Variant report

Variant	rs1971991
Chromosome Location	chr4:56521314-56521315
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56520187..56522696-chr4:56535355..56536879,2	K562	blood:
2	chr4:56501908..56503959-chr4:56520105..56522203,2	K562	blood:
3	chr4:56520164..56522203-chr4:56529132..56532078,2	K562	blood:

Variant related genes	Relation type
ENSG00000109255	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10002268	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003113	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10003211	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10011137	0.90[ASN][1000 genomes]
rs10033028	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10517356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1077103	0.98[ASN][1000 genomes]
rs1077104	0.98[ASN][1000 genomes]
rs11133404	0.88[ASN][1000 genomes]
rs11735910	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11931026	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935806	0.89[ASN][1000 genomes]
rs11945558	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498734	0.88[ASN][1000 genomes]
rs12499623	0.88[ASN][1000 genomes]
rs12510588	0.98[ASN][1000 genomes]
rs12512220	0.98[ASN][1000 genomes]
rs13118189	0.85[ASN][1000 genomes]
rs1488939	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1809643	0.98[ASN][1000 genomes]
rs1844219	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844220	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906677	0.95[ASN][1000 genomes]
rs28377791	0.85[ASN][1000 genomes]
rs28448373	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28626806	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28644417	1.00[ASN][1000 genomes]
rs28694060	0.88[ASN][1000 genomes]
rs4865020	0.98[ASN][1000 genomes]
rs4865021	0.90[ASN][1000 genomes]
rs61072181	0.86[ASN][1000 genomes]
rs6827359	0.88[ASN][1000 genomes]
rs6839462	0.97[ASN][1000 genomes]
rs7658532	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7680941	1.00[ASN][1000 genomes]
rs7690375	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7690566	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7697972	0.98[ASN][1000 genomes]
rs9312664	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1006944	chr4:56512574-56580169	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56515400-56541400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:56519400-56521400	Enhancers	K562	blood

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