Variant report

Variant	nsv883291
Chromosome Location	chr5:179755559-179818868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179758273-179758284	K562	blood:	n/a	n/a
2	ATF2	chr5:179755640-179756058	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:179770369-179771163	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:179758507-179759265	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:179755543-179755996	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:179758900-179759312	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr5:179757685-179758309	A549	lung:	n/a	chr5:179758018-179758031
8	ATF3	chr5:179757614-179758313	A549	lung:	n/a	chr5:179758018-179758031
9	BACH1	chr5:179781289-179781456	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr5:179779393-179779698	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr5:179779057-179779111	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:179779932-179780969	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:179758683-179759306	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:179770098-179770954	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr5:179794267-179794718	GM12878	blood:	n/a	n/a
16	BATF	chr5:179794372-179794604	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:179794291-179794620	GM12878	blood:	n/a	n/a
18	BCL3	chr5:179757567-179758375	A549	lung:	n/a	n/a
19	BCL3	chr5:179760561-179761070	A549	lung:	n/a	n/a
20	BCL3	chr5:179760458-179761065	A549	lung:	n/a	n/a
21	BCL3	chr5:179792018-179792284	GM12878	blood:	n/a	n/a
22	BCL3	chr5:179757304-179758364	A549	lung:	n/a	n/a
23	BHLHE40	chr5:179817911-179818150	K562	blood:	n/a	n/a
24	BHLHE40	chr5:179758303-179758312	K562	blood:	n/a	n/a
25	BHLHE40	chr5:179755711-179755966	K562	blood:	n/a	n/a
26	BRCA1	chr5:179755877-179756111	GM12878	blood:	n/a	n/a
27	BRCA1	chr5:179757619-179758209	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr5:179770456-179770896	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr5:179755688-179755870	HepG2	liver:	n/a	n/a
30	BRCA1	chr5:179759018-179759189	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr5:179755539-179755989	K562	blood:	n/a	n/a
32	CCNT2	chr5:179779882-179780557	K562	blood:	n/a	n/a
33	CEBPB	chr5:179771027-179771408	IMR90	lung:	n/a	n/a
34	CEBPB	chr5:179794087-179794402	IMR90	lung:	n/a	chr5:179794232-179794245 chr5:179794232-179794245 chr5:179794234-179794245 chr5:179794232-179794243
35	CEBPB	chr5:179780557-179780688	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr5:179769172-179769351	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr5:179770101-179770540	IMR90	lung:	n/a	n/a
38	CEBPB	chr5:179760604-179761012	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr5:179757711-179758154	K562	blood:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
40	CEBPB	chr5:179770928-179771445	A549	lung:	n/a	n/a
41	CEBPB	chr5:179757694-179758112	ECC-1	luminal epithelium:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
42	CEBPB	chr5:179770955-179771594	MCF-7	breast:	n/a	n/a
43	CEBPB	chr5:179757643-179758359	A549	lung:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
44	CEBPB	chr5:179757537-179758306	HCT-116	colon:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
45	CEBPB	chr5:179757632-179758218	ECC-1	luminal epithelium:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
46	CEBPB	chr5:179757683-179758335	MCF-7	breast:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
47	CEBPB	chr5:179760595-179761042	A549	lung:	n/a	n/a
48	CEBPB	chr5:179760526-179761150	A549	lung:	n/a	n/a
49	CEBPB	chr5:179755711-179755995	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr5:179757725-179758057	HepG2	liver:	n/a	chr5:179757872-179757881 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179765449-179765499	HCPEpiC	choroid plexus:	n/a
2	chr5:179771628-179771678	HepG2	liver:	n/a
3	chr5:179758012-179758062	GM12892	blood:	n/a
4	chr5:179779237-179779287	HCPEpiC	choroid plexus:	n/a
5	chr5:179777565-179777615	ECC-1	luminal epithelium:	n/a
6	chr5:179779205-179779255	MCF10A-Er-Src	breast:	n/a
7	chr5:179765449-179765499	HCPEpiC	choroid plexus:	n/a
8	chr5:179771628-179771678	HepG2	liver:	n/a
9	chr5:179758012-179758062	GM12892	blood:	n/a
10	chr5:179779237-179779287	HCPEpiC	choroid plexus:	n/a
11	chr5:179777565-179777615	ECC-1	luminal epithelium:	n/a
12	chr5:179779205-179779255	MCF10A-Er-Src	breast:	n/a
13	chr5:179783846-179783896	HCT-116	colon:	n/a
14	chr5:179806747-179806797	AG09309	skin:	n/a
15	chr5:179778527-179778577	CMK	blood:	n/a
16	chr5:179762999-179763049	SK-N-MC	brain:	n/a
17	chr5:179780409-179780459	NT2-D1	testis:	n/a
18	chr5:179781245-179781295	HAEpiC	amniotic membrane:	n/a
19	chr5:179806747-179806797	MCF10A-Er-Src	breast:	n/a
20	chr5:179781547-179781597	AoSMC	blood vessel:	n/a
21	chr5:179778527-179778577	NT2-D1	testis:	n/a
22	chr5:179763678-179763728	ECC-1	luminal epithelium:	n/a
23	chr5:179806657-179806707	SK-N-SH	brain:	n/a
24	chr5:179763055-179763105	AG09309	skin:	n/a
25	chr5:179781547-179781597	GM12878	blood:	n/a
26	chr5:179780802-179780852	GM19239	blood:	n/a
27	chr5:179779664-179779714	HCM	heart:	n/a
28	chr5:179815975-179816025	HCM	heart:	n/a
29	chr5:179770299-179770349	SK-N-SH_RA	brain:	n/a
30	chr5:179775488-179775538	T-47D	breast:	n/a
31	chr5:179775488-179775538	ProgFib	skin:	n/a
32	chr5:179779664-179779714	CMK	blood:	n/a
33	chr5:179763951-179764001	HEEpiC	esophagus:	n/a
34	chr5:179755573-179755623	NB4	blood:	n/a
35	chr5:179779954-179780004	HRPEpiC	eye:	n/a
36	chr5:179780314-179780364	HCPEpiC	choroid plexus:	n/a
37	chr5:179778527-179778577	IMR90	lung:	fetal
38	chr5:179780802-179780852	K562	blood:	n/a
39	chr5:179779115-179779165	HIPEpiC	eye:	n/a
40	chr5:179815975-179816025	BE2_C	brain:	n/a
41	chr5:179765449-179765499	MCF-7	breast:	n/a
42	chr5:179758012-179758062	NHBE	bronchial:	n/a
43	chr5:179779205-179779255	Hepatocyte	liver:	n/a
44	chr5:179763678-179763728	T-47D	breast:	n/a
45	chr5:179779115-179779165	LNCaP	prostate:	n/a
46	chr5:179762999-179763049	BJ	skin:	n/a
47	chr5:179780409-179780459	SK-N-SH	brain:	n/a
48	chr5:179763432-179763482	Jurkat	blood:	n/a
49	chr5:179763432-179763482	HUVEC	blood vessel:	n/a
50	chr5:179780563-179780613	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179773523..179775138-chr5:179800257..179803108,2	MCF-7	breast:
2	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
3	chr5:179804942..179807127-chr5:179808323..179810526,2	K562	blood:
4	chr5:179755365..179757615-chr5:179761406..179763311,3	K562	blood:
5	chr5:179803275..179805488-chr5:179810021..179812217,2	MCF-7	breast:
6	chr5:179773523..179775138-chr5:179800257..179803108,2	MCF-7	breast:
7	chr5:179771513..179773168-chr5:179773913..179776480,2	K562	blood:
8	chr5:179755365..179757615-chr5:179761406..179763311,3	K562	blood:
9	chr5:179720303..179721088-chr5:179756913..179757480,2	MCF-7	breast:
10	chr5:179770572..179772662-chr5:179890635..179892698,2	MCF-7	breast:
11	chr5:179714950..179716889-chr5:179783751..179785977,2	K562	blood:
12	chr5:179801796..179803695-chr5:179808228..179810019,2	MCF-7	breast:
13	chr5:179720130..179723028-chr5:179758867..179761631,2	MCF-7	breast:
14	chr5:179804942..179807127-chr5:179808323..179810526,2	K562	blood:
15	chr5:179760436..179761974-chr5:179802802..179805254,2	MCF-7	breast:
16	chr5:179772488..179776798-chr5:179777928..179781659,4	K562	blood:
17	chr5:179801796..179803695-chr5:179808228..179810019,2	MCF-7	breast:
18	chr5:179741922..179743146-chr5:179755337..179756583,4	MCF-7	breast:
19	chr5:179743201..179745094-chr5:179754638..179756187,2	MCF-7	breast:
20	chr5:179803767..179805689-chr5:179809900..179812491,2	K562	blood:
21	chr5:179799196..179802015-chr5:180050331..180053003,2	MCF-7	breast:
22	chr5:179739780..179742416-chr5:179755432..179756942,2	MCF-7	breast:
23	chr5:179776807..179778775-chr5:179896611..179898165,2	MCF-7	breast:
24	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:
25	chr5:179743533..179745138-chr5:179758966..179761002,2	K562	blood:
26	chr5:179761126..179762815-chr5:179764028..179766885,2	MCF-7	breast:
27	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:
28	chr5:179769960..179774834-chr5:179776858..179780892,7	MCF-7	breast:
29	chr5:179761022..179762666-chr5:179778358..179780120,2	MCF-7	breast:
30	chr5:179805841..179808763-chr5:179880689..179883410,2	MCF-7	breast:
31	chr5:179752563..179754088-chr5:179754350..179755919,2	K562	blood:
32	chr5:179778359..179781010-chr5:179803668..179805755,2	MCF-7	breast:
33	chr5:179803275..179805488-chr5:179810021..179812217,2	MCF-7	breast:
34	chr5:179718232..179719781-chr5:179756949..179759059,2	MCF-7	breast:
35	chr5:179817994..179819684-chr5:179863109..179865015,2	MCF-7	breast:
36	chr5:179761126..179762815-chr5:179764028..179766885,2	MCF-7	breast:
37	chr5:179739354..179741668-chr5:179785404..179788387,2	MCF-7	breast:
38	chr5:179719776..179721079-chr5:179755388..179756357,4	MCF-7	breast:
39	chr5:179762875..179766753-chr5:179777618..179780359,3	MCF-7	breast:
40	chr5:179780821..179782818-chr5:179787317..179788997,2	K562	blood:
