Variant report

Variant	nsv564965
Chromosome Location	chr14:69392445-69415962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1173)
CpG islands
(count:244)
Chromatin interactive
region (count:67)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1173 , 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	chr14:69405239-69405751	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:69412499-69412672	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:69408600-69408854	HepG2	liver:	n/a	n/a
4	ATF2	chr14:69408503-69408924	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:69408494-69408928	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr14:69408325-69409062	A549	lung:	n/a	n/a
7	ATF3	chr14:69408449-69409066	A549	lung:	n/a	n/a
8	ATF3	chr14:69408455-69409007	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr14:69408582-69408868	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr14:69406544-69407170	A549	lung:	n/a	n/a
11	BACH1	chr14:69408477-69408899	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr14:69406432-69407326	A549	lung:	n/a	n/a
13	BCL3	chr14:69404305-69405449	A549	lung:	n/a	chr14:69404832-69404839
14	BCL3	chr14:69408312-69409014	A549	lung:	n/a	n/a
15	BCL3	chr14:69406495-69407201	A549	lung:	n/a	n/a
16	BCL3	chr14:69408409-69409063	A549	lung:	n/a	n/a
17	BHLHE40	chr14:69414419-69414421	K562	blood:	n/a	n/a
18	BHLHE40	chr14:69406563-69406576	HepG2	liver:	n/a	n/a
19	BHLHE40	chr14:69402426-69402812	K562	blood:	n/a	chr14:69402589-69402602
20	CBX3	chr14:69392824-69393367	HCT-116	colon:	n/a	n/a
21	CBX3	chr14:69392964-69393248	K562	blood:	n/a	n/a
22	CBX3	chr14:69392910-69393214	K562	blood:	n/a	n/a
23	CEBPB	chr14:69408680-69408872	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:69406556-69407337	A549	lung:	n/a	chr14:69407187-69407198
25	CEBPB	chr14:69408565-69409044	MCF-7	breast:	n/a	n/a
26	CEBPB	chr14:69406668-69407302	Hela-S3	cervix:	n/a	chr14:69407187-69407198
27	CEBPB	chr14:69408370-69409181	A549	lung:	n/a	n/a
28	CEBPB	chr14:69408451-69409074	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr14:69409443-69409672	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr14:69406551-69407355	IMR90	lung:	n/a	chr14:69407187-69407198
31	CEBPB	chr14:69405467-69405736	HepG2	liver:	n/a	n/a
32	CEBPB	chr14:69406483-69407364	A549	lung:	n/a	chr14:69407187-69407198
33	CEBPB	chr14:69408511-69409049	A549	lung:	n/a	n/a
34	CEBPB	chr14:69405408-69405640	A549	lung:	n/a	n/a
35	CEBPB	chr14:69408586-69408967	HepG2	liver:	n/a	n/a
36	CEBPB	chr14:69408581-69408971	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr14:69408587-69408958	HepG2	liver:	n/a	n/a
38	CEBPB	chr14:69414569-69414853	A549	lung:	n/a	n/a
39	CEBPB	chr14:69406385-69407367	A549	lung:	n/a	chr14:69407187-69407198
40	CEBPB	chr14:69404990-69405917	A549	lung:	n/a	n/a
41	CEBPB	chr14:69408566-69408971	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr14:69406497-69407218	ECC-1	luminal epithelium:	n/a	chr14:69407187-69407198
43	CEBPB	chr14:69408526-69409025	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr14:69408511-69409022	MCF-7	breast:	n/a	n/a
45	CEBPB	chr14:69408552-69408981	IMR90	lung:	n/a	n/a
46	CEBPB	chr14:69408494-69409070	A549	lung:	n/a	n/a
47	CEBPB	chr14:69406652-69407318	HepG2	liver:	n/a	chr14:69407187-69407198
48	CEBPB	chr14:69407077-69407284	H1-hESC	embryonic stem cell:	n/a	chr14:69407187-69407198
49	CEBPD	chr14:69405435-69405837	HepG2	liver:	n/a	n/a
50	CHD1	chr14:69403664-69403749	H1-hESC	embryonic stem cell:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69403340-69403390	PrEC	prostate:	n/a
2	chr14:69408849-69408899	Caco-2	colon:	n/a
3	chr14:69415588-69415638	AG10803	skin:	n/a
4	chr14:69403340-69403390	SKMC	muscle:	n/a
5	chr14:69415588-69415638	BJ	skin:	n/a
6	chr14:69403340-69403390	U87	brain:	n/a
7	chr14:69403340-69403390	AG04450	lung:	fetal
8	chr14:69408849-69408899	SK-N-MC	brain:	n/a
9	chr14:69404437-69404487	NB4	blood:	n/a
10	chr14:69415588-69415638	AG04449	skin:	fetal
11	chr14:69415588-69415638	HUVEC	blood vessel:	n/a
12	chr14:69408849-69408899	PANC-1	pancreas:	n/a
13	chr14:69415588-69415638	HCM	heart:	n/a
14	chr14:69408849-69408899	BE2_C	brain:	n/a
15	chr14:69408849-69408899	T-47D	breast:	n/a
16	chr14:69403340-69403390	IMR90	lung:	fetal
17	chr14:69404437-69404487	GM06990	blood:	n/a
