Variant report

Variant	nsv566187
Chromosome Location	chr14:105756485-105780704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:940)
CpG islands
(count:1528)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105767190-105767604	HepG2	liver:	n/a	n/a
2	ATF3	chr14:105780701-105780901	K562	blood:	n/a	n/a
3	BACH1	chr14:105766424-105767645	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr14:105766850-105767395	GM12878	blood:	n/a	n/a
5	BHLHE40	chr14:105766831-105767705	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:105767853-105768215	K562	blood:	n/a	n/a
7	BHLHE40	chr14:105767201-105767636	K562	blood:	n/a	n/a
8	BHLHE40	chr14:105757536-105757653	K562	blood:	n/a	n/a
9	BHLHE40	chr14:105766686-105767711	HepG2	liver:	n/a	chr14:105766760-105766776
10	BHLHE40	chr14:105767913-105768111	GM12878	blood:	n/a	n/a
11	BHLHE40	chr14:105759635-105759851	GM12878	blood:	n/a	n/a
12	BHLHE40	chr14:105757131-105757351	GM12878	blood:	n/a	n/a
13	BRCA1	chr14:105766843-105767916	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr14:105766891-105767298	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr14:105766891-105767649	GM12878	blood:	n/a	n/a
16	BRCA1	chr14:105766891-105767604	HepG2	liver:	n/a	n/a
17	CBX3	chr14:105767897-105768155	K562	blood:	n/a	n/a
18	CBX3	chr14:105767136-105767735	K562	blood:	n/a	n/a
19	CBX3	chr14:105765911-105766270	K562	blood:	n/a	n/a
20	CBX3	chr14:105770918-105771270	K562	blood:	n/a	n/a
21	CBX3	chr14:105765920-105766209	K562	blood:	n/a	n/a
22	CCNT2	chr14:105780628-105781015	K562	blood:	n/a	n/a
23	CCNT2	chr14:105766686-105768120	K562	blood:	n/a	chr14:105767659-105767668
24	CEBPB	chr14:105767004-105767243	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:105764715-105764938	HepG2	liver:	n/a	n/a
26	CEBPB	chr14:105758265-105758342	A549	lung:	n/a	n/a
27	CEBPB	chr14:105756881-105757099	IMR90	lung:	n/a	chr14:105756938-105756951 chr14:105756977-105756988
28	CEBPB	chr14:105773598-105773756	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr14:105756814-105757113	HepG2	liver:	n/a	chr14:105756938-105756951 chr14:105756977-105756988
30	CEBPB	chr14:105756826-105757087	Hela-S3	cervix:	n/a	chr14:105756938-105756951 chr14:105756977-105756988
31	CEBPB	chr14:105767925-105768011	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr14:105756851-105757091	A549	lung:	n/a	chr14:105756938-105756951 chr14:105756977-105756988
33	CEBPB	chr14:105758264-105758331	IMR90	lung:	n/a	n/a
34	CEBPD	chr14:105767696-105767995	HepG2	liver:	n/a	n/a
35	CEBPD	chr14:105767067-105768002	HepG2	liver:	n/a	n/a
36	CEBPD	chr14:105780640-105780906	HepG2	liver:	n/a	n/a
37	CHD1	chr14:105759706-105759795	GM12878	blood:	n/a	n/a
38	CHD1	chr14:105766745-105767279	GM12878	blood:	n/a	n/a
39	CHD2	chr14:105766846-105767883	GM12878	blood:	n/a	n/a
40	CHD2	chr14:105780621-105781022	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr14:105766829-105767941	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr14:105766568-105766594	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr14:105780426-105780462	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr14:105778308-105778412	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr14:105760553-105760925	GM12878	blood:	n/a	n/a
46	CHD2	chr14:105767934-105767980	K562	blood:	n/a	n/a
47	CHD2	chr14:105766863-105767699	HepG2	liver:	n/a	n/a
48	CHD2	chr14:105759617-105759913	GM12878	blood:	n/a	n/a
49	CHD2	chr14:105766674-105767676	K562	blood:	n/a	n/a
50	CHD2	chr14:105766730-105768109	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105780431-105780481	SK-N-SH_RA	brain:	n/a
2	chr14:105766346-105766396	AG04449	skin:	fetal
3	chr14:105780420-105780470	HAEpiC	amniotic membrane:	n/a
4	chr14:105780431-105780481	SK-N-SH_RA	brain:	n/a
5	chr14:105766346-105766396	AG04449	skin:	fetal
6	chr14:105780420-105780470	HAEpiC	amniotic membrane:	n/a
7	chr14:105779952-105780002	GM12892	blood:	n/a
8	chr14:105767882-105767932	GM12892	blood:	n/a
9	chr14:105780431-105780481	AG09309	skin:	n/a
10	chr14:105766346-105766396	HRPEpiC	eye:	n/a
11	chr14:105780431-105780481	Jurkat	blood:	n/a
12	chr14:105767409-105767459	SK-N-SH	brain:	n/a
13	chr14:105767639-105767689	HEK293	kidney:	embryo
14	chr14:105768109-105768159	GM19239	blood:	n/a
15	chr14:105780340-105780390	HRCEpiC	kidney:	n/a
16	chr14:105768109-105768159	RPTEC	kidney:	n/a
17	chr14:105779826-105779876	AG04449	skin:	fetal
18	chr14:105766346-105766396	PFSK-1	brain:	n/a
19	chr14:105771879-105771929	H1-hESC	embryonic stem cell:	embryo
