733056	GM12878	blood:	n/a	chr14:21732453-21732462 chr14:21732454-21732463
30	BHLHE40	chr14:21737558-21738337	GM12878	blood:	n/a	n/a
31	BHLHE40	chr14:21741021-21741158	K562	blood:	n/a	n/a
32	BHLHE40	chr14:21747457-21747741	HepG2	liver:	n/a	n/a
33	BHLHE40	chr14:21737435-21737967	K562	blood:	n/a	n/a
34	BHLHE40	chr14:21731802-21731811	GM12878	blood:	n/a	n/a
35	BHLHE40	chr14:21736978-21737138	K562	blood:	n/a	n/a
36	BHLHE40	chr14:21733964-21734185	GM12878	blood:	n/a	n/a
37	BRCA1	chr14:21737028-21738262	HepG2	liver:	n/a	n/a
38	BRCA1	chr14:21737510-21737990	GM12878	blood:	n/a	n/a
39	BRCA1	chr14:21730667-21730856	GM12878	blood:	n/a	n/a
40	BRCA1	chr14:21737406-21738551	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr14:21736257-21737286	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr14:21736455-21737204	Hela-S3	cervix:	n/a	n/a
43	CCNT2	chr14:21737860-21738079	K562	blood:	n/a	chr14:21737994-21738003 chr14:21738048-21738057
44	CCNT2	chr14:21736279-21736737	K562	blood:	n/a	n/a
45	CEBPB	chr14:21737994-21738185	HepG2	liver:	n/a	chr14:21738093-21738104 chr14:21738094-21738103
46	CEBPB	chr14:21737580-21738284	A549	lung:	n/a	chr14:21738093-21738104 chr14:21738094-21738103
47	CEBPB	chr14:21737999-21738319	A549	lung:	n/a	chr14:21738093-21738104 chr14:21738094-21738103
48	CEBPB	chr14:21750063-21750281	HepG2	liver:	n/a	chr14:21750204-21750215
49	CEBPB	chr14:21747455-21747537	IMR90	lung:	n/a	chr14:21747467-21747478
50	CEBPB	chr14:21737862-21738305	HepG2	liver:	n/a	chr14:21738093-21738104 chr14:21738094-21738103

