Variant report

Variant	nsv1044243
Chromosome Location	chr11:5401036-5432316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:5401821-5401831	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr11:5410351-5410419	K562	blood:	n/a	n/a
3	CEBPB	chr11:5401412-5401568	K562	blood:	n/a	n/a
4	CTCF	chr11:5411520-5411670	GM12864	blood:	n/a	n/a
5	CTCF	chr11:5402100-5402250	K562	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
6	CTCF	chr11:5402077-5402281	Pancreas_OC	pancreas:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
7	CTCF	chr11:5402100-5402250	SK-N-SH_RA	brain:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
8	CTCF	chr11:5402080-5402230	NHDF-neo	bronchial:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
9	CTCF	chr11:5402120-5402270	GM12867	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
10	CTCF	chr11:5406671-5406739	Lung_OC	lung:	n/a	n/a
11	CTCF	chr11:5401933-5402390	IMR90	lung:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
12	CTCF	chr11:5402080-5402230	HFF-Myc	foreskin:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
13	CTCF	chr11:5402100-5402250	AG09319	gingival:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
14	CTCF	chr11:5402100-5402250	GM12865	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
15	CTCF	chr11:5402053-5402288	MCF-7	breast:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
16	CTCF	chr11:5402120-5402270	GM12870	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
17	CTCF	chr11:5411560-5411710	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr11:5402100-5402250	HRPEpiC	eye:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
19	CTCF	chr11:5402100-5402250	HCPEpiC	choroid plexus:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
20	CTCF	chr11:5402440-5402590	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr11:5411540-5411690	GM12867	blood:	n/a	n/a
22	CTCF	chr11:5402080-5402230	HCT-116	colon:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
23	CTCF	chr11:5402016-5402270	T-47D	breast:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
24	CTCF	chr11:5402120-5402270	HMEC	breast:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
25	CTCF	chr11:5402026-5402302	ECC-1	luminal epithelium:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
26	CTCF	chr11:5402080-5402230	HPAF	blood vessel:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
27	CTCF	chr11:5411480-5411630	A549	lung:	n/a	n/a
28	CTCF	chr11:5402120-5402270	GM12868	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
29	CTCF	chr11:5402100-5402250	GM12869	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
30	CTCF	chr11:5402100-5402250	HEEpiC	esophagus:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
31	CTCF	chr11:5402080-5402230	HEK293	kidney:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
32	CTCF	chr11:5402080-5402230	SAEC	small airway:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
33	CTCF	chr11:5402180-5402330	WI-38	lung:	n/a	n/a
34	CTCF	chr11:5411520-5411670	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr11:5402080-5402230	GM12864	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
36	CTCF	chr11:5402120-5402270	GM12878	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
37	CTCF	chr11:5411540-5411690	GM12869	blood:	n/a	n/a
38	CTCF	chr11:5411540-5411690	GM12875	blood:	n/a	n/a
39	CTCF	chr11:5411540-5411690	GM12872	blood:	n/a	n/a
40	CTCF	chr11:5401951-5402291	T-47D	breast:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
41	CTCF	chr11:5402120-5402270	HA-sp	spinal cord:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
42	CTCF	chr11:5402060-5402210	GM12868	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
43	CTCF	chr11:5401864-5402439	K562	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
44	CTCF	chr11:5402030-5402316	LNCaP	prostate:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
45	CTCF	chr11:5411500-5411650	GM12864	blood:	n/a	n/a
46	CTCF	chr11:5402060-5402210	GM12875	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
47	CTCF	chr11:5402030-5402281	GM12891	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
48	CTCF	chr11:5402120-5402270	K562	blood:	n/a	chr11:5402153-5402174 chr11:5402159-5402175 chr11:5402161-5402171 chr11:5402164-5402173 chr11:5402158-5402176 chr11:5402160-5402173
49	CTCF	chr11:5411340-5411490	GM12871	blood:	n/a	n/a
50	CTCF	chr11:5411520-5411670	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5408788-5408838	CMK	blood:	n/a
2	chr11:5410452-5410502	HRE	kidney:	n/a
3	chr11:5408788-5408838	PrEC	prostate:	n/a
4	chr11:5408788-5408838	H1-hESC	embryonic stem cell:	embryo
5	chr11:5410053-5410103	HEK293	kidney:	embryo
6	chr11:5410452-5410502	ovcar-3	ovarian:	n/a
7	chr11:5408788-5408838	Caco-2	colon:	n/a
8	chr11:5408788-5408838	HEEpiC	esophagus:	n/a
9	chr11:5410053-5410103	NHBE	bronchial:	n/a
10	chr11:5410452-5410502	MCF-7	breast:	n/a
11	chr11:5408788-5408838	SK-N-SH_RA	brain:	n/a
12	chr11:5410053-5410103	NHDF-neo	bronchial:	n/a
13	chr11:5410053-5410103	MCF10A-Er-Src	breast:	n/a
14	chr11:5410053-5410103	Jurkat	blood:	n/a
15	chr11:5410053-5410103	Caco-2	colon:	n/a
16	chr11:5410452-5410502	NHDF-neo	bronchial:	n/a
17	chr11:5408788-5408838	GM06990	blood:	n/a
18	chr11:5410452-5410502	HRPEpiC	eye:	n/a
19	chr11:5410452-5410502	AG09309	skin:	n/a
20	chr11:5410452-5410502	PANC-1	pancreas:	n/a
21	chr11:5410452-5410502	HCF	heart:	n/a
22	chr11:5408788-5408838	HEK293	kidney:	embryo
23	chr11:5410053-5410103	T-47D	breast:	n/a
24	chr11:5410053-5410103	ProgFib	skin:	n/a
25	chr11:5410053-5410103	SK-N-SH	brain:	n/a
26	chr11:5408788-5408838	T-47D	breast:	n/a
27	chr11:5410452-5410502	H1-hESC	embryonic stem cell:	embryo
28	chr11:5408788-5408838	ECC-1	luminal epithelium:	n/a