18	chr14:69403340-69403390	ProgFib	skin:	n/a
19	chr14:69404437-69404487	HAEpiC	amniotic membrane:	n/a
20	chr14:69408849-69408899	HCPEpiC	choroid plexus:	n/a
21	chr14:69404437-69404487	HEEpiC	esophagus:	n/a
22	chr14:69403340-69403390	AG09309	skin:	n/a
23	chr14:69404437-69404487	SAEC	small airway:	n/a
24	chr14:69403340-69403390	CMK	blood:	n/a
25	chr14:69415588-69415638	HRPEpiC	eye:	n/a
26	chr14:69415588-69415638	HepG2	liver:	n/a
27	chr14:69415588-69415638	MCF10A-Er-Src	breast:	n/a
28	chr14:69404437-69404487	T-47D	breast:	n/a
29	chr14:69408849-69408899	GM12878	blood:	n/a
30	chr14:69408849-69408899	SKMC	muscle:	n/a
31	chr14:69408849-69408899	GM12892	blood:	n/a
32	chr14:69404437-69404487	U87	brain:	n/a
33	chr14:69404437-69404487	GM19239	blood:	n/a
34	chr14:69404437-69404487	SK-N-SH	brain:	n/a
35	chr14:69408849-69408899	ECC-1	luminal epithelium:	n/a
36	chr14:69404437-69404487	HRPEpiC	eye:	n/a
37	chr14:69408849-69408899	AoSMC	blood vessel:	n/a
38	chr14:69404437-69404487	Jurkat	blood:	n/a
39	chr14:69404437-69404487	MCF10A-Er-Src	breast:	n/a
40	chr14:69404437-69404487	HIPEpiC	eye:	n/a
41	chr14:69408849-69408899	RPTEC	kidney:	n/a
42	chr14:69403340-69403390	Jurkat	blood:	n/a
43	chr14:69415588-69415638	ECC-1	luminal epithelium:	n/a
44	chr14:69403340-69403390	HCT-116	colon:	n/a
45	chr14:69404437-69404487	PrEC	prostate:	n/a
46	chr14:69415588-69415638	HRE	kidney:	n/a
47	chr14:69408849-69408899	A549	lung:	n/a
48	chr14:69415588-69415638	PFSK-1	brain:	n/a
49	chr14:69403340-69403390	T-47D	breast:	n/a
50	chr14:69404437-69404487	ECC-1	luminal epithelium:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:69404215..69405144-chr14:69468586..69469525,4	MCF-7	breast:
2	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:
3	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
4	chr14:69395351..69398250-chr14:69405084..69406992,2	MCF-7	breast:
5	chr14:69256868..69259474-chr14:69407183..69409516,2	MCF-7	breast:
6	chr14:69392677..69394471-chr14:69400892..69402453,2	MCF-7	breast:
7	chr14:69391007..69391868-chr14:69412625..69413278,3	MCF-7	breast:
8	chr14:69398400..69399960-chr14:69400937..69403157,2	MCF-7	breast:
9	chr14:69393526..69396798-chr14:69399350..69401820,3	K562	blood:
10	chr14:69375398..69378036-chr14:69403705..69406227,2	MCF-7	breast:
11	chr14:69395161..69397002-chr14:69397028..69399806,2	MCF-7	breast:
12	chr14:69404468..69406535-chr14:69406823..69410783,6	MCF-7	breast:
13	chr14:69398472..69402784-chr14:69442445..69448091,6	MCF-7	breast:
14	chr14:69378410..69381040-chr14:69408422..69410281,2	K562	blood:
15	chr14:69395161..69397002-chr14:69397028..69399806,2	MCF-7	breast:
16	chr14:69391007..69391868-chr14:69412642..69413278,3	MCF-7	breast:
17	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:
18	chr14:69385464..69388113-chr14:69393207..69396129,2	K562	blood:
19	chr14:69404468..69406535-chr14:69406823..69410783,6	MCF-7	breast:
20	chr14:69392677..69394471-chr14:69400892..69402453,2	MCF-7	breast:
21	chr14:69398400..69399960-chr14:69400937..69403157,2	MCF-7	breast:
22	chr14:69412106..69413788-chr14:69432458..69434178,2	MCF-7	breast:
23	chr14:69393285..69394901-chr14:69397519..69399946,2	MCF-7	breast:
24	chr14:69378493..69379017-chr14:69404482..69405216,2	MCF-7	breast:
25	chr14:69404362..69404958-chr14:69468830..69469409,2	MCF-7	breast:
26	chr14:69391196..69393563-chr14:69405048..69407847,2	MCF-7	breast:
27	chr14:69396929..69399873-chr14:69410580..69412434,2	K562	blood:
28	chr14:69392307..69395175-chr14:69395494..69398200,3	MCF-7	breast:
29	chr14:69408300..69408841-chr14:69468584..69469490,2	MCF-7	breast:
30	chr14:69386147..69387712-chr14:69396687..69398817,2	MCF-7	breast:
31	chr14:69415496..69418191-chr14:69439013..69440768,2	MCF-7	breast:
32	chr14:69394801..69397631-chr14:69439389..69441404,2	MCF-7	breast:
33	chr14:69403394..69405825-chr14:69407424..69410384,2	K562	blood:
34	chr14:69398641..69402402-chr14:69406063..69410861,5	MCF-7	breast:
35	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:
36	chr14:69404692..69406391-chr14:69468791..69470655,2	MCF-7	breast:
37	chr14:69378059..69378995-chr14:69407806..69408712,3	MCF-7	breast:
38	chr14:69388864..69393027-chr14:69403394..69408215,5	MCF-7	breast:
39	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