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21737935-21737985	HRE	kidney:	n/a
2	chr14:21737935-21737985	HRE	kidney:	n/a
3	chr14:21737935-21737985	HCF	heart:	n/a
4	chr14:21755658-21755708	ovcar-3	ovarian:	n/a
5	chr14:21738303-21738353	H1-hESC	embryonic stem cell:	embryo
6	chr14:21756231-21756281	Jurkat	blood:	n/a
7	chr14:21737935-21737985	SK-N-SH_RA	brain:	n/a
8	chr14:21755820-21755870	HUVEC	blood vessel:	n/a
9	chr14:21737252-21737302	GM12892	blood:	n/a
10	chr14:21737765-21737815	NHBE	bronchial:	n/a
11	chr14:21737935-21737985	SK-N-SH	brain:	n/a
12	chr14:21737751-21737801	Hela-S3	cervix:	n/a
13	chr14:21738303-21738353	HepG2	liver:	n/a
14	chr14:21756040-21756090	HEEpiC	esophagus:	n/a
15	chr14:21738077-21738127	BE2_C	brain:	n/a
16	chr14:21737751-21737801	SK-N-SH	brain:	n/a
17	chr14:21756231-21756281	MCF10A-Er-Src	breast:	n/a
18	chr14:21738077-21738127	SKMC	muscle:	n/a
19	chr14:21755820-21755870	T-47D	breast:	n/a
20	chr14:21738303-21738353	HEK293	kidney:	embryo
21	chr14:21738093-21738143	MCF10A-Er-Src	breast:	n/a
22	chr14:21737765-21737815	AG09319	gingival:	n/a
23	chr14:21737765-21737815	LNCaP	prostate:	n/a
24	chr14:21737935-21737985	HCT-116	colon:	n/a
25	chr14:21734410-21734460	MCF-7	breast:	n/a
26	chr14:21755820-21755870	GM19239	blood:	n/a
27	chr14:21737935-21737985	K562	blood:	n/a
28	chr14:21734410-21734460	HMEC	breast:	n/a
29	chr14:21737935-21737985	AG10803	skin:	n/a
30	chr14:21737878-21737928	MCF-7	breast:	n/a
31	chr14:21734410-21734460	HPAEpiC	pulmonary alveolar:	n/a
32	chr14:21755798-21755848	U87	brain:	n/a
33	chr14:21731063-21731113	GM06990	blood:	n/a
34	chr14:21755820-21755870	BE2_C	brain:	n/a
35	chr14:21756231-21756281	ovcar-3	ovarian:	n/a
36	chr14:21737751-21737801	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:21756040-21756090	Hela-S3	cervix:	n/a
38	chr14:21755798-21755848	HRE	kidney:	n/a
39	chr14:21737252-21737302	HCF	heart:	n/a
40	chr14:21738473-21738523	NT2-D1	testis:	n/a
41	chr14:21738473-21738523	NHDF-neo	bronchial:	n/a
42	chr14:21734410-21734460	U87	brain:	n/a
43	chr14:21738473-21738523	Caco-2	colon:	n/a
44	chr14:21738093-21738143	Jurkat	blood:	n/a
45	chr14:21738473-21738523	GM19239	blood:	n/a
46	chr14:21737751-21737801	HCM	heart:	n/a
47	chr14:21738077-21738127	HCT-116	colon:	n/a
48	chr14:21737765-21737815	HCF	heart:	n/a
49	chr14:21737751-21737801	HepG2	liver:	n/a
50	chr14:21738093-21738143	ProgFib	skin:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21734081..21737638-chr14:21753111..21756446,3	K562	blood:
2	chr14:21736116..21738853-chr14:21744759..21747414,4	MCF-7	breast:
3	chr14:21730203..21732388-chr14:21795365..21797950,2	K562	blood:
4	chr14:21729912..21732388-chr14:21794121..21797950,3	K562	blood:
5	chr14:21738165..21739837-chr14:21745511..21747672,2	K562	blood:
6	chr14:21732878..21735093-chr14:21822568..21824225,2	K562	blood:
7	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
8	chr14:21726630..21729193-chr14:21742611..21744564,2	MCF-7	breast:
9	chr1:45671664..45672380-chr14:21737105..21737971,2	Hela-S3	cervix:
10	chr14:21732486..21734251-chr14:21742553..21744073,2	MCF-7	breast:
11	chr14:21736749..21737624-chr20:42086408..42086970,2	Hela-S3	cervix:
12	chr14:21736434..21738367-chr14:21826392..21828107,2	MCF-7	breast:
13	chr14:21678499..21681454-chr14:21736107..21737906,2	MCF-7	breast:
14	chr14:21736417..21739908-chr14:21744669..21746956,5	MCF-7	breast:
15	chr14:21734765..21737618-chr14:21748763..21750396,2	K562	blood:
16	chr14:21731892..21738562-chr14:21850801..21854193,10	MCF-7	breast:
17	chr14:21736017..21738866-chr14:21751856..21755480,3	MCF-7	breast:
18	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
19	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
20	chr14:21751576..21753820-chr14:21765651..21767514,2	MCF-7	breast:
21	chr14:21738165..21739837-chr14:21745511..21747672,2	K562	blood:
22	chr14:21737121..21738626-chr14:21850627..21853188,2	K562	blood:
23	chr14:21736078..21738930-chr14:21751792..21754705,3	MCF-7	breast:
24	chr14:21729320..21731037-chr14:21850307..21852347,2	K562	blood:
25	chr14:21736447..21738561-chr14:21758872..21762321,3	MCF-7	breast:
26	chr14:21734081..21737638-chr14:21753111..21756446,3	K562	blood:
27	chr14:21736489..21738626-chr14:21851688..21853909,3	K562	blood:
28	chr14:21730988..21732970-chr14:21824045..21825778,2	K562	blood:
29	chr14:21737810..21738535-chr17:41444968..41445541,2	Hela-S3	cervix:
30	chr11:47663305..47664213-chr14:21737267..21737936,2	HCT-116	colon:
31	chr14:21731325..21733922-chr14:21791322..21794128,2	MCF-7	breast:
32	chr14:21757631..21759281-chr14:21771209..21774120,2	K562	blood:
33	chr1:205718690..205719263-chr14:21737810..21738344,2	Hela-S3	cervix:
34	chr14:21735788..21737662-chr17:57969823..57971989,2	MCF-7	breast:
35	chr14:21731095..21732813-chr14:21767081..21768936,2	K562	blood:
36	chr14:21737105..21737803-chr17:79008561..79009062,2	Hela-S3	cervix:
37	chr14:21731613..21734582-chr14:21826282..21828114,3	MCF-7	breast:
38	chr14:21736835..21739370-chr14:21741184..21743708,2	MCF-7	breast:
39	chr14:21698033..21699942-chr14:21736432..21738329,2	MCF-7	breast:
40	chr14:21733164..21734781-chr14:21745082..21746648,2	MCF-7	breast:
41	chr14:21732396..21736856-chr14:21795995..21798414,4	K562	blood:
42	chr14:21737383..21737919-chrX:48775772..48776468,2	Hela-S3	cervix:
43	chr14:21737031..21737660-chr17:29297639..29298182,2	NB4	blood:
44	chr14:21687620..21689527-chr14:21733855..21735500,2	MCF-7	breast:
45	chr14:21736080..21739636-chr14:21765775..21769584,7	MCF-7	breast:
46	chr14:21736832..21738818-chr14:21756962..21758604,2	MCF-7	breast:
47	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
48	chr14:21731127..21734828-chr14:21850549..21852828,3	K562	blood:

