Variant report

Variant	rs4693731
Chromosome Location	chr4:86619935-86619936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86618422..86620662-chr4:86620874..86623828,2	K562	blood:
2	chr4:86614998..86617949-chr4:86618338..86620197,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1014642	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12505724	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12506038	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12509904	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12510148	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13102863	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13106553	0.85[AFR][1000 genomes]
rs13108523	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13110928	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13127367	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13134382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136153	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13137575	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13139248	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13147689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004613	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34056429	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34820504	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35250811	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35341700	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35472747	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35577842	0.85[ASN][1000 genomes]
rs3889735	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4693734	0.80[ASN][1000 genomes]
rs4693735	0.83[AFR][1000 genomes]
rs58146546	0.85[ASN][1000 genomes]
rs6813860	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs71599423	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72974953	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676486	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs900204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86604200-86624000	Weak transcription	HSMM	muscle
2	chr4:86615000-86624200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:86615000-86624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:86617600-86624000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:86617800-86620400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:86618200-86621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86618200-86622800	Weak transcription	NHDF-Ad	bronchial
8	chr4:86618600-86625200	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:86618800-86620400	Genic enhancers	Primary B cells from cord blood	blood
10	chr4:86619200-86624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:86619400-86620200	Enhancers	Pancreas	Pancrea
12	chr4:86619600-86620000	Enhancers	Monocytes-CD14+_RO01746	blood

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