Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68431059..68433417-chr5:68453828..68456749,2	K562	blood:

Variant related genes	Relation type
ENSG00000265968	Chromatin interaction
ENSG00000220986	Chromatin interaction

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11748498	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949064	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951414	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952883	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956532	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3103617	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34981578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11952426	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68406200-68438400	Weak transcription	Aorta	Aorta
2	chr5:68412400-68434600	Weak transcription	Psoas Muscle	Psoas
3	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:68420600-68434800	Weak transcription	Fetal Brain Male	brain
5	chr5:68421400-68433400	Weak transcription	Left Ventricle	heart
6	chr5:68421600-68447000	Weak transcription	Ovary	ovary
7	chr5:68424000-68434000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:68424400-68433200	Weak transcription	Right Ventricle	heart
9	chr5:68425000-68433200	Weak transcription	Thymus	Thymus
10	chr5:68425400-68434400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:68425600-68433200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:68426400-68433400	Weak transcription	NH-A	brain
13	chr5:68426400-68434600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:68426400-68437800	Weak transcription	Hela-S3	cervix
15	chr5:68427400-68433800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:68429800-68433200	Weak transcription	Brain Anterior Caudate	brain
17	chr5:68429800-68433400	Weak transcription	Fetal Brain Female	brain
18	chr5:68430400-68434400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:68430600-68433600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:68431600-68433400	Enhancers	Placenta	Placenta
21	chr5:68432000-68433400	Weak transcription	HSMMtube	muscle

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