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

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

No data

Variant related genes	Relation type
HNRNPC	TF binding region
RPGRIP1	TF binding region
HNRNPC	CpG island
RPGRIP1	CpG island
ENSG00000092199	chromatin interactions
ENSG00000092201	chromatin interactions
ENSG00000102096	chromatin interactions
ENSG00000109919	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000124193	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000181481	chromatin interactions
ENSG00000260830	chromatin interactions
ENSG00000092200	chromatin interactions

Extended variants
information (count: 1162 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188288686	chr14:21730453-21730454	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372671804	chr14:21730471-21730472	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs71410273	chr14:21730484-21730485	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576489552	chr14:21730551-21730552	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529646326	chr14:21730563-21730564	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561632101	chr14:21730598-21730599	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs11846887	chr14:21730640-21730641	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35478263	chr14:21730701-21730702	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566550561	chr14:21730874-21730875	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538858269	chr14:21730921-21730922	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558750813	chr14:21730949-21730950	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs149345420	chr14:21730950-21730951	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs375136815	chr14:21731042-21731043	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369164304	chr14:21731057-21731058	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529634305	chr14:21731071-21731072	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375914435	chr14:21731121-21731122	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370166803	chr14:21731122-21731123	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374394212	chr14:21731123-21731124	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376677885	chr14:21731124-21731125	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538097663	chr14:21731231-21731232	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs181797302	chr14:21731363-21731364	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs61977464	chr14:21731427-21731428	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs574817795	chr14:21731577-21731578	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs548497009	chr14:21731682-21731683	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs540253004	chr14:21731696-21731697	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs186410745	chr14:21731711-21731712	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs563425267	chr14:21731791-21731792	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs144698363	chr14:21731803-21731804	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs552352071	chr14:21731813-21731814	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs148111550	chr14:21731865-21731866	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs531806670	chr14:21731890-21731891	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs372550925	chr14:21731978-21731979	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs1142288	chr14:21732007-21732008	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs555410739	chr14:21732033-21732034	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs191209943	chr14:21732063-21732064	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs570975483	chr14:21732067-21732068	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs112068455	chr14:21732074-21732075	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs183575816	chr14:21732121-21732122	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs556373670	chr14:21732213-21732214	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs546248475	chr14:21732252-21732253	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs563535675	chr14:21732257-21732258	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs560304775	chr14:21732260-21732261	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs532204670	chr14:21732265-21732266	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs373103552	chr14:21732295-21732296	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs34006117	chr14:21732310-21732311	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs535095556	chr14:21732317-21732318	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs186821133	chr14:21732328-21732329	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs548499236	chr14:21732346-21732347	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547097315	chr14:21732364-21732365	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs147273701	chr14:21732365-21732366	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD

Chromatin state (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:21692000-21730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21702200-21735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:21710400-21732000	Strong transcription	Fetal Intestine Large	intestine
5	chr14:21720400-21733600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr14:21720600-21732000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:21720800-21730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21723200-21730600	Genic enhancers	HepG2	liver
9	chr14:21723400-21731000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:21723400-21731800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:21723600-21730600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:21723600-21731600	Genic enhancers	Primary T cells from cord blood	blood
13	chr14:21723800-21733000	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:21723800-21734200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:21724000-21730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:21724000-21733800	Strong transcription	Fetal Stomach	stomach
17	chr14:21724200-21730600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:21724200-21735600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:21725000-21730600	Weak transcription	Right Atrium	heart
20	chr14:21725200-21730600	Weak transcription	Esophagus	oesophagus
21	chr14:21725600-21730600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:21725600-21730600	Genic enhancers	A549	lung
23	chr14:21726000-21733000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:21726200-21730600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:21726200-21730600	Strong transcription	Thymus	Thymus
26	chr14:21726200-21731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:21726200-21733600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:21726400-21730600	Strong transcription	Placenta	Placenta
29	chr14:21726800-21731600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:21726800-21733400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:21727000-21731800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:21727200-21730600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr14:21727400-21731600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:21727400-21731800	Strong transcription	Fetal Thymus	thymus
35	chr14:21727400-21732000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:21727600-21730600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:21727600-21730600	Weak transcription	Aorta	Aorta
38	chr14:21727600-21730600	Strong transcription	Fetal Lung	lung
39	chr14:21727600-21730600	Weak transcription	Right Ventricle	heart
40	chr14:21727600-21730600	Weak transcription	Small Intestine	intestine
41	chr14:21727600-21730600	Strong transcription	HSMM	muscle
42	chr14:21727600-21731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:21727800-21730600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr14:21727800-21731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:21727800-21731800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:21727800-21731800	Weak transcription	Stomach Mucosa	stomach
47	chr14:21728000-21730600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:21728000-21730600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr14:21728000-21730600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:21728600-21730600	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links