Variant report

Variant	nsv826791
Chromosome Location	chr13:110397733-110462553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2198)
CpG islands
(count:2567)
Chromatin interactive
region (count:85)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:2198 , 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	chr13:110439189-110439250	K562	blood:	n/a	n/a
2	ARID3A	chr13:110397995-110398195	K562	blood:	n/a	n/a
3	ARID3A	chr13:110443363-110444054	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	chr13:110443178-110443554	K562	blood:	n/a	n/a
7	BACH1	chr13:110436949-110437136	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr13:110439162-110439355	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr13:110439610-110439935	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr13:110438037-110438193	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr13:110437536-110437689	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr13:110444816-110445103	GM12878	blood:	n/a	n/a
13	BHLHE40	chr13:110430608-110430953	K562	blood:	n/a	n/a
14	BHLHE40	chr13:110455359-110455659	HepG2	liver:	n/a	n/a
15	BHLHE40	chr13:110443585-110444009	K562	blood:	n/a	n/a
16	BHLHE40	chr13:110438776-110439348	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	chr13:110443862-110443866	GM12878	blood:	n/a	n/a
20	BRCA1	chr13:110432478-110433039	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr13:110438824-110439391	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr13:110443173-110444063	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr13:110437026-110437199	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr13:110421281-110421331	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr13:110455988-110456770	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr13:110434393-110434406	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr13:110430390-110430680	K562	blood:	n/a	n/a
28	CBX3	chr13:110438770-110439071	K562	blood:	n/a	n/a
29	CBX3	chr13:110430306-110430919	HCT-116	colon:	n/a	n/a
30	CCNT2	chr13:110443678-110443939	K562	blood:	n/a	n/a
31	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
32	CCNT2	chr13:110398867-110399149	K562	blood:	n/a	n/a
33	CCNT2	chr13:110398048-110398349	K562	blood:	n/a	n/a
34	CEBPB	chr13:110438769-110439370	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr13:110456121-110456628	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr13:110438162-110438328	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr13:110452748-110452788	HepG2	liver:	n/a	chr13:110452767-110452778
38	CEBPB	chr13:110443153-110444063	Hela-S3	cervix:	n/a	chr13:110443334-110443345
39	CEBPB	chr13:110442524-110442786	IMR90	lung:	n/a	n/a
40	CEBPB	chr13:110447322-110447693	Hela-S3	cervix:	n/a	chr13:110447385-110447396
41	CEBPB	chr13:110447262-110447751	MCF-7	breast:	n/a	chr13:110447385-110447396
42	CEBPB	chr13:110443243-110443442	HepG2	liver:	n/a	chr13:110443334-110443345
43	CEBPB	chr13:110441297-110441305	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr13:110447267-110447550	HepG2	liver:	n/a	chr13:110447385-110447396
45	CEBPB	chr13:110457305-110457568	K562	blood:	n/a	chr13:110457436-110457447
46	CEBPB	chr13:110457273-110457569	HepG2	liver:	n/a	chr13:110457436-110457447
47	CEBPB	chr13:110443571-110444030	A549	lung:	n/a	n/a
48	CEBPB	chr13:110447316-110447549	A549	lung:	n/a	chr13:110447385-110447396
49	CEBPB	chr13:110439228-110439244	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr13:110409247-110409324	H1-hESC	embryonic stem cell:	n/a	chr13:110409281-110409294

(count:2567 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:110436740-110436790	SKMC	muscle:	n/a
2	chr13:110431612-110431662	SK-N-SH	brain:	n/a
3	chr13:110439453-110439503	AG04450	lung:	fetal
4	chr13:110437561-110437611	ovcar-3	ovarian:	n/a
5	chr13:110408127-110408177	HPAEpiC	pulmonary alveolar:	n/a
6	chr13:110436740-110436790	SKMC	muscle:	n/a
7	chr13:110431612-110431662	SK-N-SH	brain:	n/a
8	chr13:110439453-110439503	AG04450	lung:	fetal
9	chr13:110437561-110437611	ovcar-3	ovarian:	n/a
10	chr13:110408127-110408177	HPAEpiC	pulmonary alveolar:	n/a
11	chr13:110439004-110439054	GM12878	blood:	n/a
12	chr13:110432935-110432985	U87	brain:	n/a
13	chr13:110436111-110436161	ProgFib	skin:	n/a
14	chr13:110438935-110438985	NHDF-neo	bronchial:	n/a
15	chr13:110424686-110424736	H1-hESC	embryonic stem cell:	embryo
16	chr13:110432935-110432985	HRPEpiC	eye:	n/a
17	chr13:110440175-110440225	SAEC	small airway:	n/a
18	chr13:110438288-110438338	HRCEpiC	kidney:	n/a
19	chr13:110436740-110436790	GM19239	blood:	n/a
20	chr13:110437759-110437809	BE2_C	brain:	n/a
