Variant report

Variant	rs60991172
Chromosome Location	chr4:128537229-128537230
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	chr4:128532750..128535243-chr4:128535393..128537538,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2391185	0.80[ASN][1000 genomes]
rs2893227	0.93[ASN][1000 genomes]
rs35147318	0.86[ASN][1000 genomes]
rs35858752	0.83[ASN][1000 genomes]
rs58486324	0.88[ASN][1000 genomes]
rs60404814	0.91[ASN][1000 genomes]
rs60553863	0.91[ASN][1000 genomes]
rs60803593	0.86[ASN][1000 genomes]
rs72616920	0.90[ASN][1000 genomes]
rs72616921	0.90[ASN][1000 genomes]
rs72616922	0.90[ASN][1000 genomes]
rs72616923	0.88[ASN][1000 genomes]
rs72616924	0.83[ASN][1000 genomes]
rs72616925	0.86[ASN][1000 genomes]
rs72616926	0.86[ASN][1000 genomes]
rs72616927	0.86[ASN][1000 genomes]
rs72616928	0.83[ASN][1000 genomes]
rs72616929	0.83[ASN][1000 genomes]
rs72616930	0.83[ASN][1000 genomes]
rs72616931	0.83[ASN][1000 genomes]
rs72616932	0.83[ASN][1000 genomes]
rs72616933	0.83[ASN][1000 genomes]
rs72616934	0.83[ASN][1000 genomes]
rs72616935	0.83[ASN][1000 genomes]
rs72616936	0.81[ASN][1000 genomes]
rs72621886	0.80[ASN][1000 genomes]
rs72621891	0.91[ASN][1000 genomes]
rs72621892	0.91[ASN][1000 genomes]
rs72621893	0.92[ASN][1000 genomes]
rs72621894	0.93[ASN][1000 genomes]
rs72621895	0.93[ASN][1000 genomes]
rs72621896	0.93[ASN][1000 genomes]
rs72621897	0.93[ASN][1000 genomes]
rs72621898	0.93[ASN][1000 genomes]
rs72621899	0.93[ASN][1000 genomes]
rs72621900	0.93[ASN][1000 genomes]
rs72621901	0.93[ASN][1000 genomes]
rs72621902	0.93[ASN][1000 genomes]
rs72624503	0.93[ASN][1000 genomes]
rs72624504	0.93[ASN][1000 genomes]
rs72624505	0.93[ASN][1000 genomes]
rs7439365	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1800085	chr4:128502675-128557864	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128530800-128543000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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