41	chr5:179795278..179797772-chr5:179803121..179806060,2	MCF-7	breast:
42	chr5:179803767..179805689-chr5:179809900..179812491,2	K562	blood:
43	chr5:179760436..179761974-chr5:179802802..179805254,2	MCF-7	breast:
44	chr5:179771513..179773168-chr5:179773913..179776480,2	K562	blood:
45	chr5:179628027..179629201-chr5:179755361..179756060,4	K562	blood:
46	chr5:179779053..179781743-chr5:179782103..179785187,4	MCF-7	breast:
47	chr5:179719106..179721039-chr5:179754091..179757820,3	MCF-7	breast:
48	chr5:179753387..179757614-chr5:179776973..179781058,5	MCF-7	breast:
49	chr5:179763941..179765836-chr5:179767390..179770088,2	K562	blood:
50	chr5:179720189..179721270-chr5:179755375..179756476,9	MCF-7	breast:

Variant related genes	Relation type
GFPT2	TF binding region
GFPT2	CpG island
ENSG00000248367	chromatin interactions
ENSG00000131459	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000113300	chromatin interactions

Extended variants
information (count: 2904 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2904 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7730414	chr5:179755559-179755560	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539078100	chr5:179755560-179755561	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs372853754	chr5:179755599-179755600	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs573556000	chr5:179755600-179755601	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs185608047	chr5:179755682-179755683	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs558986039	chr5:179755683-179755684	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs528179563	chr5:179755708-179755709	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs544774866	chr5:179755710-179755711	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564945111	chr5:179755726-179755727	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs115454800	chr5:179755744-179755745	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs190283064	chr5:179755758-179755759	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567597101	chr5:179755770-179755771	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs182044311	chr5:179755779-179755780	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576085780	chr5:179755798-179755799	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs530106298	chr5:179755799-179755800	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs547026336	chr5:179755805-179755806	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs566923802	chr5:179755833-179755834	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs73349695	chr5:179755873-179755874	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543698443	chr5:179755874-179755875	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs149296711	chr5:179755892-179755893	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs72811040	chr5:179755911-179755912	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs186579353	chr5:179755936-179755937	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs554957580	chr5:179755953-179755954	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs73813212	chr5:179755973-179755974	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542171706	chr5:179755991-179755992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs77010172	chr5:179756001-179756002	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs541279564	chr5:179756055-179756056	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572566409	chr5:179756060-179756061	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs188700587	chr5:179756080-179756081	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565017735	chr5:179756083-179756084	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs371252832	chr5:179756101-179756102	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs181278024	chr5:179756110-179756111	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs544433872	chr5:179756120-179756121	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs148529289	chr5:179756171-179756172	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370952416	chr5:179756191-179756192	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141853769	chr5:179756207-179756208	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs62404934	chr5:179756208-179756209	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560486490	chr5:179756218-179756219	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs73813213	