Variant report

Variant	rs724072
Chromosome Location	chr4:186811571-186811572
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10002028	0.82[CHD][hapmap]
rs10002339	0.89[JPT][hapmap]
rs10002348	0.87[AFR][1000 genomes]
rs10012858	0.82[ASN][1000 genomes]
rs10013071	0.89[JPT][hapmap]
rs10022762	0.88[JPT][hapmap];0.87[YRI][hapmap]
rs11132362	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11729474	0.80[ASN][1000 genomes]
rs11733555	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1454745	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2034787	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs2278938	0.81[CHB][hapmap]
rs2278939	0.89[JPT][hapmap]
rs2603724	0.82[CHD][hapmap]
rs28459616	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28674702	0.81[ASN][1000 genomes]
rs4241812	0.81[ASN][1000 genomes]
rs4862585	0.85[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4862587	0.85[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4862589	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4862590	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4862591	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4862592	0.81[ASN][1000 genomes]
rs4862595	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4862602	0.89[JPT][hapmap];0.87[YRI][hapmap]
rs6552935	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6552938	0.83[JPT][hapmap];0.81[YRI][hapmap]
rs6833156	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6838311	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6848267	0.81[ASN][1000 genomes]
rs7656292	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7668890	0.83[ASN][1000 genomes]
rs7672034	0.84[JPT][hapmap]
rs7672190	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7693781	0.93[ASW][hapmap];0.85[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs9994907	0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186802200-186811600	Weak transcription	Pancreas	Pancrea
2	chr4:186804000-186818000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:186805000-186814400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:186806400-186815000	Weak transcription	Fetal Brain Female	brain
5	chr4:186810000-186811600	Weak transcription	Left Ventricle	heart
6	chr4:186810200-186811600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:186810200-186811600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:186811000-186812000	Enhancers	Placenta	Placenta
9	chr4:186811400-186813000	Enhancers	Fetal Heart	heart

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