Variant report

Variant	nsv521832
Chromosome Location	chr14:68141009-68204876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2180)
CpG islands
(count:1953)
Chromatin interactive
region (count:112)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:68167892-68167906	K562	blood:	n/a	n/a
2	ARID3A	chr14:68171192-68171429	K562	blood:	n/a	n/a
3	ARID3A	chr14:68183714-68184131	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:68161390-68161924	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:68161740-68161869	K562	blood:	n/a	n/a
6	ARID3A	chr14:68182269-68182664	K562	blood:	n/a	n/a
7	ARID3A	chr14:68141549-68141850	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:68165446-68165750	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:68163785-68163895	HepG2	liver:	n/a	n/a
10	ATF1	chr14:68146788-68147190	K562	blood:	n/a	n/a
11	ATF1	chr14:68147692-68147998	K562	blood:	n/a	n/a
12	ATF1	chr14:68161422-68161776	K562	blood:	n/a	n/a
13	ATF2	chr14:68162167-68162626	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr14:68146622-68147282	GM12878	blood:	n/a	n/a
15	ATF2	chr14:68141287-68141763	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr14:68141437-68141948	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr14:68195932-68196328	HepG2	liver:	n/a	n/a
18	ATF3	chr14:68167363-68167625	K562	blood:	n/a	n/a
19	ATF3	chr14:68162417-68162623	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr14:68196040-68196307	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr14:68195879-68196408	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr14:68196037-68196347	K562	blood:	n/a	n/a
23	ATF3	chr14:68146865-68147165	K562	blood:	n/a	n/a
24	ATF3	chr14:68147697-68147953	K562	blood:	n/a	n/a
25	BACH1	chr14:68195990-68196202	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr14:68171189-68171215	K562	blood:	n/a	n/a
27	BATF	chr14:68161316-68161817	GM12878	blood:	n/a	chr14:68161504-68161513
28	BATF	chr14:68146809-68147225	GM12878	blood:	n/a	chr14:68147036-68147047 chr14:68147037-68147047
29	BATF	chr14:68146737-68147374	GM12878	blood:	n/a	chr14:68147036-68147047 chr14:68147037-68147047
30	BATF	chr14:68161319-68161608	GM12878	blood:	n/a	chr14:68161504-68161513
31	BCL11A	chr14:68146890-68147161	GM12878	blood:	n/a	chr14:68146930-68146937 chr14:68147039-68147048
32	BCL11A	chr14:68146807-68147183	GM12878	blood:	n/a	chr14:68146930-68146937 chr14:68147039-68147048
33	BCL3	chr14:68141050-68141916	GM12878	blood:	n/a	n/a
34	BCL3	chr14:68141336-68142623	A549	lung:	n/a	n/a
35	BCL3	chr14:68141084-68142066	A549	lung:	n/a	n/a
36	BCLAF1	chr14:68141248-68141908	GM12878	blood:	n/a	n/a
37	BCLAF1	chr14:68141052-68141941	GM12878	blood:	n/a	n/a
38	BCLAF1	chr14:68161368-68161930	GM12878	blood:	n/a	chr14:68161456-68161465
39	BCLAF1	chr14:68162189-68162629	GM12878	blood:	n/a	n/a
40	BCLAF1	chr14:68146605-68147297	GM12878	blood:	n/a	chr14:68146930-68146937 chr14:68147039-68147048
41	BHLHE40	chr14:68162289-68162616	GM12878	blood:	n/a	n/a
42	BHLHE40	chr14:68171303-68171647	K562	blood:	n/a	n/a
43	BHLHE40	chr14:68141158-68141834	K562	blood:	n/a	n/a
44	BHLHE40	chr14:68146658-68147231	GM12878	blood:	n/a	n/a
45	BHLHE40	chr14:68141384-68141778	GM12878	blood:	n/a	n/a
46	BHLHE40	chr14:68165427-68165749	HepG2	liver:	n/a	n/a
47	BHLHE40	chr14:68141095-68141849	HepG2	liver:	n/a	n/a
48	BHLHE40	chr14:68182601-68182629	K562	blood:	n/a	n/a
49	BHLHE40	chr14:68161488-68162619	HepG2	liver:	n/a	n/a
50	BHLHE40	chr14:68161556-68162049	K562	blood:	n/a	n/a

(count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68162304-68162354	SK-N-SH_RA	brain:	n/a
2	chr14:68162304-68162354	SK-N-SH_RA	brain:	n/a
3	chr14:68141664-68141714	SKMC	muscle:	n/a
4	chr14:68196371-68196421	HCF	heart:	n/a
5	chr14:68142533-68142583	GM06990	blood:	n/a
6	chr14:68162156-68162206	HL-60	blood:	n/a
7	chr14:68168587-68168637	HEEpiC	esophagus:	n/a
8	chr14:68141658-68141708	HCF	heart:	n/a
9	chr14:68141664-68141714	CMK	blood:	n/a
10	chr14:68141669-68141719	Hepatocyte	liver:	n/a
11	chr14:68167893-68167943	HCT-116	colon:	n/a
12	chr14:68140985-68141035	Jurkat	blood:	n/a
13	chr14:68167893-68167943	AG09309	skin:	n/a
14	chr14:68163086-68163136	GM12892	blood:	n/a
15	chr14:68141658-68141708	ovcar-3	ovarian:	n/a
16	chr14:68188663-68188713	PrEC	prostate:	n/a
17	chr14:68141658-68141708	NHBE	bronchial:	n/a
18	chr14:68196371-68196421	ECC-1	luminal epithelium:	n/a
19	chr14:68162304-68162354	AG09319	gingival:	n/a
20	chr14:68188663-68188713	HIPEpiC	eye:	n/a
21	chr14:68196371-68196421	GM12878	blood:	n/a
22	chr14:68171536-68171586	NH-A	brain:	n/a
23	chr14:68171536-68171586	AG10803	skin:	n/a
24	chr14:68201122-68201172	HCT-116	colon:	n/a
25	chr14:68163792-68163842	CMK	blood:	n/a
26	chr14:68162577-68162627	A549	lung:	n/a
27	chr14:68141669-68141719	NHBE	bronchial:	n/a
