Variant report

Variant	rs66525543
Chromosome Location	chr5:54151163-54151164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr5:54151079-54151306	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr5:54151068-54151373	HL-60	blood:	n/a	n/a
3	REST	chr5:54151042-54151289	Hela-S3	cervix:	n/a	n/a
4	REST	chr5:54151018-54151360	PANC-1	pancreas:	n/a	n/a
5	REST	chr5:54151072-54151326	SK-N-SH	brain:	n/a	n/a
6	REST	chr5:54151118-54151256	HepG2	liver:	n/a	n/a
7	REST	chr5:54151027-54151374	U87	brain:	n/a	n/a
8	REST	chr5:54151031-54151396	HCT-116	colon:	n/a	n/a
9	REST	chr5:54151066-54151270	PFSK-1	brain:	n/a	n/a
10	FOXA1	chr5:54151041-54151274	T-47D	breast:	n/a	n/a
11	REST	chr5:54151061-54151298	HepG2	liver:	n/a	n/a
12	REST	chr5:54151026-54151404	MCF-7	breast:	n/a	n/a
13	REST	chr5:54150985-54151483	PFSK-1	brain:	n/a	n/a
14	REST	chr5:54151159-54151242	HepG2	liver:	n/a	n/a
15	REST	chr5:54151003-54151461	HL-60	blood:	n/a	n/a
16	REST	chr5:54151143-54151256	GM12878	blood:	n/a	n/a
17	REST	chr5:54150961-54151398	Hela-S3	cervix:	n/a	n/a
18	REST	chr5:54151103-54151371	PANC-1	pancreas:	n/a	n/a
19	REST	chr5:54150990-54151378	SK-N-SH	brain:	n/a	n/a
20	REST	chr5:54151145-54151302	PANC-1	pancreas:	n/a	n/a
21	REST	chr5:54150968-54151338	PFSK-1	brain:	n/a	n/a
22	REST	chr5:54150949-54151454	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr5:54151070-54151325	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr5:54150964-54151305	K562	blood:	n/a	n/a
25	REST	chr5:54150973-54151387	MCF-7	breast:	n/a	n/a
26	REST	chr5:54150949-54151480	ECC-1	luminal epithelium:	n/a	n/a
27	REST	chr5:54151090-54151297	PFSK-1	brain:	n/a	n/a
28	REST	chr5:54151027-54151372	U87	brain:	n/a	n/a
29	REST	chr5:54151024-54151281	HepG2	liver:	n/a	n/a
30	REST	chr5:54151073-54151264	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54147700..54150094-chr5:54150454..54152173,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226810	TF binding region
ENSG00000221073	TF binding region
ENSG00000221073	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13156560	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13173142	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13183019	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13183813	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34211924	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34503985	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34563029	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34619620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34728968	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35046115	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35409466	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35805787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35839938	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35985754	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36000196	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36009662	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3935814	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3935815	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4301189	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4565175	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55903850	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66928876	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66955270	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67500010	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7733091	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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