Variant report

Variant	esv2755473
Chromosome Location	chr14:66962747-67177647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2156)
CpG islands
(count:1161)
Chromatin interactive
region (count:74)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2156 , 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	chr14:66962189-66962849	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:67091021-67091430	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:66974467-66974983	HepG2	liver:	n/a	n/a
4	ATF2	chr14:67117111-67117794	GM12878	blood:	n/a	n/a
5	ATF2	chr14:67068624-67069317	GM12878	blood:	n/a	n/a
6	ATF2	chr14:66974402-66975178	GM12878	blood:	n/a	n/a
7	ATF2	chr14:66974420-66974930	GM12878	blood:	n/a	n/a
8	ATF2	chr14:67116077-67116922	GM12878	blood:	n/a	n/a
9	ATF2	chr14:67068645-67069233	GM12878	blood:	n/a	n/a
10	ATF2	chr14:67117239-67117647	GM12878	blood:	n/a	n/a
11	ATF2	chr14:66975470-66976275	GM12878	blood:	n/a	n/a
12	ATF2	chr14:67116096-67116807	GM12878	blood:	n/a	n/a
13	BACH1	chr14:67119428-67119712	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr14:66974040-66975236	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr14:66975534-66975633	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr14:67116255-67116675	GM12878	blood:	n/a	chr14:67116456-67116467
17	BATF	chr14:67068644-67069039	GM12878	blood:	n/a	n/a
18	BATF	chr14:67068665-67068988	GM12878	blood:	n/a	n/a
19	BATF	chr14:67117185-67117684	GM12878	blood:	n/a	n/a
20	BATF	chr14:67116154-67116829	GM12878	blood:	n/a	chr14:67116456-67116467
21	BATF	chr14:67117290-67117681	GM12878	blood:	n/a	n/a
22	BCL11A	chr14:67117264-67117683	GM12878	blood:	n/a	n/a
23	BCL11A	chr14:66975710-66975903	GM12878	blood:	n/a	chr14:66975714-66975723
24	BCL11A	chr14:67117318-67117695	GM12878	blood:	n/a	n/a
25	BCL11A	chr14:67116200-67116728	GM12878	blood:	n/a	n/a
26	BCL11A	chr14:67116318-67116671	GM12878	blood:	n/a	n/a
27	BCL3	chr14:66975506-66975904	GM12878	blood:	n/a	chr14:66975714-66975723
28	BCL3	chr14:66973991-66974624	A549	lung:	n/a	n/a
29	BCL3	chr14:66974699-66975153	A549	lung:	n/a	n/a
30	BCLAF1	chr14:66973945-66975186	GM12878	blood:	n/a	n/a
31	BCLAF1	chr14:67091133-67091461	GM12878	blood:	n/a	n/a
32	BCLAF1	chr14:67116159-67116686	GM12878	blood:	n/a	n/a
33	BCLAF1	chr14:67116140-67116764	GM12878	blood:	n/a	n/a
34	BCLAF1	chr14:67091013-67091450	GM12878	blood:	n/a	n/a
35	BCLAF1	chr14:66974095-66975086	GM12878	blood:	n/a	n/a
36	BCLAF1	chr14:66975385-66976000	GM12878	blood:	n/a	chr14:66975714-66975723
37	BCLAF1	chr14:67117133-67117735	GM12878	blood:	n/a	n/a
38	BHLHE40	chr14:67091063-67091331	GM12878	blood:	n/a	n/a
39	BHLHE40	chr14:67068826-67069299	GM12878	blood:	n/a	n/a
40	BHLHE40	chr14:66974027-66975385	HepG2	liver:	n/a	chr14:66974231-66974244
41	BHLHE40	chr14:66968421-66968741	HepG2	liver:	n/a	n/a
42	BHLHE40	chr14:66973972-66975410	K562	blood:	n/a	chr14:66974231-66974244
43	BHLHE40	chr14:67116253-67116731	GM12878	blood:	n/a	n/a
44	BHLHE40	chr14:66981162-66981258	GM12878	blood:	n/a	n/a
45	BHLHE40	chr14:66974071-66974799	A549	lung:	n/a	chr14:66974231-66974244
46	BHLHE40	chr14:66973863-66976828	GM12878	blood:	n/a	chr14:66974231-66974244 chr14:66975578-66975594
47	BHLHE40	chr14:67117398-67117639	GM12878	blood:	n/a	n/a
48	BRCA1	chr14:66975607-66975815	GM12878	blood:	n/a	n/a
49	BRCA1	chr14:66974447-66975068	GM12878	blood:	n/a	n/a
50	BRCA1	chr14:66974310-66975359	Hela-S3	cervix:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:66972956-66973006	PANC-1	pancreas:	n/a
2	chr14:66974032-66974082	AG04450	lung:	fetal
3	chr14:66972956-66973006	PANC-1	pancreas:	n/a
4	chr14:66974032-66974082	AG04450	lung:	fetal
5	chr14:66963628-66963678	SKMC	muscle:	n/a
6	chr14:67061310-67061360	LNCaP	prostate:	n/a
7	chr14:66975372-66975422	AoSMC	blood vessel:	n/a
8	chr14:66974904-66974954	PFSK-1	brain:	n/a
9	chr14:66970921-66970971	MCF10A-Er-Src	breast:	n/a
10	chr14:67012668-67012718	HL-60	blood:	n/a
11	chr14:66974051-66974101	HEK293	kidney:	embryo
12	chr14:66976276-66976326	HCM	heart:	n/a
13	chr14:66975296-66975346	Hepatocyte	liver:	n/a
14	chr14:66976276-66976326	GM19239	blood:	n/a
15	chr14:66976276-66976326	Jurkat	blood:	n/a
16	chr14:66976062-66976112	Hela-S3	cervix:	n/a
17	chr14:66970921-66970971	K562	blood:	n/a
18	chr14:66975372-66975422	HAEpiC	amniotic membrane:	n/a
19	chr14:66974634-66974684	SKMC	muscle:	n/a
20	chr14:66972956-66973006	Hela-S3	cervix:	n/a
21	chr14:66974051-66974101	SK-N-SH_RA	brain:	n/a
22	chr14:66980127-66980177	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:66974051-66974101	GM12891	blood:	n/a
24	chr14:66974904-66974954	SK-N-MC	brain:	n/a
25	chr14:67012668-67012718	HEK293	kidney:	embryo
26	chr14:66975296-66975346	AG09309	skin:	n/a
27	chr14:66975296-66975346	HNPCEpiC	eye:	n/a
28	chr14:66974439-66974489	PFSK-1	brain:	n/a
29	chr14:66974622-66974672	NHBE	bronchial:	n/a