40	chr14:69415039..69417585-chr14:69434781..69436421,2	K562	blood:
41	chr14:69327935..69330072-chr14:69390363..69392923,3	MCF-7	breast:
42	chr14:69385491..69387674-chr14:69394991..69396604,2	MCF-7	breast:
43	chr14:69391196..69393563-chr14:69405048..69407847,2	MCF-7	breast:
44	chr14:69393285..69394901-chr14:69397519..69399946,2	MCF-7	breast:
45	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:
46	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
47	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
48	chr14:69403151..69404894-chr14:69408526..69410384,2	K562	blood:
49	chr14:69414883..69418076-chr14:69430003..69433073,3	MCF-7	breast:
50	chr14:69403394..69405825-chr14:69407424..69410384,2	K562	blood:

No data

Variant related genes	Relation type
ACTN1	TF binding region
BANF1P1	TF binding region
ACTN1	CpG island
BANF1P1	CpG island
ENSG00000185650	chromatin interactions
ENSG00000270975	chromatin interactions
ENSG00000072110	chromatin interactions
ENSG00000259062	chromatin interactions
ENSG00000258531	chromatin interactions

Extended variants
information (count: 912 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3742897	chr14:69392445-69392446	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74446338	chr14:69392467-69392468	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs555120012	chr14:69392490-69392491	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs192515678	chr14:69392538-69392539	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs536619362	chr14:69392619-69392620	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs552988935	chr14:69392663-69392664	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577909994	chr14:69392687-69392688	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111771544	chr14:69392720-69392721	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs555017780	chr14:69392722-69392723	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563265615	chr14:69392723-69392724	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs574907315	chr14:69392725-69392726	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs185081341	chr14:69392729-69392730	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566473277	chr14:69392753-69392754	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs560677489	chr14:69392758-69392759	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs528656824	chr14:69392777-69392778	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs375275161	chr14:69392836-69392837	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs4902672	chr14:69392881-69392882	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114483817	chr14:69392920-69392921	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs61981587	chr14:69392985-69392986	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs79098660	chr14:69393005-69393006	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549369906	chr14:69393021-69393022	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs4902673	chr14:69393028-69393029	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4902674	chr14:69393126-69393127	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146505687	chr14:69393143-69393144	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201501063	chr14:69393163-69393164	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537214603	chr14:69393182-69393183	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs72733531	chr14:69393183-69393184	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567017812	chr14:69393194-69393195	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542925965	chr14:69393211-69393212	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs139636273	chr14:69393291-69393292	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553092216	chr14:69393316-69393317	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12895271	chr14:69393330-69393331	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4902675	chr14:69393339-69393340	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76626725	chr14:69393373-69393374	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs17106608	chr14:69393450-69393451	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114199457	chr14:69393469-69393470	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560636707	