Variant report

Variant	rs11619503
Chromosome Location	chr13:49343160-49343161
allele	A/G
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	RAD21	chr13:49343160-49343897	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr13:49343145-49343684	ECC-1	luminal epithelium:	n/a	chr13:49343448-49343469
3	CTCF	chr13:49343052-49343880	HCT-116	colon:	n/a	chr13:49343448-49343469
4	SMC3	chr13:49343032-49344307	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr13:49343077-49343742	MCF-7	breast:	n/a	chr13:49343448-49343469
6	CTCF	chr13:49343150-49343665	H1-hESC	embryonic stem cell:	n/a	chr13:49343448-49343469
7	RAD21	chr13:49342985-49343843	HCT-116	colon:	n/a	n/a
8	SMC3	chr13:49343157-49343733	HepG2	liver:	n/a	n/a
9	RAD21	chr13:49343019-49343859	HCT-116	colon:	n/a	n/a
10	EP300	chr13:49343080-49343526	HepG2	liver:	n/a	n/a
11	GATA3	chr13:49343046-49343289	SH-SY5Y	brain:	n/a	n/a
12	CTCF	chr13:49342866-49344007	HCT-116	colon:	n/a	chr13:49343448-49343469
13	RAD21	chr13:49343112-49343775	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr13:49343087-49343692	A549	lung:	n/a	chr13:49343448-49343469
15	CTCF	chr13:49342592-49344102	SK-N-SH	brain:	n/a	chr13:49343448-49343469
16	TCF7L2	chr13:49343149-49343506	PANC-1	pancreas:	n/a	n/a
17	CTCF	chr13:49343129-49343754	MCF-7	breast:	n/a	chr13:49343448-49343469
18	RAD21	chr13:49343084-49343743	HepG2	liver:	n/a	n/a
19	RAD21	chr13:49343077-49343702	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr13:49342963-49343781	HepG2	liver:	n/a	chr13:49343448-49343469
21	RAD21	chr13:49343150-49343802	A549	lung:	n/a	n/a
22	MYBL2	chr13:49343140-49343696	HepG2	liver:	n/a	n/a
23	STAT3	chr13:49343098-49343570	GM12878	blood:	n/a	n/a
24	RAD21	chr13:49343072-49343797	IMR90	lung:	n/a	n/a
25	CEBPB	chr13:49343101-49343662	A549	lung:	n/a	n/a
26	RAD21	chr13:49343111-49343760	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr13:49343128-49343605	T-47D	breast:	n/a	chr13:49343448-49343469
28	FOXM1	chr13:49343151-49343676	GM12878	blood:	n/a	n/a
29	SMC3	chr13:49343114-49343839	Hela-S3	cervix:	n/a	n/a
30	FOXM1	chr13:49343158-49343712	GM12878	blood:	n/a	n/a
31	CTCF	chr13:49343118-49343750	IMR90	lung:	n/a	chr13:49343448-49343469
32	SMC3	chr13:49343088-49343710	GM12878	blood:	n/a	n/a
33	RAD21	chr13:49343158-49343703	MCF-7	breast:	n/a	n/a
34	KAP1	chr13:49343077-49343641	HEK293	kidney:	n/a	n/a
35	RAD21	chr13:49343091-49343735	ECC-1	luminal epithelium:	n/a	n/a
36	RAD21	chr13:49342872-49343943	SK-N-SH	brain:	n/a	n/a
37	RAD21	chr13:49343148-49343678	SK-N-SH_RA	brain:	n/a	n/a
38	RAD21	chr13:49343141-49343768	MCF-7	breast:	n/a	n/a
39	CTCF	chr13:49343090-49343676	K562	blood:	n/a	chr13:49343448-49343469
40	RAD21	chr13:49343136-49343716	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr13:49343113-49343617	Lung_OC	lung:	n/a	chr13:49343448-49343469
42	CTCF	chr13:49342990-49343874	A549	lung:	n/a	chr13:49343448-49343469
43	RAD21	chr13:49343131-49343785	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:48700764..48701721-chr13:49342977..49343886,4	K562	blood:
2	chr13:49305851..49306691-chr13:49342839..49343554,2	MCF-7	breast:
3	chr13:49342669..49345130-chr13:49347475..49349741,3	K562	blood:
4	chr13:49169501..49170445-chr13:49342944..49343864,14	MCF-7	breast:
5	chr13:48908385..48909298-chr13:49342938..49343582,2	MCF-7	breast:
6	chr13:49169482..49170418-chr13:49342940..49343870,6	K562	blood:
7	chr13:49323521..49324509-chr13:49342836..49343780,6	MCF-7	breast:
8	chr13:47337286..47337846-chr13:49343111..49343875,2	MCF-7	breast:
9	chr13:49169339..49170769-chr13:49342414..49344167,53	MCF-7	breast:
10	chr13:49323717..49324650-chr13:49343067..49343837,2	K562	blood:
11	chr13:49342359..49344964-chr13:49345478..49349332,4	K562	blood:
12	chr13:49217399..49217979-chr13:49342910..49343628,2	MCF-7	breast:

Variant related genes	Relation type
PSME2P2	TF binding region
ENSG00000225131	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1025236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429873	0.94[EUR][1000 genomes]
rs12583213	1.00[ASN][1000 genomes]
rs12583426	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12585139	0.93[ASN][1000 genomes]
rs57124495	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57850097	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73480207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73480217	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73480257	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73482295	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs746030	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7999498	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49342800-49343600	Enhancers	Dnd41	blood
2	chr13:49343000-49343200	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr13:49343000-49343400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:49343000-49343400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr13:49343000-49343600	Enhancers	Brain Hippocampus Middle	brain
6	chr13:49343000-49343600	Enhancers	Stomach Mucosa	stomach
7	chr13:49343000-49343800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49343000-49344400	Enhancers	Hela-S3	cervix

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