29	chr11:5408788-5408838	HCT-116	colon:	n/a
30	chr11:5410452-5410502	IMR90	lung:	fetal
31	chr11:5410053-5410103	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:5410053-5410103	BJ	skin:	n/a
33	chr11:5410452-5410502	MCF10A-Er-Src	breast:	n/a
34	chr11:5410452-5410502	AG09319	gingival:	n/a
35	chr11:5410053-5410103	AG04450	lung:	fetal
36	chr11:5408788-5408838	LNCaP	prostate:	n/a
37	chr11:5408788-5408838	NB4	blood:	n/a
38	chr11:5408788-5408838	SAEC	small airway:	n/a
39	chr11:5410452-5410502	HCT-116	colon:	n/a
40	chr11:5410452-5410502	SK-N-SH_RA	brain:	n/a
41	chr11:5408788-5408838	Hepatocyte	liver:	n/a
42	chr11:5408788-5408838	AG10803	skin:	n/a
43	chr11:5408788-5408838	BE2_C	brain:	n/a
44	chr11:5410053-5410103	HIPEpiC	eye:	n/a
45	chr11:5408788-5408838	HRCEpiC	kidney:	n/a
46	chr11:5410053-5410103	HL-60	blood:	n/a
47	chr11:5410053-5410103	NT2-D1	testis:	n/a
48	chr11:5410452-5410502	Caco-2	colon:	n/a
49	chr11:5408788-5408838	HCM	heart:	n/a
50	chr11:5408788-5408838	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5421776-5424121..11:5425882-5426881	GM12878	blood:
2	chr11:5403286..5405023-chr11:5406097..5408561,2	K562	blood:
3	11:5243048-5250847..11:5425882-5426881	GM12878	blood:
4	11:5243048-5250847..11:5398331-5406514	H1-hESC	embryonic stem cell:	embryo
5	chr11:5403316..5405023-chr11:5406492..5408561,2	K562	blood:
6	11:5018576-5020673..11:5398331-5406514	H1-hESC	embryonic stem cell:	embryo
7	11:5398331-5406514..11:5707362-5712027	K562	blood:
8	11:5218976-5222789..11:5398331-5406514	GM12878	blood:
9	11:4778081-4789138..11:5398331-5406514	Hela-S3	cervix:
10	11:5398331-5406514..11:5700314-5707362	GM12878	blood:
11	chr11:5405070..5407795-chr11:5524807..5526877,2	K562	blood:
12	chr11:5413872..5415694-chr11:5419975..5421750,2	K562	blood:
13	11:5250847-5268367..11:5406514-5407716	Hela-S3	cervix:
14	chr11:5403316..5405023-chr11:5406492..5408561,2	K562	blood:
15	chr11:5145037..5145858-chr11:5401710..5402214,2	MCF-7	breast:
16	11:5218976-5222789..11:5425882-5426881	GM12878	blood:
17	chr11:5404523..5406570-chr11:5525377..5527235,2	K562	blood:
18	11:5398331-5406514..11:5527719-5533869	H1-hESC	embryonic stem cell:	embryo
19	chr11:5402054..5402614-chr11:5441811..5442439,2	MCF-7	breast:
20	chr11:5145230..5145917-chr11:5402049..5402594,2	MCF-7	breast:
21	chr11:5403286..5405023-chr11:5406097..5408561,2	K562	blood:
22	11:5146608-5154908..11:5398331-5406514	GM12878	blood:
23	chr11:5225752..5226648-chr11:5401460..5402799,4	MCF-7	breast:
24	chr11:5402164..5402741-chr11:5497230..5497968,2	MCF-7	breast:
25	11:5250847-5268367..11:5398331-5406514	Hela-S3	cervix:
26	chr11:5145386..5146091-chr11:5401599..5402243,2	K562	blood:
27	chr11:5415584..5416428-chr20:41864268..41865032,2	MCF-7	breast:
28	11:4778081-4789138..11:5425882-5426881	H1-hESC	embryonic stem cell:	embryo
29	chr11:5413872..5415694-chr11:5419975..5421750,2	K562	blood:

Variant related genes	Relation type
OR51M1	TF binding region
OR51J1	TF binding region
OR51M1	CpG island
OR51J1	CpG island
ENSG00000229988	chromatin interactions
ENSG00000213931	chromatin interactions
ENSG00000224091	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000184321	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000196565	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000171944	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000176798	chromatin interactions
ENSG00000205494	chromatin interactions
ENSG00000176742	chromatin interactions

Extended variants
information (count: 1781 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1781 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11604201	chr11:5401036-5401037	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189235012	chr11:5401071-5401072	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs531941999	chr11:5401072-5401073	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs191779217	chr11:5401073-5401074	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs571632543	chr11:5401080-5401081	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs538888116	chr11:5401106-5401107	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs114008485	chr11:5401110-5401111	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs138569800	chr11:5401157-5401158	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs558821057	chr11:5401162-5401163	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs74729478	chr11:5401168-5401169	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs536391313	chr11:5401172-5401173	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs75702318	chr11:5401173-5401174	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs576112338	chr11:5401219-5401220	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs537265959	chr11:5401220-5401221	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs539851978	chr11:5401227-5401228	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs149974846	chr11:5401229-5401230	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs374663848	chr11:5401230-5401231	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs10694400	chr11:5401231-5401232	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs371658345	chr11:5401232-5401233	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs2736544	chr11:5401260-5401261	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs541018884	chr11:5401275-5401276	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs184284699	chr11:5401320-5401321	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs143962736	chr11:5401358-5401359	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs543526229	chr11:5401363-5401364	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs141929586	