chr14:69393470-69393471	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs114966300	chr14:69393481-69393482	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541471456	chr14:69393545-69393546	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs557154382	chr14:69393548-69393549	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565450238	chr14:69393550-69393551	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116829507	chr14:69393614-69393615	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551243597	chr14:69393631-69393632	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs72733532	chr14:69393632-69393633	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530114429	chr14:69393664-69393665	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116613129	chr14:69393665-69393666	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566883196	chr14:69393666-69393667	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534240567	chr14:69393703-69393704	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187473635	chr14:69393728-69393729	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575019502	chr14:69393818-69393819	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1383 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
4	chr14:69354000-69393200	Strong transcription	NHEK	skin
5	chr14:69354600-69393000	Strong transcription	Dnd41	blood
6	chr14:69362600-69393400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:69376000-69395400	Weak transcription	Brain Angular Gyrus	brain
9	chr14:69378800-69394000	Weak transcription	Stomach Mucosa	stomach
10	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:69380200-69392600	Strong transcription	HUVEC	blood vessel
12	chr14:69382000-69394200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:69385200-69393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:69387000-69395000	Weak transcription	Fetal Kidney	kidney
16	chr14:69387000-69402600	Weak transcription	K562	blood
17	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:69387800-69394600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:69388000-69392800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:69388000-69392800	Weak transcription	Fetal Brain Female	brain
22	chr14:69388000-69393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:69388200-69393000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:69388400-69392600	Genic enhancers	HepG2	liver
25	chr14:69388400-69393200	Genic enhancers	HMEC	breast
26	chr14:69389200-69394200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:69389400-69392600	Genic enhancers	Primary T cells from cord blood	blood
28	chr14:69389400-69393000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:69389400-69394000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:69389400-69397400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr14:69389600-69392600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:69389600-69392600	Genic enhancers	Colon Smooth Muscle	Colon
33	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
34	chr14:69389800-69392800	Strong transcription	Fetal Intestine Small	intestine
35	chr14:69390000-69392600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:69390000-69392600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:69390000-69393000	Strong transcription	Fetal Intestine Large	intestine
38	chr14:69390000-69397800	Weak transcription	Brain Anterior Caudate	brain
39	chr14:69390000-69402200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:69390200-69394000	Weak transcription	Aorta	Aorta
42	chr14:69390200-69402400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:69390600-69392600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr14:69390800-69392600	Strong transcription	Ovary	ovary
45	chr14:69390800-69392800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr14:69391200-69392600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:69391200-69392600	Strong transcription	Gastric	stomach
48	chr14:69391200-69392800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:69391400-69392800	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr14:69391400-69394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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