Variant report

Variant	rs1776050
Chromosome Location	chr1:220094000-220094001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10863510	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10863511	0.82[EUR][1000 genomes]
rs1694592	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1694593	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1694594	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1694595	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1776029	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1776030	0.88[EUR][1000 genomes]
rs1776043	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1776046	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1776052	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2275707	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2378331	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6541114	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6541115	0.83[EUR][1000 genomes]
rs6663638	0.85[EUR][1000 genomes]
rs6663745	0.85[EUR][1000 genomes]
rs7525274	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs947517	0.83[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220085400-220100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:220086200-220097400	Genic enhancers	Liver	Liver
3	chr1:220086600-220097400	Weak transcription	Fetal Brain Female	brain
4	chr1:220087200-220097800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:220087200-220099600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:220087400-220099600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:220088800-220095800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:220089000-220101000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:220089200-220100000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:220089400-220097600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:220090800-220094600	Strong transcription	HepG2	liver
12	chr1:220092200-220094200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:220092200-220095200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:220092200-220096200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:220092200-220096400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:220093200-220094800	Genic enhancers	K562	blood
17	chr1:220093600-220094400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:220094000-220094400	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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