Variant report

Variant	nsv826792
Chromosome Location	chr13:110398678-110462209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2159)
CpG islands
(count:2382)
Chromatin interactive
region (count:83)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:2159 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

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	chr13:110439189-110439250	K562	blood:	n/a	n/a
3	ATF1	chr13:110425676-110425963	K562	blood:	n/a	n/a
4	ATF3	chr13:110425616-110425940	K562	blood:	n/a	n/a
5	BACH1	chr13:110443178-110443554	K562	blood:	n/a	n/a
6	BACH1	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr13:110439610-110439935	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	chr13:110437536-110437689	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr13:110444816-110445103	GM12878	blood:	n/a	n/a
12	BHLHE40	chr13:110443862-110443866	GM12878	blood:	n/a	n/a
13	BHLHE40	chr13:110443585-110444009	K562	blood:	n/a	n/a
14	BHLHE40	chr13:110455359-110455659	HepG2	liver:	n/a	n/a
15	BHLHE40	chr13:110438833-110439061	GM12878	blood:	n/a	n/a
16	BHLHE40	chr13:110430608-110430953	K562	blood:	n/a	n/a
17	BHLHE40	chr13:110438776-110439348	K562	blood:	n/a	n/a
18	BRCA1	chr13:110432478-110433039	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr13:110421281-110421331	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr13:110437026-110437199	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr13:110438824-110439391	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr13:110434393-110434406	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr13:110455988-110456770	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr13:110443173-110444063	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr13:110430306-110430919	HCT-116	colon:	n/a	n/a
26	CBX3	chr13:110438770-110439071	K562	blood:	n/a	n/a
27	CBX3	chr13:110430390-110430680	K562	blood:	n/a	n/a
28	CCNT2	chr13:110443678-110443939	K562	blood:	n/a	n/a
29	CCNT2	chr13:110398867-110399149	K562	blood:	n/a	n/a
30	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
31	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr13:110447262-110447751	MCF-7	breast:	n/a	chr13:110447385-110447396
33	CEBPB	chr13:110457273-110457569	HepG2	liver:	n/a	chr13:110457436-110457447
34	CEBPB	chr13:110443153-110444063	Hela-S3	cervix:	n/a	chr13:110443334-110443345
35	CEBPB	chr13:110436946-110437196	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr13:110439589-110439732	K562	blood:	n/a	n/a
37	CEBPB	chr13:110442516-110442781	A549	lung:	n/a	n/a
38	CEBPB	chr13:110456121-110456628	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr13:110444394-110444701	K562	blood:	n/a	chr13:110444584-110444595 chr13:110444546-110444559 chr13:110444584-110444595
40	CEBPB	chr13:110447267-110447550	HepG2	liver:	n/a	chr13:110447385-110447396
41	CEBPB	chr13:110443571-110444030	A549	lung:	n/a	n/a
42	CEBPB	chr13:110409254-110409347	A549	lung:	n/a	chr13:110409281-110409294
43	CEBPB	chr13:110443246-110443990	K562	blood:	n/a	chr13:110443334-110443345
44	CEBPB	chr13:110438821-110439107	IMR90	lung:	n/a	n/a
45	CEBPB	chr13:110414405-110414539	K562	blood:	n/a	n/a
46	CEBPB	chr13:110438849-110439087	K562	blood:	n/a	n/a
47	CEBPB	chr13:110442469-110442801	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr13:110457305-110457568	K562	blood:	n/a	chr13:110457436-110457447
49	CEBPB	chr13:110438769-110439370	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr13:110409247-110409324	H1-hESC	embryonic stem cell:	n/a	chr13:110409281-110409294

