Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172047980..172049973-chr1:172059181..172061869,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10752864	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10797689	0.81[EUR][1000 genomes]
rs10911004	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12075807	0.81[ASN][1000 genomes]
rs12091015	0.80[ASN][1000 genomes]
rs12760234	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1555381	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2104037	0.86[EUR][1000 genomes]
rs2761183	0.83[ASN][1000 genomes]
rs2819525	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2819526	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819527	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2819530	0.83[ASN][1000 genomes]
rs35665317	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075021	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6670207	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6671218	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6676154	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6693520	0.84[ASN][1000 genomes]
rs9425847	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172010600-172051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:172038200-172055400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:172038200-172058800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:172041000-172054000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:172041200-172060800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:172041400-172052000	Weak transcription	HMEC	breast
8	chr1:172041400-172061600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:172041600-172061800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:172041800-172052000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:172041800-172061200	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:172046600-172076800	Weak transcription	Fetal Brain Female	brain
13	chr1:172048000-172083800	Weak transcription	Aorta	Aorta
14	chr1:172049200-172049800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:172049200-172051800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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