Variant report

Variant	rs62308868
Chromosome Location	chr4:88164957-88164958
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:88164564-88165054	U2OS	brain:	n/a	n/a
2	SETDB1	chr4:88163273-88165183	U2OS	brain:	n/a	n/a
3	TRIM28	chr4:88164438-88165030	K562	blood:	n/a	n/a
4	POLR2A	chr4:88164542-88164991	HL-60	blood:	n/a	n/a
5	KAP1	chr4:88164470-88165108	HEK293	kidney:	n/a	n/a
6	CBX3	chr4:88164514-88165008	K562	blood:	n/a	n/a
7	SETDB1	chr4:88163430-88165221	K562	blood:	n/a	n/a
8	RCOR1	chr4:88164481-88164995	IMR90	lung:	n/a	n/a
9	TCF12	chr4:88164436-88165020	A549	lung:	n/a	n/a
10	CBX3	chr4:88164535-88165022	HCT-116	colon:	n/a	n/a
11	USF1	chr4:88164664-88164967	K562	blood:	n/a	n/a
12	CBX3	chr4:88164520-88164993	HCT-116	colon:	n/a	n/a
13	JUN	chr4:88164527-88165020	K562	blood:	n/a	n/a
14	KAP1	chr4:88164127-88165215	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	chr4:88155381..88158315-chr4:88163823..88166228,2	K562	blood:

No data

Variant related genes	Relation type
KLHL8	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11723697	0.86[ASN][1000 genomes]
rs11724713	0.86[ASN][1000 genomes]
rs11726120	0.86[ASN][1000 genomes]
rs11731978	0.86[ASN][1000 genomes]
rs11732868	0.86[ASN][1000 genomes]
rs11734257	0.86[ASN][1000 genomes]
rs3923434	0.86[ASN][1000 genomes]
rs55789502	0.86[ASN][1000 genomes]
rs55947321	0.86[ASN][1000 genomes]
rs56070439	0.86[ASN][1000 genomes]
rs56083423	0.86[ASN][1000 genomes]
rs56285151	0.86[ASN][1000 genomes]
rs62305677	0.86[ASN][1000 genomes]
rs62305678	0.86[ASN][1000 genomes]
rs62305681	0.86[ASN][1000 genomes]
rs62305682	0.86[ASN][1000 genomes]
rs62305683	0.86[ASN][1000 genomes]
rs62305684	0.86[ASN][1000 genomes]
rs62305685	0.86[ASN][1000 genomes]
rs62305686	0.86[ASN][1000 genomes]
rs62305687	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305688	0.86[ASN][1000 genomes]
rs62305693	0.86[ASN][1000 genomes]
rs62305694	0.86[ASN][1000 genomes]
rs62305717	0.86[ASN][1000 genomes]
rs62305718	0.86[ASN][1000 genomes]
rs62305719	0.86[ASN][1000 genomes]
rs62305720	0.86[ASN][1000 genomes]
rs62305721	0.86[ASN][1000 genomes]
rs62305722	0.86[ASN][1000 genomes]
rs62308869	0.86[ASN][1000 genomes]
rs62308871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531973	1.00[ASN][1000 genomes]
rs6840032	0.86[ASN][1000 genomes]
rs72670112	0.86[ASN][1000 genomes]
rs72670120	0.86[ASN][1000 genomes]
rs72670130	0.86[ASN][1000 genomes]
rs72670132	0.86[ASN][1000 genomes]
rs72670133	0.86[ASN][1000 genomes]
rs7436142	0.86[ASN][1000 genomes]
rs7659993	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7667669	0.86[ASN][1000 genomes]
rs7668684	0.86[ASN][1000 genomes]
rs7674452	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1014846	chr4:88151614-88188335	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537170	chr4:88151614-88188335	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:88163200-88165200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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