(count:2382 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110412178-110412228	Hepatocyte	liver:	n/a
2	chr13:110431691-110431741	NB4	blood:	n/a
3	chr13:110408127-110408177	HCF	heart:	n/a
4	chr13:110412178-110412228	Hepatocyte	liver:	n/a
5	chr13:110431691-110431741	NB4	blood:	n/a
6	chr13:110408127-110408177	HCF	heart:	n/a
7	chr13:110425835-110425885	NT2-D1	testis:	n/a
8	chr13:110438906-110438956	NH-A	brain:	n/a
9	chr13:110408127-110408177	SKMC	muscle:	n/a
10	chr13:110425835-110425885	HCPEpiC	choroid plexus:	n/a
11	chr13:110424686-110424736	PFSK-1	brain:	n/a
12	chr13:110431691-110431741	K562	blood:	n/a
13	chr13:110435424-110435474	HRE	kidney:	n/a
14	chr13:110439234-110439284	SKMC	muscle:	n/a
15	chr13:110437093-110437143	T-47D	breast:	n/a
16	chr13:110439453-110439503	IMR90	lung:	fetal
17	chr13:110434016-110434066	PFSK-1	brain:	n/a
18	chr13:110435424-110435474	SAEC	small airway:	n/a
19	chr13:110425835-110425885	SK-N-MC	brain:	n/a
20	chr13:110412178-110412228	BE2_C	brain:	n/a
21	chr13:110434016-110434066	HCM	heart:	n/a
22	chr13:110436111-110436161	AG10803	skin:	n/a
23	chr13:110438288-110438338	CMK	blood:	n/a
24	chr13:110439004-110439054	SK-N-SH_RA	brain:	n/a
25	chr13:110440352-110440402	AoSMC	blood vessel:	n/a
26	chr13:110436780-110436830	BJ	skin:	n/a
27	chr13:110407356-110407406	SKMC	muscle:	n/a
28	chr13:110438937-110438987	NT2-D1	testis:	n/a
29	chr13:110438937-110438987	HL-60	blood:	n/a
30	chr13:110439006-110439056	HUVEC	blood vessel:	n/a
31	chr13:110407356-110407406	AG09309	skin:	n/a
32	chr13:110438937-110438987	HUVEC	blood vessel:	n/a
33	chr13:110438256-110438306	Hela-S3	cervix:	n/a
34	chr13:110439234-110439284	HCF	heart:	n/a
35	chr13:110436740-110436790	MCF-7	breast:	n/a
36	chr13:110435424-110435474	U87	brain:	n/a
37	chr13:110432935-110432985	T-47D	breast:	n/a
38	chr13:110431691-110431741	NH-A	brain:	n/a
39	chr13:110434682-110434732	NT2-D1	testis:	n/a
40	chr13:110438935-110438985	AG09319	gingival:	n/a
41	chr13:110407356-110407406	T-47D	breast:	n/a
42	chr13:110424497-110424547	GM12891	blood:	n/a
43	chr13:110436780-110436830	PANC-1	pancreas:	n/a
44	chr13:110408127-110408177	T-47D	breast:	n/a
45	chr13:110436740-110436790	HEK293	kidney:	embryo
46	chr13:110439453-110439503	SKMC	muscle:	n/a
47	chr13:110435424-110435474	HCPEpiC	choroid plexus:	n/a
48	chr13:110437759-110437809	A549	lung:	n/a
49	chr13:110434016-110434066	T-47D	breast:	n/a
50	chr13:110432220-110432270	PrEC	prostate:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:110079830..110080650-chr13:110436980..110437762,2	MCF-7	breast:
2	chr13:110430383..110434613-chr13:110438487..110441138,4	MCF-7	breast:
3	chr13:110439300..110440162-chr3:50336111..50336962,2	Hela-S3	cervix:
4	chr13:110456902..110459964-chr13:110462988..110465926,5	K562	blood:
5	chr13:110431371..110432927-chr13:111365497..111367425,2	K562	blood:
6	chr13:110417399..110417917-chr13:110760942..110761494,2	MCF-7	breast:
7	chr13:110437769..110438360-chr13:111365491..111366397,2	NB4	blood:
8	chr13:110439408..110440218-chr17:26368504..26369181,2	Hela-S3	cervix:
9	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
10	chr13:110438834..110439674-chr3:197686852..197687479,2	Hela-S3	cervix:
11	chr13:110443953..110447179-chr13:110758507..110762069,3	MCF-7	breast:
12	chr13:45010548..45011431-chr13:110438404..110439086,2	Hela-S3	cervix:
13	chr13:110359448..110362939-chr13:110431472..110434391,4	K562	blood:
14	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
15	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
16	chr13:21347448..21348138-chr13:110438450..110439192,2	NB4	blood:
17	chr13:110347663..110350324-chr13:110443673..110445306,2	K562	blood:
18	chr13:110173341..110174851-chr13:110433335..110435967,2	MCF-7	breast:
19	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:
20	chr13:109611837..109614642-chr13:110445728..110448181,2	MCF-7	breast:
21	chr13:110399706..110404328-chr13:110411393..110414507,4	K562	blood:
22	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
23	chr13:110443809..110446667-chr13:110447479..110449756,2	K562	blood:
24	chr13:110433484..110434398-chr6:26157776..26158704,2	Hela-S3	cervix:
25	chr13:110445785..110447746-chr13:110765342..110767976,2	MCF-7	breast:
26	chr13:110436747..110437632-chr2:157188777..157189594,2	Hela-S3	cervix:
27	chr13:110421344..110422045-chr7:139043990..139044984,2	Hela-S3	cervix:
28	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
29	chr13:110438490..110439006-chr6:26216450..26217232,2	Hela-S3	cervix:
30	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
31	chr13:110461237..110464119-chr13:110472435..110474206,2	MCF-7	breast:
32	chr13:110437538..110439483-chr13:110454282..110455861,2	K562	blood:
33	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
34	chr13:110394415..110400324-chr13:110434969..110439511,6	K562	blood:
35	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
36	chr13:110436742..110438960-chr13:110459401..110461375,2	K562	blood:
37	chr13:110446043..110447587-chr13:110455015..110457725,2	MCF-7	breast:
38	chr13:110438627..110439624-chr2:32502857..32503409,2	NB4	blood:
39	chr13:110435545..110437326-chr13:110470827..110473616,2	K562	blood:
40	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:
41	chr13:110457347..110460369-chr13:110462988..110465176,3	K562	blood:
42	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:
43	chr13:110406850..110408586-chr13:110434989..110436543,2	K562	blood:
44	chr13:110438522..110439383-chr7:23221250..23222004,2	NB4	blood:
45	chr13:110443161..110443801-chr7:92076313..92077051,2	NB4	blood:
46	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
47	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
48	chr13:110308109..110310593-chr13:110433626..110436596,2	K562	blood:
49	chr13:110372207..110373827-chr13:110434766..110436789,2	K562	blood:
50	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:

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

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

No data

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

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

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

Extended variants
information (count: 2326 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2326 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185224336	chr13:110398716-110398717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535437845	chr13:110398719-110398720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192430596	chr13:110398730-110398731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533303202	chr13:110398765-110398766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551109792	chr13:110398774-110398775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564536557	chr13:110398775-110398776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539840361	chr13:110398807-110398808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183937340	chr13:110398822-110398823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113094514	chr13:110398842-110398843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566650191	chr13:110398901-110398902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562335558	chr13:110398933-110398934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569799788	chr13:110398955-110398956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535439579	chr13:110398975-110398976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199698099	chr13:110399003-110399004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201856242	chr13:110399005-110399006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201615522	chr13:110399006-110399007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201482753	chr13:110399010-110399011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188933022	chr13:110399041-110399042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568806821	chr13:110399048-110399049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs9559639	chr13:110399049-110399050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557892946	chr13:110399069-110399070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571367609	chr13:110399070-110399071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534020119	chr13:110399080-110399081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192904490	chr13:110399088-110399089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182750692	chr13:110399094-110399095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542643116	chr13:110399095-110399096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11843936	chr13:110399126-110399127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187174311	chr13:110399127-110399128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557987520	chr13:110399137-110399138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191676009	chr13:110399166-110399167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564677354	chr13:110399184-110399185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140529385	chr13:110399185-110399186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540853745	chr13:110399193-110399194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370813905	chr13:110399229-110399230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372800929	chr13:110399286-110399287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529392426	chr13:110399333-110399334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548917826	chr13:110399379-110399380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568920593	chr13:110399413-110399414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531599016	chr13:110399414-110399415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551364062	chr13:110399473-110399474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183727953	chr13:110399503-110399504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533739118	chr13:110399508-110399509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145897642	chr13:110399534-110399535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146627458	chr13:110399613-110399614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116102045	chr13:110399619-110399620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578034681	chr13:110399623-110399624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9521503	chr13:110399643-110399644	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557224668	chr13:110399644-110399645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573756645	chr13:110399652-110399653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575972663	chr13:110399661-110399662	Weak transcription	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:2814 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110390800-110402200	Weak transcription	HSMM	muscle
2	chr13:110391200-110402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr13:110391200-110404400	Weak transcription	HSMMtube	muscle
4	chr13:110395600-110404000	Weak transcription	Liver	Liver
5	chr13:110396200-110398800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:110396400-110401200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:110396600-110402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:110396600-110404000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:110396600-110404400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr13:110396600-110404400	Weak transcription	Gastric	stomach
12	chr13:110396600-110407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr13:110396600-110407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:110396600-110411800	Weak transcription	Fetal Kidney	kidney
15	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:110396800-110402800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:110396800-110403000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr13:110396800-110404400	Weak transcription	Primary T cells from cord blood	blood
21	chr13:110396800-110405800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:110396800-110406600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr13:110396800-110411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:110397000-110403400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:110397000-110404200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:110397000-110404400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:110397000-110404600	Weak transcription	Brain Angular Gyrus	brain
29	chr13:110397000-110405000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:110397000-110405400	Weak transcription	Hela-S3	cervix
31	chr13:110397000-110405600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr13:110397000-110406200	Weak transcription	NHDF-Ad	bronchial
33	chr13:110397000-110407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr13:110397000-110407400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:110397000-110407800	Weak transcription	Fetal Thymus	thymus
36	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr13:110397200-110402800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:110397200-110404400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:110397200-110404400	Weak transcription	Brain Germinal Matrix	brain
41	chr13:110397200-110406600	Weak transcription	NH-A	brain
42	chr13:110397200-110407400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr13:110397200-110407800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr13:110397200-110408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr13:110397200-110411400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:110397200-110430400	Weak transcription	NHLF	lung
47	chr13:110397400-110399800	Weak transcription	A549	lung
48	chr13:110397400-110402800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:110397400-110403200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:110397400-110404200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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