28	chr14:68141779-68141829	GM19239	blood:	n/a
29	chr14:68163086-68163136	MCF-7	breast:	n/a
30	chr14:68141664-68141714	AG04450	lung:	fetal
31	chr14:68141723-68141773	HPAEpiC	pulmonary alveolar:	n/a
32	chr14:68171536-68171586	AG09319	gingival:	n/a
33	chr14:68141218-68141268	PANC-1	pancreas:	n/a
34	chr14:68162924-68162974	MCF10A-Er-Src	breast:	n/a
35	chr14:68163792-68163842	IMR90	lung:	fetal
36	chr14:68141664-68141714	SK-N-SH	brain:	n/a
37	chr14:68141442-68141492	Hela-S3	cervix:	n/a
38	chr14:68141761-68141811	HCM	heart:	n/a
39	chr14:68142077-68142127	AG10803	skin:	n/a
40	chr14:68188663-68188713	MCF-7	breast:	n/a
41	chr14:68162436-68162486	HL-60	blood:	n/a
42	chr14:68141723-68141773	NT2-D1	testis:	n/a
43	chr14:68141730-68141780	ProgFib	skin:	n/a
44	chr14:68141779-68141829	A549	lung:	n/a
45	chr14:68141761-68141811	HRCEpiC	kidney:	n/a
46	chr14:68201122-68201172	MCF-7	breast:	n/a
47	chr14:68168587-68168637	BJ	skin:	n/a
48	chr14:68162924-68162974	HMEC	breast:	n/a
49	chr14:68162436-68162486	NHBE	bronchial:	n/a
50	chr14:68167893-68167943	BE2_C	brain:	n/a

(count:112 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
2	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
3	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
4	chr14:68151498..68153240-chr14:68153514..68155847,2	MCF-7	breast:
5	chr1:110527148..110527873-chr14:68140978..68141610,2	Hela-S3	cervix:
6	chr14:68150360..68152017-chr14:68159516..68161940,2	K562	blood:
7	chr14:68147451..68151816-chr14:68155082..68158211,3	MCF-7	breast:
8	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
9	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
10	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
11	chr14:68065457..68068095-chr14:68169119..68171833,2	MCF-7	breast:
12	chr11:67889083..67889616-chr14:68161938..68162480,2	Hela-S3	cervix:
13	chr14:68133955..68137188-chr14:68149480..68152660,3	MCF-7	breast:
14	chr14:68143497..68145467-chr14:68232189..68234111,2	MCF-7	breast:
15	chr14:68160495..68162347-chr14:68190470..68192944,2	MCF-7	breast:
16	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
17	chr14:68181892..68184033-chr14:68190366..68192082,2	K562	blood:
18	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
19	chr14:68189527..68192099-chr14:68196390..68198301,2	K562	blood:
20	chr14:68085038..68085996-chr14:68170872..68171824,5	K562	blood:
21	chr14:68134983..68137070-chr14:68155296..68156947,2	MCF-7	breast:
22	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
23	chr14:67993411..67993949-chr14:68170946..68171642,2	MCF-7	breast:
24	chr14:68161515..68162432-chr22:20067352..20067891,2	Hela-S3	cervix:
25	chr11:62314129..62314646-chr14:68161784..68162685,2	Hela-S3	cervix:
26	chr14:68160440..68163119-chr14:68165431..68167852,3	K562	blood:
27	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
28	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
29	chr14:68189219..68191314-chr14:68202180..68203720,2	MCF-7	breast:
30	chr14:68049889..68051990-chr14:68169863..68172640,4	MCF-7	breast:
31	chr12:46122051..46122776-chr14:68161548..68162255,2	Hela-S3	cervix:
32	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
33	chr14:68143928..68146779-chr14:68151837..68154556,3	K562	blood:
34	chr14:68086139..68088199-chr14:68146994..68148776,2	K562	blood:
35	chr14:68083632..68084176-chr14:68170942..68171834,2	K562	blood:
36	chr14:68193596..68197336-chr14:68281825..68284541,3	MCF-7	breast:
37	chr1:149856880..149859057-chr14:68139799..68142421,2	MCF-7	breast:
38	chr14:68161698..68162539-chr9:100818894..100819880,2	Hela-S3	cervix:
39	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
40	chr14:68073926..68076120-chr14:68169505..68171234,2	MCF-7	breast:
41	chr14:68143928..68146779-chr14:68151837..68154515,2	K562	blood:
42	chr14:68044795..68046868-chr14:68146625..68149347,2	K562	blood:
43	chr14:68085669..68088034-chr14:68144833..68146828,2	K562	blood:
44	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:
45	chr14:67825002..67827453-chr14:68141571..68143576,2	K562	blood:
46	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
47	chr14:68190643..68193563-chr14:68204307..68206104,2	K562	blood:
48	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
49	chr14:68139314..68147611-chr14:68148827..68154391,14	MCF-7	breast:
50	chr14:68085030..68085991-chr14:68170815..68171645,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARG2-8	chr14:68181262-68181422	NONHSAT037467
2	lnc-RDH11-1	chr14:68163551-68163820	l_1003_chr14:68163550-68164952_brain
3	lnc-RDH11-1	chr14:68164822-68165004	l_1003_chr14:68163550-68164952_brain
4	lnc-ARG2-8	chr14:68181609-68181921	NONHSAT037467
5	lnc-ARG2-7	chr14:68172671-68172972	NONHSAT037466
6	lnc-VTI1B-1	chr14:68148425-68148434	NONHSAT037464
7	lnc-VTI1B-1	chr14:68148473-68151133	NONHSAT037464

