Variant report

Variant	nsv590357
Chromosome Location	chr3:53147576-53185061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1503)
CpG islands
(count:1038)
Chromatin interactive
region (count:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:53164274-53164727	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:53148854-53148971	K562	blood:	n/a	n/a
3	ARID3A	chr3:53166513-53166705	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:53163250-53163826	K562	blood:	n/a	n/a
5	ATF1	chr3:53164285-53164833	K562	blood:	n/a	chr3:53164476-53164490
6	ATF1	chr3:53165092-53165516	K562	blood:	n/a	n/a
7	ATF1	chr3:53171909-53172266	K562	blood:	n/a	n/a
8	ATF1	chr3:53163354-53164026	K562	blood:	n/a	n/a
9	ATF2	chr3:53164193-53164799	GM12878	blood:	n/a	chr3:53164476-53164490
10	ATF2	chr3:53164229-53164969	GM12878	blood:	n/a	chr3:53164476-53164490
11	ATF2	chr3:53164235-53164722	H1-hESC	embryonic stem cell:	n/a	chr3:53164476-53164490
12	ATF2	chr3:53164212-53164575	H1-hESC	embryonic stem cell:	n/a	chr3:53164476-53164490
13	ATF2	chr3:53147901-53148302	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr3:53164308-53164657	K562	blood:	n/a	chr3:53164478-53164491 chr3:53164526-53164535 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
15	ATF3	chr3:53164236-53164586	H1-hESC	embryonic stem cell:	n/a	chr3:53164478-53164491 chr3:53164526-53164535 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
16	ATF3	chr3:53164276-53164621	K562	blood:	n/a	chr3:53164478-53164491 chr3:53164526-53164535 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
17	ATF3	chr3:53164164-53164743	H1-hESC	embryonic stem cell:	n/a	chr3:53164478-53164491 chr3:53164526-53164535 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
18	ATF3	chr3:53164317-53164522	GM12878	blood:	n/a	chr3:53164478-53164491 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
19	ATF3	chr3:53164229-53164669	GM12878	blood:	n/a	chr3:53164478-53164491 chr3:53164526-53164535 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
20	ATF3	chr3:53164269-53164616	HepG2	liver:	n/a	chr3:53164478-53164491 chr3:53164526-53164535 chr3:53164480-53164490 chr3:53164468-53164488 chr3:53164478-53164489
21	BACH1	chr3:53149098-53149271	K562	blood:	n/a	n/a
22	BACH1	chr3:53160719-53160732	K562	blood:	n/a	n/a
23	BATF	chr3:53160614-53160888	GM12878	blood:	n/a	n/a
24	BCL11A	chr3:53160615-53160960	GM12878	blood:	n/a	n/a
25	BCL3	chr3:53176437-53176848	GM12878	blood:	n/a	n/a
26	BCL3	chr3:53164159-53164854	A549	lung:	n/a	chr3:53164419-53164428
27	BCL3	chr3:53174078-53175272	GM12878	blood:	n/a	n/a
28	BCL3	chr3:53174095-53175132	GM12878	blood:	n/a	n/a
29	BCLAF1	chr3:53168676-53169112	GM12878	blood:	n/a	n/a
30	BCLAF1	chr3:53164223-53164849	GM12878	blood:	n/a	chr3:53164419-53164428
31	BCLAF1	chr3:53147932-53148289	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:53174762-53175131	GM12878	blood:	n/a	chr3:53174950-53174959 chr3:53174948-53174961 chr3:53174949-53174958 chr3:53174950-53174959
33	BHLHE40	chr3:53174301-53174501	K562	blood:	n/a	n/a
34	BHLHE40	chr3:53168774-53169042	K562	blood:	n/a	n/a
35	BHLHE40	chr3:53163089-53163201	GM12878	blood:	n/a	n/a
36	BHLHE40	chr3:53172022-53172159	K562	blood:	n/a	n/a
37	BHLHE40	chr3:53174763-53175102	K562	blood:	n/a	chr3:53174950-53174959 chr3:53174948-53174961 chr3:53174949-53174958 chr3:53174950-53174959
38	BHLHE40	chr3:53184426-53184484	HepG2	liver:	n/a	n/a
39	BHLHE40	chr3:53181709-53181816	GM12878	blood:	n/a	n/a
40	BHLHE40	chr3:53174710-53175143	HepG2	liver:	n/a	chr3:53174950-53174959 chr3:53174948-53174961 chr3:53174949-53174958 chr3:53174950-53174959
41	BHLHE40	chr3:53164315-53164764	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:53163025-53165493	K562	blood:	n/a	n/a
43	BHLHE40	chr3:53148712-53149089	K562	blood:	n/a	n/a
44	BRCA1	chr3:53164300-53164781	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr3:53164236-53164506	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr3:53168897-53169094	HepG2	liver:	n/a	n/a
47	BRCA1	chr3:53164316-53164653	GM12878	blood:	n/a	n/a
48	BRCA1	chr3:53163736-53163852	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr3:53164341-53164588	HepG2	liver:	n/a	n/a
50	CBX3	chr3:53164731-53165515	K562	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53164389-53164439	HCM	heart:	n/a
2	chr3:53164389-53164439	HCM	heart:	n/a
3	chr3:53164425-53164475	AG04450	lung:	fetal
4	chr3:53165031-53165081	Jurkat	blood:	n/a
5	chr3:53148141-53148191	SK-N-SH	brain:	n/a
6	chr3:53162890-53162940	Jurkat	blood:	n/a
7	chr3:53173997-53174047	PrEC	prostate:	n/a
8	chr3:53164576-53164626	HCT-116	colon:	n/a
9	chr3:53164314-53164364	HCF	heart:	n/a