20	chr14:105767639-105767689	MCF10A-Er-Src	breast:	n/a
21	chr14:105779794-105779844	AG04450	lung:	fetal
22	chr14:105767409-105767459	A549	lung:	n/a
23	chr14:105768109-105768159	BJ	skin:	n/a
24	chr14:105779952-105780002	K562	blood:	n/a
25	chr14:105767366-105767416	ECC-1	luminal epithelium:	n/a
26	chr14:105778041-105778091	MCF-7	breast:	n/a
27	chr14:105780431-105780481	T-47D	breast:	n/a
28	chr14:105779952-105780002	AG10803	skin:	n/a
29	chr14:105780420-105780470	HRPEpiC	eye:	n/a
30	chr14:105779952-105780002	BJ	skin:	n/a
31	chr14:105767520-105767570	AG09309	skin:	n/a
32	chr14:105767409-105767459	H1-hESC	embryonic stem cell:	embryo
33	chr14:105768109-105768159	BE2_C	brain:	n/a
34	chr14:105767639-105767689	MCF-7	breast:	n/a
35	chr14:105780420-105780470	HMEC	breast:	n/a
36	chr14:105780431-105780481	PrEC	prostate:	n/a
37	chr14:105766991-105767041	HMEC	breast:	n/a
38	chr14:105767520-105767570	NT2-D1	testis:	n/a
39	chr14:105767882-105767932	BJ	skin:	n/a
40	chr14:105766987-105767037	SK-N-MC	brain:	n/a
41	chr14:105767457-105767507	AG09319	gingival:	n/a
42	chr14:105780420-105780470	NH-A	brain:	n/a
43	chr14:105766991-105767041	SKMC	muscle:	n/a
44	chr14:105767639-105767689	SK-N-SH_RA	brain:	n/a
45	chr14:105766987-105767037	T-47D	breast:	n/a
46	chr14:105780695-105780745	ECC-1	luminal epithelium:	n/a
47	chr14:105767520-105767570	SK-N-SH	brain:	n/a
48	chr14:105780340-105780390	SK-N-SH_RA	brain:	n/a
49	chr14:105778041-105778091	HUVEC	blood vessel:	n/a
50	chr14:105767457-105767507	Hepatocyte	liver:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105760458..105762689-chr14:105764878..105766519,2	K562	blood:
2	chr14:105713902..105716022-chr14:105768956..105770763,2	MCF-7	breast:
3	chr14:105757386..105760349-chr14:105763067..105764806,2	K562	blood:
4	chr14:105757651..105762678-chr14:105764586..105768491,12	MCF-7	breast:
5	chr14:105772730..105775550-chr14:105777915..105781526,4	K562	blood:
6	chr14:105766490..105767158-chr17:41465540..41466173,2	Hela-S3	cervix:
7	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
8	chr14:105756229..105757890-chr14:105761420..105763403,3	MCF-7	breast:
9	chr14:105772029..105773588-chr14:105805773..105807669,2	MCF-7	breast:
10	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
11	chr14:105753212..105757197-chr14:105757375..105761720,4	MCF-7	breast:
12	chr1:144533618..144534203-chr14:105766994..105767831,2	Hela-S3	cervix:
13	chr14:105754932..105761514-chr14:105765400..105769480,11	MCF-7	breast:
14	chr14:105753212..105757197-chr14:105757375..105761720,4	MCF-7	breast:
15	chr14:105752514..105755267-chr14:105755916..105759509,5	MCF-7	breast:
16	chr14:105776327..105778746-chr14:105779695..105781652,2	K562	blood:
17	chr14:105766401..105768254-chr14:105864654..105866501,3	MCF-7	breast:
18	chr14:105756870..105758538-chr14:105766184..105768579,3	K562	blood:
19	chr14:105760346..105763194-chr14:105779950..105781729,2	MCF-7	breast:
20	chr14:105756229..105757890-chr14:105761420..105763403,3	MCF-7	breast:
21	chr14:105765347..105769263-chr14:105769470..105773685,4	K562	blood:
22	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:
23	chr14:105757386..105760349-chr14:105763067..105764806,2	K562	blood:
24	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:
25	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
26	chr14:105764841..105767262-chr14:105768886..105771341,2	MCF-7	breast:
27	chr14:105760458..105762689-chr14:105764878..105766519,2	K562	blood:
28	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:
29	chr14:105778405..105782273-chr14:105864844..105868439,3	K562	blood:
30	chr14:105766778..105767468-chr16:88717407..88718073,2	Hela-S3	cervix:
31	chr14:23540375..23540895-chr14:105767305..105768183,2	HCT-116	colon:
32	chr14:105647226..105648734-chr14:105780236..105782314,2	MCF-7	breast:
33	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
34	chr14:105765347..105769450-chr14:105769470..105773842,3	K562	blood:
35	chr14:105764803..105767774-chr14:105775791..105777351,2	K562	blood:
36	chr14:105766164..105768024-chr14:105938486..105941026,2	MCF-7	breast:
37	chr14:105766350..105771356-chr14:105955110..105959126,6	MCF-7	breast:
38	chr14:105768384..105770510-chr14:105839259..105840826,2	MCF-7	breast:
39	chr14:105744465..105746364-chr14:105757622..105759323,2	K562	blood:
40	chr14:105761699..105764164-chr14:105811215..105812836,2	MCF-7	breast:
41	chr14:105779526..105781902-chr14:105955293..105957927,2	MCF-7	breast:
42	chr14:105770409..105772942-chr14:105807785..105809717,2	MCF-7	breast:
43	chr14:105755787..105757404-chr14:105766249..105769008,2	MCF-7	breast:
44	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
45	chr14:105632643..105634203-chr14:105776322..105778030,2	K562	blood:
46	chr14:105647019..105649589-chr14:105780411..105782070,2	MCF-7	breast:
47	chr14:105767766..105768456-chr14:105800435..105801361,2	MCF-7	breast:

No data

Variant related genes	Relation type
PACS2	TF binding region
BRF1	TF binding region
PACS2	CpG island
BRF1	CpG island
ENSG00000179627	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000100813	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000257341	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000183828	chromatin interactions
ENSG00000257622	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000051523	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000182809	chromatin interactions
ENSG00000179364	chromatin interactions

Extended variants
information (count: 878 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8022526	chr14:105756485-105756486	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371405131	chr14:105756576-105756577	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182358855	chr14:105756584-105756585	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138843719	chr14:105756616-105756617	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs587654253	chr14:105756631-105756632	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs587713568	chr14:105756662-105756663	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187733149	chr14:105756689-105756690	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587643183	chr14:105756705-105756706	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71403266	chr14:105756735-105756736	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192638149	chr14:105756812-105756813	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs587758969	chr14:105756827-105756828	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184254957	chr14:105756834-105756835	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11625098	chr14:105756891-105756892	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs587599713	chr14:105756899-105756900	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs587654840	chr14:105756904-105756905	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142796567	chr14:105756910-105756911	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373684072	chr14:105756926-105756927	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs587610674	chr14:105756934-105756935	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs56263609	chr14:105756944-105756945	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs587747445	chr14:105756993-105756994	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147391043	chr14:105757003-105757004	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs137978388	chr14:105757007-105757008	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149473449	chr14:105757025-105757026	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187449805	chr14:105757101-105757102	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377374482	chr14:105757177-105757178	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs587690675	chr14:105757178-105757179	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143874938	chr14:105757199-105757200	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192843553	chr14:105757224-105757225	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112932938	chr14:105757231-105757232	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587679133	chr14:105757235-105757236	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146214969	chr14:105757250-105757251	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs587763264	chr14:105757270-105757271	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587618214	chr14:105757271-105757272	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs587700015	chr14:105757278-105757279	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs587757590	chr14:105757285-105757286	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs587655271	chr14:105757294-105757295	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs587710713	chr14:105757306-105757307	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184796146	chr14:105757307-105757308	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189258937	chr14:105757337-105757338	