Variant report

Variant	rs7674658
Chromosome Location	chr4:88248475-88248476
allele	C/G
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	GATA2	chr4:88248383-88248631	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr4:88248300-88248753	MCF-7	breast:	n/a	n/a
3	GATA3	chr4:88248402-88248649	T-47D	breast:	n/a	n/a
4	POLR2A	chr4:88247877-88248575	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:88241962..88245128-chr4:88247108..88249633,3	MCF-7	breast:
2	chr4:88242503..88244047-chr4:88248462..88250419,2	K562	blood:
3	chr4:88242496..88244669-chr4:88248333..88250976,2	MCF-7	breast:

Variant related genes	Relation type
HSD17B13	TF binding region
ENSG00000170509	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11097131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097147	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721653	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs11726120	0.83[AMR][1000 genomes]
rs11726577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734257	1.00[CHB][hapmap]
rs11734330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737402	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11930147	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930151	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939415	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946007	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505484	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923434	1.00[CHB][hapmap]
rs55764266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55789502	0.82[AMR][1000 genomes]
rs55895035	0.84[EUR][1000 genomes]
rs55932175	0.84[EUR][1000 genomes]
rs56083423	0.85[AMR][1000 genomes]
rs56141705	0.84[EUR][1000 genomes]
rs56258452	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284919	0.84[EUR][1000 genomes]
rs56385009	0.82[EUR][1000 genomes]
rs56390566	0.85[EUR][1000 genomes]
rs56788263	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58360495	0.84[EUR][1000 genomes]
rs60597105	0.85[EUR][1000 genomes]
rs62305681	0.83[AMR][1000 genomes]
rs62305686	0.82[AMR][1000 genomes]
rs62305688	0.85[AMR][1000 genomes]
rs62305693	0.85[AMR][1000 genomes]
rs62305719	0.82[AMR][1000 genomes]
rs62305721	0.82[AMR][1000 genomes]
rs62305726	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305728	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305729	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62305730	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305731	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305732	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305753	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319084	0.85[EUR][1000 genomes]
rs72652029	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670130	0.85[AMR][1000 genomes]
rs72670132	0.82[AMR][1000 genomes]
rs72670133	0.85[AMR][1000 genomes]
rs7436142	0.82[AMR][1000 genomes]
rs7664717	0.81[EUR][1000 genomes]
rs7665549	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7667669	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs7668684	1.00[CHB][hapmap]
rs7671557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690170	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv879527	chr4:88194170-88250203	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88238600-88253400	Weak transcription	HepG2	liver
2	chr4:88239400-88255400	Weak transcription	A549	lung
3	chr4:88247800-88249200	Enhancers	Fetal Intestine Large	intestine
4	chr4:88248000-88248600	Enhancers	Fetal Intestine Small	intestine

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