10	chr3:53164425-53164475	GM12892	blood:	n/a
11	chr3:53148141-53148191	H1-hESC	embryonic stem cell:	embryo
12	chr3:53161967-53162017	LNCaP	prostate:	n/a
13	chr3:53164588-53164638	HEEpiC	esophagus:	n/a
14	chr3:53164314-53164364	HEEpiC	esophagus:	n/a
15	chr3:53148141-53148191	HMEC	breast:	n/a
16	chr3:53164423-53164473	Caco-2	colon:	n/a
17	chr3:53164314-53164364	CMK	blood:	n/a
18	chr3:53164619-53164669	HEEpiC	esophagus:	n/a
19	chr3:53164314-53164364	HRPEpiC	eye:	n/a
20	chr3:53168665-53168715	HL-60	blood:	n/a
21	chr3:53148141-53148191	HRCEpiC	kidney:	n/a
22	chr3:53161967-53162017	AoSMC	blood vessel:	n/a
23	chr3:53164962-53165012	HMEC	breast:	n/a
24	chr3:53164619-53164669	HEK293	kidney:	embryo
25	chr3:53164697-53164747	NH-A	brain:	n/a
26	chr3:53164607-53164657	HAEpiC	amniotic membrane:	n/a
27	chr3:53164576-53164626	SKMC	muscle:	n/a
28	chr3:53148141-53148191	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:53164425-53164475	SKMC	muscle:	n/a
30	chr3:53164697-53164747	H1-hESC	embryonic stem cell:	embryo
31	chr3:53173997-53174047	ECC-1	luminal epithelium:	n/a
32	chr3:53161967-53162017	AG04450	lung:	fetal
33	chr3:53164423-53164473	HCT-116	colon:	n/a
34	chr3:53164697-53164747	HCT-116	colon:	n/a
35	chr3:53148141-53148191	AoSMC	blood vessel:	n/a
36	chr3:53164576-53164626	NHBE	bronchial:	n/a
37	chr3:53148141-53148191	HEK293	kidney:	embryo
38	chr3:53164667-53164717	Jurkat	blood:	n/a
39	chr3:53165031-53165081	GM12891	blood:	n/a
40	chr3:53164962-53165012	PANC-1	pancreas:	n/a
41	chr3:53164314-53164364	RPTEC	kidney:	n/a
42	chr3:53162890-53162940	RPTEC	kidney:	n/a
43	chr3:53164619-53164669	Jurkat	blood:	n/a
44	chr3:53164667-53164717	GM19239	blood:	n/a
45	chr3:53164667-53164717	Hela-S3	cervix:	n/a
46	chr3:53164619-53164669	HUVEC	blood vessel:	n/a
47	chr3:53162890-53162940	SKMC	muscle:	n/a
48	chr3:53161967-53162017	PrEC	prostate:	n/a
49	chr3:53164667-53164717	AoSMC	blood vessel:	n/a
50	chr3:53164576-53164626	Hela-S3	cervix:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:53172874..53174968-chr3:53193590..53195106,2	MCF-7	breast:
2	chr3:53162508..53166145-chr3:53169616..53173018,3	K562	blood:
3	chr3:53176620..53178879-chr3:53179713..53181872,2	MCF-7	breast:
4	chr3:53179014..53179589-chr3:53189843..53190532,2	MCF-7	breast:
5	chr3:53147634..53148660-chr3:53229191..53230888,15	K562	blood:
6	chr3:53148133..53149133-chr3:53270420..53271199,2	K562	blood:
7	chr3:53173740..53175835-chr3:53182321..53184485,2	MCF-7	breast:
8	chr3:53147149..53149280-chr3:53227312..53230160,3	K562	blood:
9	chr3:53179051..53179721-chr3:53585086..53585781,2	MCF-7	breast:
10	chr3:53147650..53148675-chr3:53229707..53230554,5	MCF-7	breast:
11	chr3:53147481..53152677-chr3:53161701..53165714,6	MCF-7	breast:
12	chr3:53168501..53169455-chr3:53194754..53195688,3	MCF-7	breast:
13	chr3:53155385..53158103-chr3:53228552..53231241,3	K562	blood:
14	chr3:53168443..53169334-chr3:53229545..53230512,6	MCF-7	breast:
15	chr3:53147149..53149237-chr3:53228020..53230160,2	K562	blood:
16	chr3:53148456..53152429-chr3:53152734..53156128,3	K562	blood:
17	chr3:53156309..53158944-chr3:53161442..53163138,2	K562	blood:
18	chr3:53171302..53172940-chr3:53173107..53174967,2	K562	blood:
19	chr11:93474325..93475060-chr3:53163950..53164468,2	Hela-S3	cervix:
20	chr3:53159803..53162439-chr3:53162979..53165475,2	K562	blood:
21	chr3:53168415..53169413-chr3:53219615..53220145,2	MCF-7	breast:
22	chr3:53173447..53176074-chr3:53189009..53191483,3	MCF-7	breast:
23	chr14:23564479..23565041-chr3:53163877..53164468,2	Hela-S3	cervix:
24	chr3:53154184..53156389-chr3:53161420..53163880,3	K562	blood:
25	chr3:53056801..53057547-chr3:53179048..53179588,2	MCF-7	breast:
26	chr3:53164535..53167069-chr3:53288219..53290615,2	MCF-7	breast:
27	chr3:53151215..53153381-chr3:53193780..53196967,3	MCF-7	breast:
28	chr3:53151107..53153969-chr3:53231326..53234111,2	K562	blood:
29	chr3:53173740..53175835-chr3:53182321..53184485,2	MCF-7	breast:
30	chr3:53143540..53146444-chr3:53154428..53158081,3	K562	blood:
31	chr3:53160152..53162531-chr3:53170013..53171718,2	K562	blood:
32	chr3:53165904..53167414-chr3:53254063..53255573,2	MCF-7	breast:
33	chr3:53171440..53173216-chr3:53176278..53178041,2	K562	blood:
34	chr3:53168393..53169379-chr3:53229728..53230708,4	MCF-7	breast:
35	chr3:53159175..53161619-chr3:53212406..53215272,2	MCF-7	breast:
36	chr3:53154210..53155090-chr7:10062733..10063442,2	MCF-7	breast:
37	chr3:53163425..53164926-chr3:53179286..53181203,2	K562	blood:
38	chr3:53137358..53139996-chr3:53159100..53161040,2	K562	blood:
39	chr3:53179282..53179845-chr3:53189806..53190563,3	MCF-7	breast:
40	chr3:53171440..53173216-chr3:53176278..53178041,2	K562	blood:
41	chr3:53162607..53165548-chr3:53173123..53174790,2	MCF-7	breast:
42	chr3:53163343..53166728-chr3:53167224..53170479,4	MCF-7	breast:
43	chr3:53150999..53152695-chr3:53199764..53202403,2	MCF-7	breast:
44	chr3:53154184..53156389-chr3:53161420..53163880,3	K562	blood:
45	chr1:11968051..11968664-chr3:53164398..53165064,2	HCT-116	colon:
46	chr3:53156517..53159649-chr3:53160824..53165429,5	K562	blood:
47	chr3:53156309..53158944-chr3:53161442..53163138,2	K562	blood:
48	chr3:53078388..53080393-chr3:53151497..53153388,2	K562	blood:
49	chr3:53147705..53149046-chr3:53229640..53231117,6	MCF-7	breast:
50	chr3:53160337..53170540-chr3:53189028..53198029,25	MCF-7	breast:

No data

Variant related genes	Relation type
RFT1	TF binding region
PRKCD	TF binding region
RFT1	CpG island
PRKCD	CpG island
ENSG00000100813	chromatin interactions
ENSG00000179933	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000163931	chromatin interactions
ENSG00000163935	chromatin interactions
ENSG00000051523	chromatin interactions
ENSG00000205084	chromatin interactions
ENSG00000213533	chromatin interactions
ENSG00000163933	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000016391	chromatin interactions
ENSG00000162290	chromatin interactions
ENSG00000163932	chromatin interactions
ENSG00000182919	chromatin interactions

Extended variants
information (count: 1352 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13088281	chr3:53147576-53147577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs141254567	chr3:53147594-53147595	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35604393	chr3:53147604-53147605	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566799856	chr3:53147642-53147643	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs80189341	chr3:53147651-53147652	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534633400	chr3:53147697-53147698	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199618849	chr3:53147705-53147706	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555401649	chr3:53147716-53147717	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147417644	chr3:53147758-53147759	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569292093	chr3:53147783-53147784	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547186802	chr3:53147812-53147813	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558280107	chr3:53147818-53147819	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577950366	chr3:53147824-53147825	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35724557	chr3:53147835-53147836	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13433700	chr3:53147886-53147887	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs34810202	chr3:53147900-53147901	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554024739	chr3:53147917-53147918	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574016202	chr3:53147939-53147940	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542778744	chr3:53148121-53148122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139669925	chr3:53148142-53148143	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145275685	chr3:53148166-53148167	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543962019	chr3:53148184-53148185	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564240602	chr3:53148210-53148211	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147645550	chr3:53148213-53148214	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139448657	chr3:53148228-53148229	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546638011	chr3:53148235-53148236	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566736261	chr3:53148242-53148243	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149674237	chr3:53148298-53148299	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77203638	chr3:53148308-53148309	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2059966	chr3:53148318-53148319	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538087384	chr3:53148436-53148437	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2564944	chr3:53148455-53148456	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs189656481	chr3:53148487-53148488	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181442832	chr3:53148508-53148509	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530251756	chr3:53148564-53148565	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs58561805	chr3:53148589-53148590	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6787566	chr3:53148595-53148596	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11714132	