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs587720215	chr14:105757362-105757363	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs587604285	chr14:105757374-105757375	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs587680463	chr14:105757383-105757384	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs7146643	chr14:105757392-105757393	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs587596722	chr14:105757399-105757400	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587692722	chr14:105757412-105757413	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587730967	chr14:105757473-105757474	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs78190594	chr14:105757486-105757487	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs587736456	chr14:105757512-105757513	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs587620175	chr14:105757535-105757536	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs587698180	chr14:105757548-105757549	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1474 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
2	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:105722000-105760600	Weak transcription	NH-A	brain
4	chr14:105724200-105758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:105731200-105759000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:105739200-105759000	Weak transcription	Brain Germinal Matrix	brain
7	chr14:105739800-105765800	Weak transcription	NHEK	skin
8	chr14:105741600-105759000	Weak transcription	Small Intestine	intestine
9	chr14:105742200-105765600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:105742200-105765800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:105742400-105760400	Weak transcription	Osteobl	bone
12	chr14:105744600-105757000	Weak transcription	Psoas Muscle	Psoas
13	chr14:105744600-105766000	Weak transcription	HSMMtube	muscle
14	chr14:105745400-105760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:105747000-105757000	Weak transcription	Thymus	Thymus
16	chr14:105747000-105765600	Weak transcription	Colonic Mucosa	Colon
17	chr14:105747000-105766000	Weak transcription	Aorta	Aorta
18	chr14:105747200-105765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:105748200-105757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:105748200-105760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:105748200-105765800	Weak transcription	HMEC	breast
22	chr14:105748400-105759600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:105748600-105765800	Weak transcription	A549	lung
24	chr14:105748800-105760400	Weak transcription	Fetal Lung	lung
25	chr14:105749600-105760200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:105750000-105760000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:105750600-105756800	Weak transcription	GM12878-XiMat	blood
29	chr14:105750600-105758800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:105750600-105758800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:105750800-105756600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:105750800-105756600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:105750800-105756600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:105750800-105756800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:105750800-105759200	Weak transcription	Placenta	Placenta
36	chr14:105750800-105764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:105751000-105756800	Weak transcription	Left Ventricle	heart
38	chr14:105751000-105756800	Weak transcription	Spleen	Spleen
39	chr14:105751000-105757000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:105751000-105757200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr14:105751000-105758400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:105751000-105760200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:105751000-105760400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:105751000-105760800	Weak transcription	Dnd41	blood
45	chr14:105751200-105756800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:105751200-105757000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:105751800-105757000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:105751800-105757000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:105751800-105759400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:105752000-105757000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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