Variant report

Variant	nsv826790
Chromosome Location	chr13:110395165-110463032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2383)
CpG islands
(count:2749)
Chromatin interactive
region (count:90)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:2383 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:110443363-110444054	K562	blood:	n/a	n/a
2	ARID3A	chr13:110397995-110398195	K562	blood:	n/a	n/a
3	ARID3A	chr13:110439189-110439250	K562	blood:	n/a	n/a
4	ATF1	chr13:110425676-110425963	K562	blood:	n/a	n/a
5	ATF3	chr13:110425616-110425940	K562	blood:	n/a	n/a
6	BACH1	chr13:110439610-110439935	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr13:110443178-110443554	K562	blood:	n/a	n/a
8	BACH1	chr13:110437536-110437689	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr13:110436949-110437136	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr13:110396759-110396788	K562	blood:	n/a	n/a
12	BACH1	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr13:110444816-110445103	GM12878	blood:	n/a	n/a
14	BHLHE40	chr13:110438776-110439348	K562	blood:	n/a	n/a
15	BHLHE40	chr13:110443862-110443866	GM12878	blood:	n/a	n/a
16	BHLHE40	chr13:110396833-110397222	K562	blood:	n/a	n/a
17	BHLHE40	chr13:110438833-110439061	GM12878	blood:	n/a	n/a
18	BHLHE40	chr13:110398001-110398401	K562	blood:	n/a	n/a
19	BHLHE40	chr13:110455359-110455659	HepG2	liver:	n/a	n/a
20	BHLHE40	chr13:110430608-110430953	K562	blood:	n/a	n/a
21	BHLHE40	chr13:110443585-110444009	K562	blood:	n/a	n/a
22	BRCA1	chr13:110396047-110396342	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr13:110437026-110437199	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr13:110434393-110434406	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr13:110432478-110433039	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr13:110421281-110421331	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr13:110443173-110444063	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr13:110438824-110439391	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr13:110455988-110456770	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr13:110430390-110430680	K562	blood:	n/a	n/a
31	CBX3	chr13:110438770-110439071	K562	blood:	n/a	n/a
32	CBX3	chr13:110430306-110430919	HCT-116	colon:	n/a	n/a
33	CCNT2	chr13:110443678-110443939	K562	blood:	n/a	n/a
34	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
35	CCNT2	chr13:110398867-110399149	K562	blood:	n/a	n/a
36	CCNT2	chr13:110398048-110398349	K562	blood:	n/a	n/a
37	CEBPB	chr13:110452748-110452788	HepG2	liver:	n/a	chr13:110452767-110452778
38	CEBPB	chr13:110439228-110439244	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr13:110447322-110447693	Hela-S3	cervix:	n/a	chr13:110447385-110447396
40	CEBPB	chr13:110441297-110441305	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr13:110447262-110447751	MCF-7	breast:	n/a	chr13:110447385-110447396
42	CEBPB	chr13:110447267-110447550	HepG2	liver:	n/a	chr13:110447385-110447396
43	CEBPB	chr13:110457301-110457562	IMR90	lung:	n/a	chr13:110457436-110457447
44	CEBPB	chr13:110457305-110457568	K562	blood:	n/a	chr13:110457436-110457447
45	CEBPB	chr13:110443571-110444030	A549	lung:	n/a	n/a
46	CEBPB	chr13:110438821-110439107	IMR90	lung:	n/a	n/a
47	CEBPB	chr13:110409247-110409324	H1-hESC	embryonic stem cell:	n/a	chr13:110409281-110409294
48	CEBPB	chr13:110443246-110443990	K562	blood:	n/a	chr13:110443334-110443345
49	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr13:110447316-110447549	A549	lung:	n/a	chr13:110447385-110447396

(count:2749 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110425835-110425885	AG09309	skin:	n/a
2	chr13:110408042-110408092	NB4	blood:	n/a
3	chr13:110437093-110437143	AG09319	gingival:	n/a
4	chr13:110434682-110434732	NB4	blood:	n/a
5	chr13:110425835-110425885	AG09309	skin:	n/a
6	chr13:110408042-110408092	NB4	blood:	n/a
7	chr13:110437093-110437143	AG09319	gingival:	n/a
8	chr13:110434682-110434732	NB4	blood:	n/a
9	chr13:110396942-110396992	NHBE	bronchial:	n/a
10	chr13:110437759-110437809	LNCaP	prostate:	n/a
11	chr13:110408042-110408092	HRE	kidney:	n/a
12	chr13:110424782-110424832	AG04449	skin:	fetal
13	chr13:110437093-110437143	PANC-1	pancreas:	n/a
14	chr13:110431612-110431662	MCF-7	breast:	n/a
15	chr13:110397643-110397693	H1-hESC	embryonic stem cell:	embryo
16	chr13:110438935-110438985	AG10803	skin:	n/a
17	chr13:110424782-110424832	HIPEpiC	eye:	n/a
18	chr13:110440179-110440229	K562	blood:	n/a
19	chr13:110438935-110438985	SK-N-MC	brain:	n/a
20	chr13:110408127-110408177	AG09309	skin:	n/a
21	chr13:110431691-110431741	HIPEpiC	eye:	n/a
22	chr13:110431691-110431741	H1-hESC	embryonic stem cell:	embryo
23	chr13:110440352-110440402	NH-A	brain:	n/a
24	chr13:110396942-110396992	AG09319	gingival:	n/a
25	chr13:110408042-110408092	PrEC	prostate:	n/a
26	chr13:110424782-110424832	NH-A	brain:	n/a
27	chr13:110440175-110440225	NHBE	bronchial:	n/a