chr3:53148597-53148598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185284017	chr3:53148656-53148657	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536306327	chr3:53148660-53148661	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141301313	chr3:53148749-53148750	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375540153	chr3:53148775-53148776	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72967414	chr3:53148810-53148811	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2581804	chr3:53148833-53148834	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190108696	chr3:53148875-53148876	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545610233	chr3:53148917-53148918	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563997355	chr3:53148931-53148932	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577825070	chr3:53148958-53148959	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181833658	chr3:53148968-53148969	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374689213	chr3:53148976-53148977	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53107800-53151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:53119000-53154200	Weak transcription	Stomach Mucosa	stomach
3	chr3:53122800-53152200	Weak transcription	Small Intestine	intestine
4	chr3:53123200-53148600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr3:53124200-53151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:53127000-53154200	Weak transcription	Right Atrium	heart
7	chr3:53132000-53148000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:53133600-53152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:53137400-53151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:53137400-53161600	Strong transcription	Fetal Intestine Small	intestine
11	chr3:53137600-53147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:53138000-53151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:53138400-53151400	Weak transcription	Gastric	stomach
14	chr3:53139000-53148200	Weak transcription	HUVEC	blood vessel
15	chr3:53139000-53151200	Weak transcription	Colonic Mucosa	Colon
16	chr3:53139200-53147600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:53139200-53151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:53139200-53151400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:53139200-53157400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:53139400-53147800	Weak transcription	Ovary	ovary
21	chr3:53139400-53151200	Weak transcription	Esophagus	oesophagus
22	chr3:53139400-53151400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:53139600-53151400	Weak transcription	Aorta	Aorta
24	chr3:53140800-53149200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:53142800-53161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:53143000-53149400	Strong transcription	GM12878-XiMat	blood
27	chr3:53143400-53147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:53143600-53150800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:53143600-53151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:53143600-53151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:53143800-53147800	Strong transcription	Primary B cells from cord blood	blood
32	chr3:53143800-53148200	Weak transcription	HSMMtube	muscle
33	chr3:53144000-53151000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:53144200-53147600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:53144200-53148400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:53144200-53148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:53144200-53151000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:53144200-53151000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:53144200-53151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:53144400-53147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:53144400-53147800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:53144400-53149600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:53144400-53149600	Weak transcription	Fetal Kidney	kidney
44	chr3:53144600-53147800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:53144600-53147800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:53144600-53147800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:53144600-53147800	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:53144600-53147800	Weak transcription	Brain Substantia Nigra	brain
49	chr3:53144600-53147800	Strong transcription	Dnd41	blood
50	chr3:53144600-53147800	Weak transcription	K562	blood

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