Variant report

Variant	rs71599423
Chromosome Location	chr4:86639156-86639157
allele	A/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	FOS	chr4:86639129-86639337	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:86638354-86639335	SK-N-MC	brain:	n/a	n/a
3	FOS	chr4:86639124-86639341	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Variant related genes	Relation type
MIR4451	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1014642	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097071	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11945319	0.82[EUR][1000 genomes]
rs12498959	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12505724	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507198	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12507272	0.88[ASN][1000 genomes]
rs12508919	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12509904	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12510148	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12510813	0.88[ASN][1000 genomes]
rs13102863	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13106553	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13108523	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13110485	0.88[ASN][1000 genomes]
rs13110928	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13121597	0.88[ASN][1000 genomes]
rs13127367	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134382	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13135703	0.88[ASN][1000 genomes]
rs13136153	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13137575	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13139248	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13147689	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17010851	0.82[EUR][1000 genomes]
rs17010857	0.82[EUR][1000 genomes]
rs17010863	0.82[EUR][1000 genomes]
rs1966862	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2004613	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34056429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34322771	0.87[ASN][1000 genomes]
rs34820504	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35250811	0.89[ASN][1000 genomes]
rs35341700	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35472747	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35577842	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3889735	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4693127	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4693731	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4693734	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4693735	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4693736	0.82[EUR][1000 genomes]
rs58146546	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6813860	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72974953	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7676486	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs900204	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9998523	0.88[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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86632000-86647000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86633600-86644800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:86636200-86639800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:86636600-86639200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:86636600-86643600	Enhancers	NHDF-Ad	bronchial
6	chr4:86637800-86641400	Weak transcription	HSMM	muscle
7	chr4:86637800-86641600	Weak transcription	A549	lung
8	chr4:86638000-86639600	Enhancers	Fetal Lung	lung
9	chr4:86638000-86646600	Weak transcription	Small Intestine	intestine
10	chr4:86638200-86639200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:86638200-86646600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:86638400-86639400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:86638600-86639600	Enhancers	NHLF	lung
14	chr4:86638600-86641600	Weak transcription	HSMMtube	muscle
15	chr4:86638800-86639200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:86638800-86639400	Enhancers	NHEK	skin
17	chr4:86638800-86639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:86638800-86641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:86638800-86642000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:86638800-86643400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:86638800-86643600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:86639000-86639200	Enhancers	Fetal Heart	heart
23	chr4:86639000-86643000	Weak transcription	Primary B cells from cord blood	blood
24	chr4:86639000-86644800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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