28	chr13:110433636-110433686	GM19239	blood:	n/a
29	chr13:110438916-110438966	SK-N-MC	brain:	n/a
30	chr13:110398188-110398238	GM12892	blood:	n/a
31	chr13:110439453-110439503	AG04449	skin:	fetal
32	chr13:110440352-110440402	SK-N-MC	brain:	n/a
33	chr13:110438288-110438338	SK-N-MC	brain:	n/a
34	chr13:110432935-110432985	LNCaP	prostate:	n/a
35	chr13:110407356-110407406	BJ	skin:	n/a
36	chr13:110398293-110398343	GM12891	blood:	n/a
37	chr13:110397643-110397693	PFSK-1	brain:	n/a
38	chr13:110438906-110438956	HCT-116	colon:	n/a
39	chr13:110440352-110440402	ProgFib	skin:	n/a
40	chr13:110397189-110397239	MCF-7	breast:	n/a
41	chr13:110397643-110397693	NHDF-neo	bronchial:	n/a
42	chr13:110398293-110398343	MCF10A-Er-Src	breast:	n/a
43	chr13:110443740-110443790	Hela-S3	cervix:	n/a
44	chr13:110398188-110398238	LNCaP	prostate:	n/a
45	chr13:110436111-110436161	HMEC	breast:	n/a
46	chr13:110438578-110438628	HCT-116	colon:	n/a
47	chr13:110438906-110438956	PrEC	prostate:	n/a
48	chr13:110438256-110438306	CMK	blood:	n/a
49	chr13:110431612-110431662	T-47D	breast:	n/a
50	chr13:110435424-110435474	SKMC	muscle:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:109797385..109798328-chr13:110443580..110444081,2	MCF-7	breast:
2	chr13:110438490..110439006-chr6:26216450..26217232,2	Hela-S3	cervix:
3	chr13:110438834..110439674-chr3:197686852..197687479,2	Hela-S3	cervix:
4	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:
5	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
6	chr13:110079830..110080650-chr13:110436980..110437762,2	MCF-7	breast:
7	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
8	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
9	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
10	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
11	chr13:110437609..110438511-chr2:70520669..70521396,2	Hela-S3	cervix:
12	chr13:110445785..110447746-chr13:110765342..110767976,2	MCF-7	breast:
13	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
14	chr13:110436751..110439195-chr13:111365292..111367804,2	K562	blood:
15	chr13:110437538..110439483-chr13:110454282..110455861,2	K562	blood:
16	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
17	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
18	chr13:110394415..110400324-chr13:110434969..110439511,6	K562	blood:
19	chr13:110173341..110174851-chr13:110433335..110435967,2	MCF-7	breast:
20	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
21	chr13:110228282..110229151-chr13:110395790..110396755,3	MCF-7	breast:
22	chr13:110387460..110391261-chr13:110433185..110436412,3	K562	blood:
23	chr13:110437931..110439923-chr13:110442337..110443965,2	MCF-7	breast:
24	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
25	chr13:110372327..110374107-chr13:110434766..110436742,2	K562	blood:
26	chr13:110443953..110447179-chr13:110758507..110762069,3	MCF-7	breast:
27	chr13:110436747..110437632-chr2:157188777..157189594,2	Hela-S3	cervix:
28	chr13:110421522..110423213-chr13:110437049..110440164,3	K562	blood:
29	chr13:110456902..110459964-chr13:110462988..110465926,5	K562	blood:
30	chr13:110437769..110438360-chr13:111365491..111366397,2	NB4	blood:
31	chr13:110439408..110440218-chr17:26368504..26369181,2	Hela-S3	cervix:
32	chr13:109571569..109572240-chr13:110395804..110396331,2	MCF-7	breast:
33	chr13:110336875..110339890-chr13:110432636..110435480,3	K562	blood:
34	chr13:110347663..110350324-chr13:110443673..110445306,2	K562	blood:
35	chr13:110438522..110439383-chr7:23221250..23222004,2	NB4	blood:
36	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
37	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
38	chr13:110431371..110432927-chr13:111365497..111367425,2	K562	blood:
39	chr13:110439300..110440162-chr3:50336111..50336962,2	Hela-S3	cervix:
40	chr13:110395852..110397862-chr13:110423883..110426288,2	K562	blood:
41	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:
42	chr13:110446043..110447587-chr13:110455015..110457725,2	MCF-7	breast:
43	chr13:110367353..110370316-chr13:110433831..110435383,2	K562	blood:
44	chr13:110395852..110397862-chr13:110423883..110426288,2	K562	blood:
45	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
46	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
47	chr13:110399706..110404328-chr13:110411393..110414507,4	K562	blood:
48	chr13:110457347..110460369-chr13:110462988..110465176,3	K562	blood:
49	chr13:110262551..110263536-chr13:110436991..110438083,3	MCF-7	breast:
50	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120
2	lnc-COL4A2-3	chr13:110440328-110440912	NONHSAT035119
3	lnc-COL4A1-5	chr13:110419156-110419178	NONHSAT035118
4	lnc-COL4A2-3	chr13:110459260-110459542	XLOC_010495
5	lnc-COL4A2-3	chr13:110449278-110449516	NONHSAT035121
6	lnc-COL4A1-6	chr13:110407168-110407615	NONHSAT035117
7	lnc-COL4A2-3	chr13:110460336-110460414	NONHSAT035121
8	lnc-COL4A2-3	chr13:110439709-110439792	NONHSAT035121
9	lnc-COL4A2-3	chr13:110460336-110460349	XLOC_010495