21	chr13:110407356-110407406	K562	blood:	n/a
22	chr13:110434016-110434066	MCF-7	breast:	n/a
23	chr13:110431612-110431662	HEEpiC	esophagus:	n/a
24	chr13:110437561-110437611	AG09319	gingival:	n/a
25	chr13:110438937-110438987	HepG2	liver:	n/a
26	chr13:110398293-110398343	LNCaP	prostate:	n/a
27	chr13:110431691-110431741	AG04449	skin:	fetal
28	chr13:110407356-110407406	NT2-D1	testis:	n/a
29	chr13:110433784-110433834	HCM	heart:	n/a
30	chr13:110424497-110424547	SK-N-MC	brain:	n/a
31	chr13:110424782-110424832	Hepatocyte	liver:	n/a
32	chr13:110436740-110436790	AG09319	gingival:	n/a
33	chr13:110424686-110424736	K562	blood:	n/a
34	chr13:110437759-110437809	HEEpiC	esophagus:	n/a
35	chr13:110433636-110433686	HCM	heart:	n/a
36	chr13:110412178-110412228	GM06990	blood:	n/a
37	chr13:110436740-110436790	CMK	blood:	n/a
38	chr13:110408127-110408177	HEK293	kidney:	embryo
39	chr13:110438937-110438987	HCPEpiC	choroid plexus:	n/a
40	chr13:110438288-110438338	ECC-1	luminal epithelium:	n/a
41	chr13:110432220-110432270	GM19239	blood:	n/a
42	chr13:110440179-110440229	PrEC	prostate:	n/a
43	chr13:110438288-110438338	GM12878	blood:	n/a
44	chr13:110439004-110439054	GM06990	blood:	n/a
45	chr13:110424497-110424547	HRE	kidney:	n/a
46	chr13:110436740-110436790	Jurkat	blood:	n/a
47	chr13:110438916-110438966	SAEC	small airway:	n/a
48	chr13:110440352-110440402	NHBE	bronchial:	n/a
49	chr13:110439006-110439056	HRE	kidney:	n/a
50	chr13:110440179-110440229	Hepatocyte	liver:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:110395852..110397862-chr13:110423883..110426288,2	K562	blood:
2	chr13:110443809..110446667-chr13:110447479..110449756,2	K562	blood:
3	chr13:110421522..110423213-chr13:110437049..110440164,3	K562	blood:
4	chr13:110347663..110350324-chr13:110443673..110445306,2	K562	blood:
5	chr13:110456902..110459964-chr13:110462988..110465926,5	K562	blood:
6	chr13:110262551..110263536-chr13:110436991..110438083,3	MCF-7	breast:
7	chr13:110336875..110340182-chr13:110433980..110437911,3	K562	blood:
8	chr13:110437956..110438456-chr2:100106242..100106983,2	K562	blood:
9	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
10	chr13:110436747..110437632-chr2:157188777..157189594,2	Hela-S3	cervix:
11	chr13:110443161..110443801-chr7:92076313..92077051,2	NB4	blood:
12	chr13:110443809..110446667-chr13:110447479..110449756,2	K562	blood:
13	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
14	chr13:110439408..110440218-chr17:26368504..26369181,2	Hela-S3	cervix:
15	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
16	chr13:110436751..110439195-chr13:111365292..111367804,2	K562	blood:
17	chr12:52448921..52449564-chr13:110433424..110434327,2	Hela-S3	cervix:
18	chr13:110308109..110310593-chr13:110433626..110436596,2	K562	blood:
19	chr13:110437769..110438360-chr13:111365491..111366397,2	NB4	blood:
20	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
21	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
22	chr13:110437609..110438511-chr2:70520669..70521396,2	Hela-S3	cervix:
23	chr13:110417399..110417917-chr13:110760942..110761494,2	MCF-7	breast:
24	chr13:110455656..110459242-chr13:110460543..110463426,3	MCF-7	breast:
25	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
26	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
27	chr13:110437538..110439483-chr13:110454282..110455861,2	K562	blood:
28	chr13:110430383..110434613-chr13:110438487..110441138,4	MCF-7	breast:
29	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:
30	chr13:110446043..110447587-chr13:110455015..110457725,2	MCF-7	breast:
31	chr13:110457347..110460369-chr13:110462988..110465176,3	K562	blood:
32	chr13:110367353..110370316-chr13:110433831..110435383,2	K562	blood:
33	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
34	chr13:110437931..110439923-chr13:110442337..110443965,2	MCF-7	breast:
35	chr13:110372207..110373827-chr13:110434766..110436789,2	K562	blood:
36	chr13:110348737..110350886-chr13:110432945..110435656,2	K562	blood:
37	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
38	chr13:110438627..110439624-chr2:32502857..32503409,2	NB4	blood:
39	chr13:110443953..110447179-chr13:110758507..110762069,3	MCF-7	breast:
40	chr13:110461237..110464119-chr13:110472435..110474206,2	MCF-7	breast:
41	chr13:109797639..109798548-chr13:110436659..110437260,3	MCF-7	breast:
42	chr13:110394415..110400324-chr13:110434969..110439511,6	K562	blood:
43	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
44	chr13:110421344..110422045-chr7:139043990..139044984,2	Hela-S3	cervix:
45	chr13:110438443..110438962-chr16:2285162..2286129,2	NB4	blood:
46	chr13:110455656..110459242-chr13:110460543..110463426,3	MCF-7	breast:
47	chr13:110439033..110439968-chr7:104653218..104653931,2	NB4	blood:
48	chr13:109611837..109614642-chr13:110445728..110448181,2	MCF-7	breast:
49	chr13:110438522..110439383-chr7:23221250..23222004,2	NB4	blood:
50	chr13:110431371..110432927-chr13:111365497..111367425,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110459404-110459542	NONHSAT035121
2	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120
3	lnc-COL4A2-3	chr13:110439709-110439792	NONHSAT035121
4	lnc-COL4A2-3	chr13:110449278-110449516	NONHSAT035121
5	lnc-COL4A1-5	chr13:110417658-110418068	NONHSAT035118
6	lnc-COL4A1-6	chr13:110407168-110407615	NONHSAT035117
7	lnc-COL4A2-3	chr13:110459260-110459542	XLOC_010495
8	lnc-COL4A2-3	chr13:110433655-110433753	NONHSAT035119
9	lnc-COL4A1-5	chr13:110418461-110418469	NONHSAT035118
10	lnc-COL4A2-3	chr13:110460336-110460349	XLOC_010495
11	lnc-COL4A2-3	chr13:110460336-110460414	NONHSAT035121
12	lnc-COL4A2-3	chr13:110440328-110440912	NONHSAT035119
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-98-5p	chr13:110408197-110408190
4	IRS2	hsa-miR-33a-5p	chr13:110407066-110407086
5	IRS2	hsa-let-7e-5p	chr13:110408191-110408216
6	IRS2	hsa-miR-7-5p	chr13:110406343-110406336
7	IRS2	hsa-let-7e-5p	chr13:110408197-110408190
8	IRS2	hsa-miR-98-5p	chr13:110408191-110408216
9	IRS2	hsa-miR-33a-5p	chr13:110407072-110407065
10	IRS2	hsa-miR-374b-5p	chr13:110407937-110407958
11	IRS2	hsa-miR-7-5p	chr13:110407056-110407080
12	IRS2	hsa-miR-7-5p	chr13:110407062-110407056
13	IRS2	hsa-miR-7-5p	chr13:110406337-110406361
14	IRS2	hsa-let-7b-5p	chr13:110408191-110408210

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

Extended variants
information (count: 2366 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2366 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145332767	chr13:110397735-110397736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571542553	chr13:110397817-110397818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369519569	chr13:110397818-110397819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7336057	chr13:110397944-110397945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559896785	chr13:110397967-110397968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528755052	chr13:110397989-110397990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147662933	chr13:110398018-110398019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562395950	chr13:110398166-110398167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531111935	chr13:110398176-110398177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550934742	chr13:110398230-110398231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570922095	chr13:110398248-110398249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377267891	chr13:110398284-110398285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539554787	chr13:110398316-110398317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7317721	chr13:110398343-110398344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371880122	chr13:110398353-110398354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372622054	chr13:110398368-110398369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113686408	chr13:110398384-110398385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190207303	chr13:110398405-110398406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575189101	chr13:110398435-110398436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528095017	chr13:110398495-110398496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537639834	chr13:110398497-110398498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148750810	chr13:110398499-110398500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577619251	chr13:110398520-110398521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539961762	chr13:110398538-110398539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142338676	chr13:110398552-110398553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573658262	chr13:110398596-110398597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182474454	chr13:110398660-110398661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542679975	chr13:110398665-110398666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185224336	chr13:110398716-110398717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535437845	chr13:110398719-110398720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192430596	chr13:110398730-110398731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533303202	chr13:110398765-110398766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551109792	