chr5:179756224-179756225	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577932459	chr5:179756250-179756251	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369199234	chr5:179756285-179756286	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs569375753	chr5:179756348-179756349	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs185480894	chr5:179756380-179756381	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs538015993	chr5:179756388-179756389	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs372751827	chr5:179756407-179756408	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs548769235	chr5:179756426-179756427	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs370411399	chr5:179756454-179756455	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs73813215	chr5:179756483-179756484	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534235017	chr5:179756558-179756559	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs151203109	chr5:179756560-179756561	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1638 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179727000-179755800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:179727200-179757400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr5:179727200-179757400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:179727400-179757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:179727600-179757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
9	chr5:179731600-179755600	Weak transcription	Fetal Brain Female	brain
10	chr5:179738000-179758000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:179738200-179755600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:179739600-179761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:179740400-179757400	Weak transcription	NHLF	lung
14	chr5:179740600-179757600	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr5:179741600-179756000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:179741600-179757600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:179741600-179762600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:179741800-179758200	Weak transcription	Fetal Intestine Small	intestine
19	chr5:179742000-179757400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:179742600-179757800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:179743200-179761000	Weak transcription	Right Ventricle	heart
22	chr5:179743400-179758200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:179743800-179756400	Weak transcription	Colonic Mucosa	Colon
24	chr5:179743800-179757400	Weak transcription	Fetal Lung	lung
25	chr5:179744000-179766600	Weak transcription	Gastric	stomach
26	chr5:179746000-179760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:179746000-179761400	Weak transcription	Right Atrium	heart
28	chr5:179749200-179757400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:179750200-179756600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:179750200-179757400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:179751600-179756200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:179751800-179755600	Weak transcription	Adipose Nuclei	Adipose
33	chr5:179751800-179757400	Weak transcription	HSMMtube	muscle
34	chr5:179752000-179755600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:179752000-179756000	Strong transcription	Osteobl	bone
36	chr5:179752200-179756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:179752200-179756400	Strong transcription	NH-A	brain
38	chr5:179752200-179759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:179752400-179756800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:179752400-179757400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:179752400-179758800	Weak transcription	Left Ventricle	heart
42	chr5:179752400-179760800	Weak transcription	Brain Germinal Matrix	brain
43	chr5:179752400-179760800	Weak transcription	Brain Substantia Nigra	brain
44	chr5:179752600-179758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:179753200-179756800	Weak transcription	Esophagus	oesophagus
46	chr5:179754000-179758200	Strong transcription	Fetal Stomach	stomach
47	chr5:179754000-179758800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:179754200-179756200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:179754200-179758800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:179754400-179756000	Strong transcription	Ovary	ovary

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