10	lnc-COL4A1-5	chr13:110417658-110418068	NONHSAT035118
11	lnc-COL4A1-5	chr13:110418461-110418469	NONHSAT035118
12	lnc-COL4A2-3	chr13:110459404-110459542	NONHSAT035121
13	lnc-COL4A2-3	chr13:110433655-110433753	NONHSAT035119

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	IRS2	hsa-let-7b-5p	chr13:110408197-110408190
2	IRS2	hsa-miR-33a-5p	chr13:110407072-110407065
3	IRS2	hsa-miR-374b-5p	chr13:110407937-110407958
4	IRS2	hsa-miR-7-5p	chr13:110406337-110406361
5	IRS2	hsa-miR-7-5p	chr13:110407062-110407056
6	IRS2	hsa-miR-145-5p	chr13:110406278-110406300
7	IRS2	hsa-miR-7-5p	chr13:110407056-110407080
8	IRS2	hsa-let-7e-5p	chr13:110408191-110408216
9	IRS2	hsa-let-7b-5p	chr13:110408191-110408210
10	IRS2	hsa-miR-98-5p	chr13:110408191-110408216
11	IRS2	hsa-miR-7-5p	chr13:110406343-110406336
12	IRS2	hsa-miR-98-5p	chr13:110408197-110408190
13	IRS2	hsa-miR-33a-5p	chr13:110407066-110407086
14	IRS2	hsa-let-7e-5p	chr13:110408197-110408190

Variant related genes	Relation type
IRS2	TF binding region
ENSG00000255813	TF binding region
IRS2	CpG island
ENSG00000255813	CpG island
ENSG00000102786	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000225727	chromatin interactions
ENSG00000185621	chromatin interactions
ENSG00000102804	chromatin interactions
ENSG00000114473	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000255813	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000167968	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000157259	chromatin interactions
ENSG00000185950	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000153234	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000087095	chromatin interactions
ENSG00000136243	chromatin interactions
ENSG00000201558	chromatin interactions

Extended variants
information (count: 2473 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2473 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564334807	chr13:110395167-110395168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534718738	chr13:110395201-110395202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533717984	chr13:110395208-110395209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533185558	chr13:110395245-110395246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9559636	chr13:110395249-110395250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78448304	chr13:110395250-110395251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183598169	chr13:110395284-110395285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9515115	chr13:110395289-110395290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6492223	chr13:110395303-110395304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112557191	chr13:110395340-110395341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs57201472	chr13:110395516-110395517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374318078	chr13:110395517-110395518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71440034	chr13:110395518-110395519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572399358	chr13:110395581-110395582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190832075	chr13:110395587-110395588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561230250	chr13:110395642-110395643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35738507	chr13:110395667-110395668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574906088	chr13:110395673-110395674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543865273	chr13:110395701-110395702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58021650	chr13:110395730-110395731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111677111	chr13:110395768-110395769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552083268	chr13:110395771-110395772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559510024	chr13:110395849-110395850	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528141298	chr13:110395910-110395911	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549043896	chr13:110395944-110395945	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74123731	chr13:110395993-110395994	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568648055	chr13:110395995-110395996	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75879364	chr13:110396063-110396064	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536636334	chr13:110396094-110396095	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547652833	chr13:110396102-110396103	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570014201	chr13:110396117-110396118	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182012472	chr13:110396119-110396120	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558841281	chr13:110396151-110396152	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572614731	chr13:110396156-110396157	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111985634	