30	chr14:66976276-66976326	HRE	kidney:	n/a
31	chr14:66970921-66970971	PFSK-1	brain:	n/a
32	chr14:67061310-67061360	HIPEpiC	eye:	n/a
33	chr14:66976276-66976326	PFSK-1	brain:	n/a
34	chr14:66970921-66970971	GM06990	blood:	n/a
35	chr14:66974622-66974672	SK-N-SH	brain:	n/a
36	chr14:66973361-66973411	HRE	kidney:	n/a
37	chr14:66975372-66975422	U87	brain:	n/a
38	chr14:66975599-66975649	GM19239	blood:	n/a
39	chr14:66970921-66970971	HIPEpiC	eye:	n/a
40	chr14:66974051-66974101	AG10803	skin:	n/a
41	chr14:66972956-66973006	HCPEpiC	choroid plexus:	n/a
42	chr14:66975372-66975422	IMR90	lung:	fetal
43	chr14:66974439-66974489	Hela-S3	cervix:	n/a
44	chr14:66974622-66974672	A549	lung:	n/a
45	chr14:67061310-67061360	HRCEpiC	kidney:	n/a
46	chr14:66974163-66974213	PFSK-1	brain:	n/a
47	chr14:66974622-66974672	MCF-7	breast:	n/a
48	chr14:66974622-66974672	HMEC	breast:	n/a
49	chr14:66974634-66974684	NHDF-neo	bronchial:	n/a
50	chr14:67061310-67061360	Hela-S3	cervix:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
2	chr14:66974791..66976543-chr14:66986687..66988455,2	MCF-7	breast:
3	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:
4	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
5	chr14:66962757..66964440-chr14:66964535..66967459,2	MCF-7	breast:
6	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
7	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:
8	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
9	chr14:66964607..66966300-chr14:66974404..66976392,2	K562	blood:
10	chr14:66974580..66976543-chr14:66983199..66985930,3	MCF-7	breast:
11	chr14:66951555..66953537-chr14:66974010..66975700,2	MCF-7	breast:
12	chr14:66967687..66969685-chr14:66973710..66975449,2	K562	blood:
13	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
14	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
15	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
16	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:
17	chr14:66973828..66976621-chr14:66983168..66986678,3	MCF-7	breast:
18	chr14:66962164..66962780-chr14:67602828..67603411,2	MCF-7	breast:
19	chr14:66974095..66974742-chr8:25316233..25316850,2	HCT-116	colon:
20	chr14:66960572..66962463-chr14:66966827..66968596,2	MCF-7	breast:
21	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:
22	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
23	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
24	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
25	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
26	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
27	chr14:66970387..66972229-chr14:66974390..66976391,2	MCF-7	breast:
28	chr14:67013560..67014177-chr16:87123245..87123883,2	MCF-7	breast:
29	chr14:66975009..66976777-chr14:67006452..67008690,2	MCF-7	breast:
30	chr14:67044325..67045049-chr8:77423954..77424779,2	MCF-7	breast:
31	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
32	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
33	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
34	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
35	chr1:111745353..111747736-chr14:66972613..66974748,2	MCF-7	breast:
36	chr14:66974269..66975110-chr20:44044322..44045146,2	Hela-S3	cervix:
37	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
38	chr14:66974013..66974724-chr17:45928105..45928845,2	HCT-116	colon:
39	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
40	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
41	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
42	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
43	chr14:66974471..66975149-chr20:60961822..60962468,2	Hela-S3	cervix:
44	chr14:66867904..66868628-chr14:67128968..67129850,2	MCF-7	breast:
45	chr14:66972704..66976384-chr14:67000982..67004211,4	MCF-7	breast:
46	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:
47	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
48	chr14:66974018..66977412-chr14:66988835..66991120,3	MCF-7	breast:
49	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:
50	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-1	chr14:66964827-66964885	NR_024339
2	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
3	lnc-GPHN-1	chr14:66965071-66965270	ENSG00000196553
4	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
5	lnc-CTD-2014B16.3.1-2	chr14:66962916-66963060	ENSG00000258561
6	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
7	lnc-CTD-2014B16.3.1-2	chr14:66971593-66971708	ENSG00000258561
8	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
9	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
10	lnc-GPHN-1	chr14:66964827-66964885	NR_024338
11	lnc-GPHN-1	chr14:66965071-66965271	ENSG00000196553
12	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
13	lnc-GPHN-1	chr14:66963545-66963585	NR_024338
14	lnc-CTD-2014B16.3.1-5	chr14:66983554-66984402	ucscGeneNc_uc001xji_1