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RDH11	hsa-miR-196a-5p	chr14:68144738-68144759
2	RDH11	hsa-miR-590-3p	chr14:68143587-68143607
3	RDH11	hsa-miR-183-5p	chr14:68143937-68143958
4	RDH11	hsa-miR-21-5p	chr14:68143704-68143725
5	RDH11	hsa-miR-183-5p	chr14:68144393-68144414
6	RDH11	hsa-miR-130b-3p	chr14:68143722-68143743

Variant related genes	Relation type
RPL21P9	TF binding region
RDH12	TF binding region
RN7SL369P	TF binding region
VTI1B	TF binding region
ENSG00000258466	TF binding region
ENSG00000271697	TF binding region
RDH11	TF binding region
RPL21P9	CpG island
RDH12	CpG island
RN7SL369P	CpG island
VTI1B	CpG island
ENSG00000258466	CpG island
ENSG00000271697	CpG island
RDH11	CpG island
ENSG00000198133	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000100564	chromatin interactions
ENSG00000271697	chromatin interactions
ENSG00000136942	chromatin interactions
ENSG00000072042	chromatin interactions
ENSG00000247240	chromatin interactions
ENSG00000139988	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000260916	chromatin interactions
ENSG00000128191	chromatin interactions
ENSG00000081181	chromatin interactions
ENSG00000134001	chromatin interactions
ENSG00000241542	chromatin interactions
ENSG00000168710	chromatin interactions
ENSG00000100568	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000259648	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000258466	chromatin interactions
ENSG00000201529	chromatin interactions
ENSG00000054690	chromatin interactions
ENSG00000072121	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000255236	chromatin interactions
ENSG00000100554	chromatin interactions
ENSG00000272253	chromatin interactions
ENSG00000108064	chromatin interactions

Extended variants
information (count: 2337 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2337 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2234512	chr14:68141009-68141010	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533637045	chr14:68141028-68141029	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs2234511	chr14:68141029-68141030	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576878941	chr14:68141041-68141042	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs371119471	chr14:68141075-68141076	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs544240665	chr14:68141080-68141081	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs531152724	chr14:68141095-68141096	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs574647581	chr14:68141096-68141097	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs2234510	chr14:68141105-68141106	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377455078	chr14:68141166-68141167	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs371149132	chr14:68141218-68141219	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs564495908	chr14:68141232-68141233	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs527513430	chr14:68141267-68141268	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs2234509	chr14:68141272-68141273	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191925153	chr14:68141292-68141293	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs113387865	chr14:68141297-68141298	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs531560241	chr14:68141351-68141352	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs543212172	chr14:68141373-68141374	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs568488564	chr14:68141409-68141410	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs535765835	chr14:68141481-68141482	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs548105473	chr14:68141485-68141486	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs566121146	chr14:68141511-68141512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs374852806	chr14:68141522-68141523	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs558650685	chr14:68141534-68141535	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs2234508	chr14:68141549-68141550	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537793443	chr14:68141625-68141626	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs2234507	chr14:68141638-68141639	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs2234506	chr14:68141712-68141713	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547414090	chr14:68141745-68141746	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs554061708	chr14:68141762-68141763	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs572114409	chr14:68141771-68141772	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs2234505	chr14:68141774-68141775	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs76579703	chr14:68141820-68141821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs2234504	chr14:68141840-68141841	