chr13:110396157-110396158	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77030882	chr13:110396227-110396228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187119184	chr13:110396259-110396260	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370589618	chr13:110396263-110396264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530871153	chr13:110396306-110396307	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543829140	chr13:110396325-110396326	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34624439	chr13:110396365-110396366	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs36002955	chr13:110396370-110396371	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368232775	chr13:110396374-110396375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141192603	chr13:110396434-110396435	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372187367	chr13:110396440-110396441	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9559637	chr13:110396491-110396492	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9555630	chr13:110396501-110396502	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150784061	chr13:110396502-110396503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117129750	chr13:110396554-110396555	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530568352	chr13:110396594-110396595	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3007 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110386000-110396200	Weak transcription	Gastric	stomach
2	chr13:110389000-110395600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:110390200-110396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:110390200-110396800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:110390400-110396200	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:110390400-110396400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:110390600-110395600	Weak transcription	Dnd41	blood
8	chr13:110390600-110396000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:110390600-110396400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:110390800-110402200	Weak transcription	HSMM	muscle
11	chr13:110391000-110395800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:110391000-110396000	Weak transcription	Fetal Heart	heart
13	chr13:110391000-110396400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:110391200-110395600	Weak transcription	Placenta	Placenta
15	chr13:110391200-110402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:110391200-110404400	Weak transcription	HSMMtube	muscle
17	chr13:110391800-110395400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:110391800-110395400	Weak transcription	HMEC	breast
19	chr13:110392200-110396200	Weak transcription	Fetal Brain Male	brain
20	chr13:110392800-110396200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr13:110392800-110396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:110393200-110395400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:110393200-110395400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:110393200-110395600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:110393200-110395800	Weak transcription	HUVEC	blood vessel
26	chr13:110393200-110396600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:110393400-110395400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:110393800-110396400	Weak transcription	Spleen	Spleen
29	chr13:110394400-110396800	Weak transcription	Lung	lung
30	chr13:110395200-110395600	Enhancers	Liver	Liver
31	chr13:110395200-110397200	Enhancers	Duodenum Mucosa	Duodenum
32	chr13:110395200-110397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:110395400-110395600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:110395400-110396000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:110395400-110396200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:110395400-110396600	Enhancers	NHEK	skin
37	chr13:110395400-110397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:110395400-110397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr13:110395400-110397400	Enhancers	HMEC	breast
40	chr13:110395600-110395800	Enhancers	Primary hematopoietic stem cells	blood
41	chr13:110395600-110395800	Enhancers	Colonic Mucosa	Colon
42	chr13:110395600-110395800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:110395600-110396000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:110395600-110396200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:110395600-110396200	Enhancers	A549	lung
46	chr13:110395600-110396200	Enhancers	Dnd41	blood
47	chr13:110395600-110396200	Enhancers	Hela-S3	cervix
48	chr13:110395600-110396800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:110395600-110397600	Enhancers	Fetal Lung	lung
50	chr13:110395600-110397600	Enhancers	Placenta	Placenta

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