Variant report

Variant	rs1487474
Chromosome Location	chr10:55213097-55213098
allele	A/T
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	CTCF	chr10:55213080-55213230	HepG2	liver:	n/a	chr10:55213102-55213110
2	CTCF	chr10:55213080-55213230	GM12878	blood:	n/a	chr10:55213102-55213110
3	CTCF	chr10:55213066-55213260	MCF-7	breast:	n/a	chr10:55213102-55213110
4	CTCF	chr10:55213000-55213150	HMEC	breast:	n/a	chr10:55213102-55213110
5	CTCF	chr10:55213080-55213230	MCF-7	breast:	n/a	chr10:55213102-55213110
6	RAD21	chr10:55213051-55213248	SK-N-SH_RA	brain:	n/a	n/a
7	RAD21	chr10:55212908-55213325	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr10:55213040-55213190	Caco-2	colon:	n/a	chr10:55213102-55213110
9	CTCF	chr10:55213064-55213243	HepG2	liver:	n/a	chr10:55213102-55213110
10	CTCF	chr10:55213060-55213210	GM12870	blood:	n/a	chr10:55213102-55213110
11	CTCF	chr10:55213049-55213215	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
12	CTCF	chr10:55213060-55213210	HEK293	kidney:	n/a	chr10:55213102-55213110
13	CTCF	chr10:55213080-55213230	HEEpiC	esophagus:	n/a	chr10:55213102-55213110
14	CTCF	chr10:55213060-55213210	GM12865	blood:	n/a	chr10:55213102-55213110
15	CTCF	chr10:55213060-55213210	AG04450	lung:	n/a	chr10:55213102-55213110
16	CTCF	chr10:55213077-55213241	GM12878	blood:	n/a	chr10:55213102-55213110
17	CTCF	chr10:55213093-55213177	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
18	CTCF	chr10:55212963-55213275	HepG2	liver:	n/a	chr10:55213102-55213110
19	RAD21	chr10:55212980-55213334	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr10:55213080-55213230	HPAF	blood vessel:	n/a	chr10:55213102-55213110
21	CTCF	chr10:55213060-55213210	SAEC	small airway:	n/a	chr10:55213102-55213110
22	CTCF	chr10:55213060-55213210	HRPEpiC	eye:	n/a	chr10:55213102-55213110
23	CTCF	chr10:55213040-55213190	HPF	lung:	n/a	chr10:55213102-55213110
24	CTCF	chr10:55213060-55213210	SK-N-SH_RA	brain:	n/a	chr10:55213102-55213110
25	CTCF	chr10:55213093-55213215	LNCaP	prostate:	n/a	chr10:55213102-55213110
26	ZNF143	chr10:55213023-55213283	GM12878	blood:	n/a	n/a
27	CTCF	chr10:55213063-55213254	HUVEC	blood vessel:	n/a	chr10:55213102-55213110
28	CTCF	chr10:55212976-55213339	GM12878	blood:	n/a	chr10:55213102-55213110
29	CTCF	chr10:55213080-55213230	GM12865	blood:	n/a	chr10:55213102-55213110
30	CTCF	chr10:55213040-55213190	RPTEC	kidney:	n/a	chr10:55213102-55213110
31	CTCF	chr10:55213060-55213210	HPF	lung:	n/a	chr10:55213102-55213110
32	CTCF	chr10:55213075-55213236	MCF-7	breast:	n/a	chr10:55213102-55213110
33	RAD21	chr10:55213056-55213287	HepG2	liver:	n/a	n/a
34	CTCF	chr10:55213060-55213210	GM12869	blood:	n/a	chr10:55213102-55213110
35	E2F4	chr10:55213013-55213442	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr10:55213080-55213230	Caco-2	colon:	n/a	chr10:55213102-55213110
37	CTCF	chr10:55213080-55213230	GM12869	blood:	n/a	chr10:55213102-55213110
38	CTCF	chr10:55213097-55213196	GM10266	blood:	n/a	chr10:55213102-55213110
39	CTCF	chr10:55213060-55213210	WERI-Rb-1	eye:	n/a	chr10:55213102-55213110
40	CTCF	chr10:55213075-55213175	LNCaP	prostate:	n/a	chr10:55213102-55213110
41	CTCF	chr10:55213080-55213230	HMEC	breast:	n/a	chr10:55213102-55213110
42	CTCF	chr10:55212980-55213130	HAc	cerebellar:	n/a	chr10:55213102-55213110
43	CTCF	chr10:55212932-55213345	MCF-7	breast:	n/a	chr10:55213102-55213110
44	CTCF	chr10:55213051-55213209	HepG2	liver:	n/a	chr10:55213102-55213110
45	CTCF	chr10:55213060-55213210	GM12871	blood:	n/a	chr10:55213102-55213110
46	CTCF	chr10:55213080-55213230	A549	lung:	n/a	chr10:55213102-55213110
47	CTCF	chr10:55213085-55213241	Hela-S3	cervix:	n/a	chr10:55213102-55213110
48	RAD21	chr10:55212921-55213298	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr10:55213000-55213150	HEEpiC	esophagus:	n/a	chr10:55213102-55213110
50	CTCF	chr10:55213093-55213166	Medullo	brain:	n/a	chr10:55213102-55213110

Variant related genes	Relation type
RNA5SP318	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10740548	0.91[ASN][1000 genomes]
rs10740549	0.88[ASN][1000 genomes]
rs12415407	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16937442	0.82[EUR][1000 genomes]
rs16937443	0.82[EUR][1000 genomes]
rs16937445	0.82[EUR][1000 genomes]
rs16937446	0.82[EUR][1000 genomes]
rs17620281	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17620381	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17693434	0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2891463	0.81[EUR][1000 genomes]
rs351833	0.80[EUR][1000 genomes]
rs365640	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs453818	0.80[EUR][1000 genomes]
rs4935438	0.91[ASN][1000 genomes]
rs4935440	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61859822	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7075123	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7081251	0.80[EUR][1000 genomes]
rs7085036	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7903405	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752952	chr10:54900994-55497594	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1041908	chr10:55003164-55283251	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv540629	chr10:55003164-55283251	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1040943	chr10:55040577-55279797	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv540630	chr10:55040577-55279797	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1037480	chr10:55102814-55289571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2750963	chr10:55150127-55237139	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2755889	chr10:55150173-55278481	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1048399	chr10:55151470-55313737	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2756288	chr10:55169541-55237139	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1044282	chr10:55186501-55516392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv540631	chr10:55186501-55516392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1043501	chr10:55186701-55516253	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv540632	chr10:55186701-55516253	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1050323	chr10:55190079-55546575	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv523436	chr10:55198707-55252076	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55213000-55213600	Enhancers	HUES64 Cell Line	embryonic stem cell

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