15	lnc-GPHN-1	chr14:66963401-66963585	ENSG00000196553
16	lnc-GPHN-1	chr14:66963545-66963585	NR_110307
17	lnc-GPHN-1	chr14:66965071-66965271	ENSG00000196553
18	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963043	ENSG00000258561
19	lnc-GPHN-1	chr14:66965071-66965265	NONHSAT037423
20	lnc-GPHN-1	chr14:66964827-66964885	NR_110307
21	lnc-GPHN-1	chr14:66965071-66965118	ENSG00000196553
22	lnc-GPHN-1	chr14:66963545-66963585	NONHSAT037423
23	lnc-GPHN-1	chr14:66965071-66965271	NR_024338
24	lnc-GPHN-1	chr14:66965071-66965271	NR_110307
25	lnc-CTD-2014B16.3.1-2	chr14:66962980-66963052	ENSG00000258561
26	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
27	lnc-CTD-2014B16.3.1-2	chr14:66975792-66976112	ENSG00000258561
28	lnc-GPHN-1	chr14:66965071-66965270	ENSG00000196553
29	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
30	lnc-GPHN-1	chr14:66963545-66963585	NR_024339
31	lnc-GPHN-1	chr14:66964827-66964885	NONHSAT037423
32	lnc-GPHN-1	chr14:66965071-66965271	NR_024339
33	lnc-CTD-2014B16.3.1-2	chr14:66972003-66972063	ENSG00000258561

No data

Variant related genes	Relation type
GPHN	TF binding region
ENSG00000258561	TF binding region
LINC00238	TF binding region
GPHN	CpG island
ENSG00000258561	CpG island
LINC00238	CpG island
ENSG00000099331	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000182004	chromatin interactions
ENSG00000184661	chromatin interactions
ENSG00000131351	chromatin interactions
ENSG00000189120	chromatin interactions
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions
ENSG00000196553	chromatin interactions
ENSG00000124155	chromatin interactions
ENSG00000162777	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000120875	chromatin interactions

Extended variants
information (count: 8351 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:8351 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572629941	chr14:66962751-66962752	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs6573679	chr14:66962757-66962758	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs150602314	chr14:66962787-66962788	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192664760	chr14:66962822-66962823	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76455155	chr14:66962918-66962919	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs374346946	chr14:66962950-66962951	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs17103564	chr14:66962972-66962973	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577381520	chr14:66962983-66962984	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs567140683	chr14:66962993-66962994	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs559964961	chr14:66962998-66962999	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs528048416	chr14:66963009-66963010	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs546278897	chr14:66963019-66963020	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs571291097	chr14:66963025-66963026	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs528644237	chr14:66963036-66963037	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs538368225	chr14:66963066-66963067	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571123745	chr14:66963080-66963081	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542334128	chr14:66963085-66963086	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550778507	chr14:66963118-66963119	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562075127	chr14:66963163-66963164	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370530141	chr14:66963172-66963173	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530889671	chr14:66963208-66963209	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs144559756	chr14:66963238-66963239	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550624918	chr14:66963240-66963241	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs3737160	chr14:66963249-66963250	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs139333955	chr14:66963401-66963402	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs546433256	chr14:66963500-66963501	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs144089663	chr14:66963527-66963528	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs535184046	chr14:66963558-66963559	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs554996419	chr14:66963590-66963591	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146466118	chr14:66963596-66963597	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116904225	chr14:66963624-66963625	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139864604	chr14:66963628-66963629	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577494841	chr14:66963656-66963657	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs3818771	chr14:66963679-66963680	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114316014	