chr13:110398774-110398775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564536557	chr13:110398775-110398776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539840361	chr13:110398807-110398808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183937340	chr13:110398822-110398823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113094514	chr13:110398842-110398843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566650191	chr13:110398901-110398902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562335558	chr13:110398933-110398934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569799788	chr13:110398955-110398956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535439579	chr13:110398975-110398976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199698099	chr13:110399003-110399004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201856242	chr13:110399005-110399006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201615522	chr13:110399006-110399007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201482753	chr13:110399010-110399011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188933022	chr13:110399041-110399042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568806821	chr13:110399048-110399049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9559639	chr13:110399049-110399050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557892946	chr13:110399069-110399070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571367609	chr13:110399070-110399071	Weak transcription Enhancers	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:2820 , 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	chr13:110396000-110398600	Enhancers	Fetal Heart	heart
6	chr13:110396200-110397800	Enhancers	Fetal Muscle Leg	muscle
7	chr13:110396200-110398800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:110396400-110401200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:110396600-110402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:110396600-110404000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:110396600-110404400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr13:110396600-110404400	Weak transcription	Gastric	stomach
14	chr13:110396600-110407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr13:110396600-110407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:110396600-110411800	Weak transcription	Fetal Kidney	kidney
17	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:110396800-110402800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:110396800-110403000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:110396800-110404400	Weak transcription	Primary T cells from cord blood	blood
23	chr13:110396800-110405800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:110396800-110406600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr13:110396800-110411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr13:110397000-110403400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:110397000-110404200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:110397000-110404400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:110397000-110404600	Weak transcription	Brain Angular Gyrus	brain
31	chr13:110397000-110405000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:110397000-110405400	Weak transcription	Hela-S3	cervix
33	chr13:110397000-110405600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:110397000-110406200	Weak transcription	NHDF-Ad	bronchial
35	chr13:110397000-110407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr13:110397000-110407400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr13:110397000-110407800	Weak transcription	Fetal Thymus	thymus
38	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:110397200-110402800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:110397200-110404400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:110397200-110404400	Weak transcription	Brain Germinal Matrix	brain
43	chr13:110397200-110406600	Weak transcription	NH-A	brain
44	chr13:110397200-110407400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:110397200-110407800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:110397200-110408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr13:110397200-110411400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:110397200-110430400	Weak transcription	NHLF	lung
49	chr13:110397400-110399800	Weak transcription	A549	lung
50	chr13:110397400-110402800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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