Variant report

Variant	rs1509562
Chromosome Location	chr2:48498094-48498095
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	chr2:48496037..48498281-chr2:48536801..48539296,2	K562	blood:
2	chr2:48496645..48499568-chr2:48504807..48506955,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17037255	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17397205	1.00[ASN][1000 genomes]
rs28439229	0.95[YRI][hapmap]
rs57729372	0.81[ASN][1000 genomes]
rs62137000	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62138796	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62138798	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62138804	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62138805	0.93[ASN][1000 genomes]
rs62138815	0.90[ASN][1000 genomes]
rs62138816	0.90[ASN][1000 genomes]
rs62138817	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6545025	1.00[ASN][1000 genomes]
rs6545026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6545031	0.95[YRI][hapmap]
rs6545033	0.96[YRI][hapmap]
rs6738828	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72820413	0.81[ASN][1000 genomes]
rs72820414	0.81[ASN][1000 genomes]
rs72887650	0.84[AFR][1000 genomes]
rs7563625	0.95[YRI][hapmap]
rs7583112	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs959141	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48495600-48498800	Enhancers	Fetal Intestine Small	intestine
2	chr2:48495600-48499600	Enhancers	HepG2	liver
3	chr2:48495800-48499400	Enhancers	Fetal Intestine Large	intestine
4	chr2:48496600-48500600	Weak transcription	K562	blood
5	chr2:48497200-48498800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr2:48497600-48502400	Weak transcription	Psoas Muscle	Psoas
7	chr2:48497800-48503600	Weak transcription	Liver	Liver
8	chr2:48498000-48503800	Weak transcription	Duodenum Mucosa	Duodenum

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