Variant report

Variant	rs7395419
Chromosome Location	chr11:45309171-45309172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:45308971-45309364	A549	lung:	n/a	n/a
2	SETDB1	chr11:45308766-45309250	U2OS	brain:	n/a	n/a
3	REST	chr11:45308947-45309536	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr11:45308997-45309532	ECC-1	luminal epithelium:	n/a	n/a
5	REST	chr11:45309078-45309440	Hela-S3	cervix:	n/a	n/a
6	REST	chr11:45309053-45309429	PANC-1	pancreas:	n/a	n/a
7	REST	chr11:45309150-45309298	K562	blood:	n/a	n/a
8	REST	chr11:45309051-45309371	Hela-S3	cervix:	n/a	n/a
9	REST	chr11:45309050-45309388	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:45309101-45309355	NB4	blood:	n/a	n/a
11	REST	chr11:45309132-45309347	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr11:45309043-45309382	PFSK-1	brain:	n/a	n/a
13	REST	chr11:45309057-45309467	HL-60	blood:	n/a	n/a
14	REST	chr11:45309121-45309369	K562	blood:	n/a	n/a
15	REST	chr11:45308981-45309472	HL-60	blood:	n/a	n/a
16	REST	chr11:45309033-45309452	MCF-7	breast:	n/a	n/a
17	REST	chr11:45309077-45309358	GM12878	blood:	n/a	n/a
18	REST	chr11:45309124-45309374	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45305084..45308064-chr11:45308692..45311186,2	K562	blood:

No data

Variant related genes	Relation type
SYT13	TF binding region
ENSG00000019505	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1075778	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769133	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769134	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769135	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1077490	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1077491	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10838437	0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10838438	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11038360	0.87[JPT][hapmap]
rs11038372	0.88[ASN][1000 genomes]
rs11038382	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038384	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11604409	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12363398	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12363412	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2863176	0.86[JPT][hapmap]
rs2863178	0.86[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs2863181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2863182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2902429	0.82[ASN][1000 genomes]
rs2902433	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34191816	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4556529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4556531	0.86[JPT][hapmap]
rs4755306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755943	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4992029	0.85[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6485603	0.86[JPT][hapmap]
rs6485605	0.84[ASN][1000 genomes]
rs6485607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6485608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485609	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110580	0.86[JPT][hapmap]
rs7114339	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7117240	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7118844	0.81[EUR][1000 genomes]
rs7123438	0.81[EUR][1000 genomes]
rs7123698	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123765	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127746	0.87[JPT][hapmap]
rs7130748	0.81[EUR][1000 genomes]
rs7131174	0.81[EUR][1000 genomes]
rs731102	0.84[JPT][hapmap]
rs7395289	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7395357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480175	0.81[EUR][1000 genomes]
rs751196	0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7943596	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8929	0.86[JPT][hapmap]
rs9300051	0.86[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7395419	SYT13	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45308400-45311200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:45308800-45312400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:45309000-45309200	ZNF genes & repeats	Lung	lung

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