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs543550818	chr14:68141886-68141887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs561919692	chr14:68141891-68141892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs529316471	chr14:68141908-68141909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs547747335	chr14:68141930-68141931	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs2234503	chr14:68141941-68141942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192368388	chr14:68141958-68141959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs533524192	chr14:68141960-68141961	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs369250086	chr14:68141974-68141975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs565527694	chr14:68141993-68141994	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs533619484	chr14:68141996-68141997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs149608985	chr14:68141998-68141999	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs2234502	chr14:68142118-68142119	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs532895834	chr14:68142150-68142151	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs376832253	chr14:68142189-68142190	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs113921386	chr14:68142213-68142214	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs535640479	chr14:68142280-68142281	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1883 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68139600-68142000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:68139600-68142400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:68139600-68142400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:68139600-68142400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:68139600-68142600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:68139600-68142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:68139800-68141800	Active TSS	Hela-S3	cervix
8	chr14:68139800-68142200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68139800-68142200	Active TSS	Ovary	ovary
10	chr14:68139800-68142200	Active TSS	NHDF-Ad	bronchial
11	chr14:68139800-68142600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:68140000-68142000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:68140000-68142200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:68140000-68142200	Active TSS	Right Atrium	heart
15	chr14:68140200-68142000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:68140200-68142000	Active TSS	Right Ventricle	heart
17	chr14:68140200-68142200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:68140200-68142200	Active TSS	HSMM	muscle
19	chr14:68140200-68142200	Active TSS	NHLF	lung
20	chr14:68140200-68142400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr14:68140200-68142400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:68140200-68142400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:68140200-68142400	Active TSS	A549	lung
24	chr14:68140400-68141800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr14:68140400-68142000	Active TSS	Aorta	Aorta
26	chr14:68140400-68142000	Active TSS	Esophagus	oesophagus
27	chr14:68140400-68142000	Active TSS	Fetal Intestine Large	intestine
28	chr14:68140400-68142000	Active TSS	Fetal Muscle Trunk	muscle
29	chr14:68140400-68142000	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:68140400-68142000	Active TSS	Small Intestine	intestine
31	chr14:68140400-68142000	Active TSS	K562	blood
32	chr14:68140400-68142200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:68140400-68142200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:68140400-68142200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:68140400-68142200	Active TSS	Fetal Kidney	kidney
36	chr14:68140400-68142200	Active TSS	Left Ventricle	heart
37	chr14:68140400-68142400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr14:68140400-68142400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68140400-68142400	Active TSS	Gastric	stomach
40	chr14:68140400-68142600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:68140600-68141800	Active TSS	Fetal Muscle Leg	muscle
42	chr14:68140600-68141800	Active TSS	Placenta	Placenta
43	chr14:68140600-68141800	Active TSS	Lung	lung
44	chr14:68140600-68141800	Bivalent/Poised TSS	HepG2	liver
45	chr14:68140600-68142000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:68140600-68142000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:68140600-68142000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:68140600-68142000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:68140600-68142000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:68140600-68142000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links