chr14:66963714-66963715	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs151132927	chr14:66963750-66963751	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183321529	chr14:66963793-66963794	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187612072	chr14:66963822-66963823	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373383980	chr14:66963843-66963844	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376618483	chr14:66963846-66963847	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs192250280	chr14:66963869-66963870	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185045682	chr14:66963875-66963876	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533296381	chr14:66963899-66963900	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539700730	chr14:66963947-66963948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189894660	chr14:66963952-66963953	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7159796	chr14:66964017-66964018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs192543435	chr14:66964020-66964021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370743967	chr14:66964033-66964034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548683546	chr14:66964062-66964063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577254497	chr14:66964077-66964078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:1389 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66950400-66962800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:66952200-66973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:66954400-66970200	Weak transcription	Gastric	stomach
4	chr14:66958600-66965600	Weak transcription	Small Intestine	intestine
5	chr14:66962000-66963400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:66962000-66964600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:66962200-66963000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:66962200-66963800	Enhancers	Dnd41	blood
9	chr14:66962200-66964000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:66962200-66964000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:66962400-66962800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:66962400-66962800	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:66962400-66962800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:66962400-66962800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:66962400-66962800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr14:66962400-66962800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr14:66962400-66962800	Active TSS	Aorta	Aorta
18	chr14:66962400-66962800	Active TSS	Brain Angular Gyrus	brain
19	chr14:66962400-66962800	Active TSS	Brain Cingulate Gyrus	brain
20	chr14:66962400-66962800	Active TSS	Brain Hippocampus Middle	brain
21	chr14:66962400-66962800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:66962400-66962800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr14:66962400-66962800	Active TSS	Colon Smooth Muscle	Colon
24	chr14:66962400-66962800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:66962400-66962800	Active TSS	HepG2	liver
26	chr14:66962400-66962800	Active TSS	Osteobl	bone
27	chr14:66962400-66963000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:66962400-66963000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:66962400-66963000	Active TSS	Brain Anterior Caudate	brain
30	chr14:66962400-66963000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:66962400-66963000	Enhancers	K562	blood
32	chr14:66962400-66963200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:66962400-66963200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:66962400-66963200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr14:66962400-66963200	Flanking Active TSS	NHEK	skin
36	chr14:66962400-66963400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:66962400-66963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:66962400-66963800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr14:66962400-66964000	Flanking Active TSS	Liver	Liver
40	chr14:66962400-66964400	Enhancers	Primary T cells from cord blood	blood
41	chr14:66962600-66962800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:66962600-66962800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:66962600-66962800	Flanking Active TSS	A549	lung
44	chr14:66962600-66963000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:66962600-66963000	Enhancers	Fetal Heart	heart
46	chr14:66962600-66963000	Active TSS	Right Atrium	heart
47	chr14:66962600-66963200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr14:66962600-66963200	Flanking Active TSS	HMEC	breast
49	chr14:66962600-66963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:66962600-66963400	Enhancers	GM12878-XiMat	blood

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