Variant report

Variant	rs9544123
Chromosome Location	chr13:76593536-76593537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr13:76593529-76593747	GM12878	blood:	n/a	n/a
2	KAP1	chr13:76593466-76593888	U2OS	brain:	n/a	n/a
3	CTCF	chr13:76593532-76593775	SK-N-SH_RA	brain:	n/a	n/a
4	ZNF143	chr13:76593515-76593827	GM12878	blood:	n/a	n/a
5	CTCF	chr13:76593480-76593860	GM12878	blood:	n/a	n/a
6	RAD21	chr13:76593528-76593898	ECC-1	luminal epithelium:	n/a	n/a
7	RAD21	chr13:76593474-76593923	MCF-7	breast:	n/a	n/a
8	ZNF143	chr13:76593499-76593882	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr13:76593412-76593954	A549	lung:	n/a	n/a
10	CTCF	chr13:76593523-76593760	A549	lung:	n/a	n/a
11	RAD21	chr13:76593526-76593847	HepG2	liver:	n/a	n/a
12	RAD21	chr13:76593494-76593851	HepG2	liver:	n/a	n/a
13	RAD21	chr13:76593439-76593934	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr13:76593536-76593813	HEK293	kidney:	n/a	n/a
15	RAD21	chr13:76593468-76593931	HepG2	liver:	n/a	n/a
16	RAD21	chr13:76593533-76593914	HCT-116	colon:	n/a	n/a
17	CTCF	chr13:76593531-76593783	HepG2	liver:	n/a	n/a
18	CEBPB	chr13:76593409-76593815	HepG2	liver:	n/a	n/a
19	CTCF	chr13:76593217-76594169	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr13:76593520-76593670	SAEC	small airway:	n/a	n/a
21	RAD21	chr13:76593431-76593906	SK-N-SH_RA	brain:	n/a	n/a
22	RAD21	chr13:76593425-76593855	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMC3	chr13:76593319-76594079	SK-N-SH	brain:	n/a	n/a
24	MAX	chr13:76593428-76593908	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr13:76593457-76593862	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr13:76593480-76593770	HCM	heart:	n/a	n/a
27	CTCF	chr13:76593517-76593888	MCF-7	breast:	n/a	n/a
28	RAD21	chr13:76593498-76593811	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr13:76593469-76593846	MCF-7	breast:	n/a	n/a
30	CTCF	chr13:76593335-76593948	A549	lung:	n/a	n/a
31	RAD21	chr13:76593485-76593890	A549	lung:	n/a	n/a
32	CTCF	chr13:76593482-76593857	HepG2	liver:	n/a	n/a
33	MAX	chr13:76593474-76593805	NB4	blood:	n/a	n/a
34	CTCF	chr13:76593489-76593860	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr13:76593135-76594037	SK-N-SH	brain:	n/a	n/a
36	RAD21	chr13:76593466-76593891	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr13:76593525-76593809	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76444149..76445101-chr13:76593232..76594146,4	MCF-7	breast:

No data

Variant related genes	Relation type
LINC01034	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1461987	0.84[EUR][1000 genomes]
rs2126356	0.82[EUR][1000 genomes]
rs4884030	0.82[EUR][1000 genomes]
rs7490790	0.81[EUR][1000 genomes]
rs9544125	0.83[EUR][1000 genomes]
rs9544128	0.91[EUR][1000 genomes]
rs9565218	0.87[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs9565219	0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1054431	chr13:76460431-76885094	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541837	chr13:76460431-76885094	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76584600-76593800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:76589400-76593600	Weak transcription	Aorta	Aorta
3	chr13:76589400-76593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:76589400-76601400	Weak transcription	K562	blood
5	chr13:76589800-76594000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:76589800-76594800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:76589800-76594800	Weak transcription	HMEC	breast
8	chr13:76589800-76596800	Weak transcription	Fetal Lung	lung
9	chr13:76592600-76593800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:76593200-76595200	Enhancers	Brain Hippocampus Middle	brain
11	chr13:76593200-76595200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:76593400-76593600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:76593400-76593600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:76593400-76593600	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr13:76593400-76593800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:76593400-76594000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:76593400-76595200	Enhancers	Brain Angular Gyrus	brain

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