chr11:5401370-5401371	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs71050491	chr11:5401374-5401375	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs541519989	chr11:5401376-5401377	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs563414965	chr11:5401377-5401378	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs2647545	chr11:5401397-5401398	Strong transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs569062855	chr11:5401416-5401417	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs117950350	chr11:5401417-5401418	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs147302894	chr11:5401425-5401426	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs188232161	chr11:5401427-5401428	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs565886277	chr11:5401449-5401450	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs536655839	chr11:5401455-5401456	Strong transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs34544352	chr11:5401465-5401466	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs180746892	chr11:5401468-5401469	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs548359063	chr11:5401506-5401507	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs10837950	chr11:5401510-5401511	Strong transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139097989	chr11:5401511-5401512	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs186087700	chr11:5401520-5401521	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs570757471	chr11:5401526-5401527	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs143111294	chr11:5401574-5401575	Strong transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs553314300	chr11:5401634-5401635	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs113414732	chr11:5401635-5401636	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs541835049	chr11:5401671-5401672	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs113124197	chr11:5401675-5401676	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs528355575	chr11:5401677-5401678	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs190217744	chr11:5401692-5401693	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs139246800	chr11:5401744-5401745	Strong transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5401000-5404400	Strong transcription	K562	blood
2	chr11:5402400-5405000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5404400-5407400	Weak transcription	K562	blood
4	chr11:5404600-5405400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:5404600-5405600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:5404600-5406000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:5404600-5406400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:5404800-5405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:5405000-5405400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:5405000-5405400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:5405000-5405400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:5405000-5405400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:5405000-5405800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:5405000-5405800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:5405000-5405800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:5405000-5406000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:5405400-5406800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:5405400-5408400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:5405400-5408600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:5405600-5408600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:5405800-5408400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:5405800-5408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:5406000-5408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:5406000-5410200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:5406800-5408600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:5407400-5409200	Strong transcription	K562	blood
27	chr11:5408400-5410200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:5408400-5410200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:5408400-5410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr11:5408600-5409600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:5408600-5410000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:5408600-5410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:5408800-5410600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:5409200-5410600	Weak transcription	K562	blood
35	chr11:5409600-5412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:5410200-5410400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:5410600-5412600	Strong transcription	K562	blood
38	chr11:5411200-5411400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:5412200-5412400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:5412600-5415000	Weak transcription	K562	blood
41	chr11:5415000-5417000	Strong transcription	K562	blood
42	chr11:5415800-5417000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:5417000-5417400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:5417000-5420000	Weak transcription	K562	blood
45	chr11:5417400-5420800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:5420000-5423000	Strong transcription	K562	blood
47	chr11:5420800-5421000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:5422000-5422200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:5423000-5424200	Weak transcription	K562	blood
50	chr11:5424200-5425800	Strong transcription	K562	blood

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