Variant report

Variant	rs4594727
Chromosome Location	chr4:7592068-7592069
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10022225	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs1015524	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10937837	0.89[CEU][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs10937838	0.87[EUR][1000 genomes]
rs10937840	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11721619	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11728631	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11731047	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11735301	0.82[CHD][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs11942830	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11943985	0.81[CEU][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs13122192	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs13149527	0.88[EUR][1000 genomes]
rs17465228	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34697516	0.82[EUR][1000 genomes]
rs35171394	0.81[EUR][1000 genomes]
rs4689781	0.80[GIH][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs4689785	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4689786	0.85[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689787	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4689789	0.85[CEU][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4689791	0.89[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6853188	0.94[CEU][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv461212	chr4:7572718-7620195	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593617	chr4:7572718-7620195	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7590200-7593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:7590400-7592200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7590600-7592800	Enhancers	Brain Germinal Matrix	brain
4	chr4:7591000-7592400	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7591000-7593800	Enhancers	Fetal Brain Male	brain
6	chr4:7591600-7592200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:7591600-7592400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7591600-7593400	Enhancers	Brain Anterior Caudate	brain
9	chr4:7591600-7594200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr4:7591600-7594800	Enhancers	Fetal Brain Female	brain
11	chr4:7591800-7592400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:7591800-7592600	Enhancers	NH-A	brain
13	chr4:7592000-7592400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:7592000-7592800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:7592000-7595800	Enhancers	Brain Cingulate Gyrus	brain

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