Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44274609..44276484-chr18:44283280..44285724,2	K562	blood:

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

rs_ID	r²[population]
rs11082551	0.83[CHD][hapmap];0.92[JPT][hapmap]
rs11872859	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11873719	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12605659	0.84[CHD][hapmap];0.92[JPT][hapmap]
rs12953964	0.83[EUR][1000 genomes]
rs12953965	0.83[EUR][1000 genomes]
rs16939940	0.81[EUR][1000 genomes]
rs16960373	0.81[EUR][1000 genomes]
rs2155987	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34198703	0.81[EUR][1000 genomes]
rs4402660	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4890686	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap]
rs71364554	0.81[EUR][1000 genomes]
rs71364555	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71364560	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71364561	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71364562	0.87[EUR][1000 genomes]
rs71364563	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7229344	0.84[EUR][1000 genomes]
rs7232509	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8089484	0.91[CHD][hapmap]
rs948569	0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs948570	0.91[CHD][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11872518	ST8SIA5	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44258200-44280000	Weak transcription	HSMMtube	muscle
3	chr18:44260800-44286600	Weak transcription	Brain Germinal Matrix	brain
4	chr18:44269200-44276000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:44272400-44275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr18:44273200-44288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44274600-44275800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr18:44274600-44276000	Weak transcription	Psoas Muscle	Psoas
9	chr18:44275000-44276200	Weak transcription	Left Ventricle	heart
10	chr18:44275600-44276000	Enhancers	Adipose Nuclei	Adipose
11	chr18:44275600-44277000	Enhancers	Skeletal Muscle Female	skeletal muscle

Quick Search: